Curriculum Vitae. Prof. Giacomo Pietro Comi

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1 Curriculum Vitae Prof. Giacomo Pietro Comi Settore scientifico-disciplinare: MED/26 Neurologia Settore concorsuale: 06/D6- Neurologia Ottobre 2014

2 CURRICULUM VITAE Nome e cognome: Giacomo Pietro Comi Nascita: 7/11/58 a Bergamo Cittadinanza: Italiana Residenza: Viale Ercole Marelli Sesto S.Giovanni, Milano Tel.: 02/ Stato civile: coniugato Indirizzo del luogo di lavoro: Dipartimento di Fisiopatologia Medica e Chirugica e dei Trapianti Sezione di Neuroscienze Universita' degli Studi di Milano Padiglione Monteggia Divisione di Neurologia IRCCS Fondazione Ca Granda Ospedale Maggiore Policlinico Via Francesco Sforza 35, Milano Tel: 02/ FAX: 02/ [email protected] FORMAZIONE Diplomato nell'anno 1979 presso il Liceo Ginnasio Classico Statale G. Zucchi di Monza, con punteggio finale di 60 e lode. Allievo interno presso l'istituto di Clinica Medica dell'universita' degli Studi di Milano, diretto dal Prof. Alberto Zanchetti nell'anno accademico Allievo interno presso l'istituto di Clinica Neurologica dell'universita' degli Studi di Milano, diretto dal Prof. Guglielmo Scarlato, nell'annno accademico Laureato in Medicina e Chirurgia il 1/4/85 a pieni voti (110 e Lode), presso l'universita' degli Studi di Milano, con una tesi sperimentale dal titolo "Taratura del test di Poppelreuter", relatore Prof. Edoardo Bisiach. Ha conseguito il diploma di Specialita' in Neurologia, nel novembre '89, con una Tesi dal titolo "6- [ 18 F] Fluoro-L-Dopa in scimmie rhesus: profilo metabolico ed effetti del trattamento con OR-462 e carbidopa", relatore Prof. Guglielmo Scarlato.

3 ATTIVITA' SCIENTIFICA Dal 1985 il Dott. Comi ha svolto attivita' di ricerca nell'ambito delle encefalomiopatie mitocondriali presso l'istituto di Clinica Neurologica, Universita' degli Studi di Milano. Nell'anno accademico 1986-'87 ha ottenuto una borsa di studio presso l'universita' degli Studi di Milano, avendo come principale terreno di ricerca lo studio del metabolismo cerebrale in ratti senescenti e microencefalici. Dal settembre 1987 al settembre 1989 e' stato Visiting Fellow presso la Neuroimaging Section del National Institute of Neurological and Communicative Disorders and Stroke (NINCDS), National Institutes of Health (NIH), Bethesda, Maryland, U.S.A., diretta dal Dott. Giovanni Di Chiro, dove ha collaborato, nell'ambito del programma di Positron Emission Tomography (PET), a protocolli sperimentali riguardanti lo studio in vivo delle vie catecolaminergiche nel sistema nervoso centrale umano e dei primati. Le due principali linee di ricerca in cui e' stato coinvolto riguardano l'imaging del sistema catecolaminergico tramite 6-[ 18 F] Fluoro-L-Dopa in primati MPTP-lesi ed in pazienti affetti da Morbo di Parkinson, con particolare interesse alla ricerca di nuove forme di terapia tramite trapianti autologhi ed eterologhi. Una seconda linea di ricerca era relativa allo sviluppo ed applicazione di nuovi traccianti radioattivi positroni emittenti, per la determinazione in vivo dei recettori dopaminergici tramite PET. Dall'ottobre '89 ha lavorato presso l'istituto di Clinica Neurologica dell'universita' di Milano. I principali settori di interesse riguardano gli aspetti biochimici e genetici delle miopatie metaboliche, delle encefalomiopatie mitocondriali e delle distrofie muscolari. Nel periodo 1 maggio aprile 1991 ha ricevuto una Borsa di Ricerca dell'ospedale Maggiore Policlinico, R.C. 1987, Tema n. 86 dal titolo "Analisi del DNA mitocondriale, correlata alle alterazioni biochimiche nelle miopatie dismetaboliche". Nel periodo 1 gennaio dicembre 1992 ha ricevuto una Borsa di Ricerca dell'ospedale Maggiore Policlinico, R..C: 1989, Tema n. 83 dal titolo "Analisi del DNA mitocondriale, correlata alle alterazioni biochimiche nelle miopatie dismetaboliche". Tale Borsa di Ricerca è stata rinnovata nel periodo 1/1/93 al 31/12/93. Nel periodo 1 aprile '94-31 marzo 1995 e' stato Borsista dell'ospedale Maggiore presso l'istituto di Clinica Neurologica, R.C. 1991, Tema n. 121 dal titolo: Studio delle attività enzimatiche della catena respiratoria nelle malattie degenerative neurologiche". Dal 1 luglio 1995 e' ricercatore universitario presso l'istituto di Clinica Neurologica dell'universita' degli Studi di Milano. Dal 1 luglio 1998 ricercatore universitario confermato presso l'istituto di Clinica Neurologica dell'universita' degli Studi di Milano. Riconosciuto idoneo al ruolo di Professore Associato per il settore scientifico-disciplinare F11B, tramite concorso pubblico di valutazione comparativa presso l'università degli Studi di Milano, bandito il 14/04/2000 e completato con certificazione della regolarità degli atti il 30/01/2001. Dal 1/10/2002 ricopre il ruolo di Professore Associato presso il Dipartimento di Scienze Neurologiche dell Università degli Studi di Milano. Riconosciuto idoneo al ruolo di Professore Ordinario per il settore scientifico-disciplinare 06/D6 Febbraio 2014 I prinicipali temi di ricerca a cui il Prof. Comi ha dedicato interesse nel corso della sua carriera scientifica sono stati costituti da: (i) neuroimaging sperimentale e clinico, (ii) genetica delle patologie

4 muscolari, con particolare attenzione alle malattie neurodegenerative e neuromuscolari, in particolare mitocondriopatie, distrofie muscolari, miopatie metaboliche e malattie del motoneurone. (iii) staminalità neuronale come modello di malattia ed approccio terapeutico sperimentale (iv) biogenesi mitocondriale, senescenza e patologie degenerative del sistema nervoso centrale; (v) terapia genica delle malattie neuromuscolari ad eziologia genetica.. Principali tematiche di ricerca: 1) Neuroimaging clinico: - programma di Positron Emission Tomography (PET), a protocolli sperimentali riguardanti lo studio in vivo delle vie catecolaminergiche nel sistema nervoso centrale umano e dei primati. Le due principali linee di ricerca in cui e' stato coinvolto riguardano l'imaging del sistema catecolaminergico tramite 6- [18F] Fluoro-L-Dopa in primati MPTP-lesi ed in pazienti affetti da Morbo di Parkinson, con particolare interesse alla ricerca di nuove forme di terapia tramite trapianti autologhi ed eterologhi. Una seconda linea di ricerca era relativa allo sviluppo ed applicazione di nuovi traccianti radioattivi positroni emittenti, per la determinazione in vivo dei recettori dopaminergici tramite PET. -Studio di RMN muscolare nelle Miopatie e Distrofie Muscolari 2) Basi molecolari delle encefalomiopatie mitocondriali e delle malattie metoboliche con interessamento del sistema nervoso centrale e/o periferico e dell'apparato neuromuscolare - Caratterizzazione clinica e patologica di casi familiari di malattie mitocondriali - Analisi genica high throughput per l'identifcazione di nuovi geni responsabili di malattie mitocondriali - Studi funzionali in modelli in vitro e in vivo di mutazioni in proteine mitocondriali - Studio molecolare di del meccanismo di trasporto dello spazio intermembrana mitocondriale - Studio delle miopatie metaboliche attraverso un'indagine clinico-biochimica e poi molecolare, con caratterizzazione dei difetti della via glicogeno e glicolitica (deficit dell'enzima deramificante, di maltasi acida, di miofosforilasi di fosfogliceratomutasi, di -enolasi) e lipolitica (deficit della beta-ossidazione mitocondriale, di carnitina e dell'enzima carnitina palmitoiltranferasi 3) Analisi bio-molecolari dell'eziopatogenesi delle distrofie muscolari e terapie sperimentali - Studio dell'eziologia molecolare, della patogenesi e delle correlazioni genotipo-fenotipo delle Distrofie Muscolari dei Cingoli (Limb Girdle Muscular Dystrophies, LGMD) - Caratterizzazione clinico genetica delle distrofinopatie e delle Distrofie Muscolari Congenite - Protocolli terapeutici farmacologici sperimentali nelle distrofinopatie (PTC124, oligonucleotidi antisenso, inibitori delle istone-deacetilasi) 4) Analisi clinico-molecolare delle Canalopatie muscolari 5) Meccanismi molecolari delle malattie neurodegenerative - Studio eziopatogenetico molecolare e correlazioni genotipo fenotipo nella Malattia di Alzheimer, Demenza Fronto-temporale e Malattia di Parkinson 6) Meccanismi molecolari delle malattie del motoneurone

5 - Analisi molecolare e correlazioni genotipo/fenotipo in pazienti affetti da forme sporadiche e familiari di malattie del motoneurone 7) Studio di strategie terapeutiche cellulo-mediate nelle malattie del motoneurone - Strategie terapeutiche basate sul trapianto di cellule staminali per la Sclerosi Laterale Amiotrofica - Trapianto di cellule staminali neuronali come strategia terapeutica per l'atrofia Muscolare Spinale (SMA) - Sviluppo di approcci cellulo-mediati come terapia per l'atrofia Muscolare Spinale con Distress Respiratorio di tipo 1 (SMARD1) - Definizione di protocolli pre-clinici di trapianto cellulare in vivo - Identificazione dei meccanismi molecolari alla base dell'effetto terapeutico di cellule staminali neuronali in modelli di malattie del Motoneurone 8) Meccanismi molecolari del mantenimento della staminalità e del differenziamento in senso neuronale e moto neuronale - Generazione e analisi delle caratteristiche biologiche di diverse popolazioni di cellule staminali tra cui cellule staminali somatiche riprogrammate "induced pluripotent stem cells" (ips) - Isolamento di popolazioni di cellule staminali neuronali primitive basato sull'uso di markers di superficie e di proprietà fisiche e biochimiche - Studio del differenziamento di cellule staminali in senso motoneuronale in termini di definizione di protocolli in vitro e di studio molecolare degli eventi differenziativi - Identificazione di motivi genici motoneurono-specifici mediante analisi comparativa genomica e screening in vitro 9) Studio di strategie terapeutiche di terapia genica nelle malattie neurodegenerative e neuromuscolari - Sviluppo di un approccio combinato di molecole farmacologiche e di oligonucleotidi antisenso come potenziale strategia terapeutica per l'atrofia Muscolare Spinale - Sviluppo di approcci molecolari come terapia per l'atrofia Muscolare Spinale con Distress Respiratorio di tipo I Collaborazioni nazionali ed internazionali Il Prof. Giacomo P. Comi collabora ai seguenti progetti: 1. Prof. Y.C. Chen. Department of Medical Genetics, Duke University North Carolina USA. "Molecular basis of Glycogenosis type III" 2. Dr. M Zeviani. Istituto Neurologico Nazionali C. Besta. Autosomally inherited mitochondrial disorders 3. Studio di nuovi approcci di terapia genica per l Atrofia Muscolare Spinale con Distress Respiratorio (SMARD1), Brian K Kaspar, Ph.D, Professore Associato, The Research Institute at Nationwide Children s Hospital/ The Ohio State University, Center for Gene Therapy, Columbus, Ohio, USA 4. Studio dei meccanismi molecolari non-cell autonomous nella SLA, Motor Neuron Center, Columbia Università 5. Basi Molecolari della Sclerosi Laterale Amiotrofica SLAGEN consortium, Prof. Vincenzo Silani, Università degli Studi di Milano, IRCCS Istituto Auxologico Italiano, Milano 6. Studi elettrofisiologici di motoneuroni derivati da cellule staminali in vitro e in vivo, Prof. Luca Imeri, Dipartimento di Fisiologia Umana, Università degli Studi di Milano, Milano 7. Basi molecolari genomica di popolazione, Dr. M. Siorni e Dr Uberto Pozzoli, IRCCS E. Medea Bosisio, Parini, Italy

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7 Responsabilità in progetti scientifici Responsabilità scientifica per progetti di ricerca internazionali e nazionali, ammessi al finanziamento sulla base di bandi competitivi che prevedano la revisione tra pari Progetto Durata Ruolo Ricoperto PRIN 2001: BIOPATOLOGIA DELLA FIBRA MUSCOLARE SCHELETRICA 24 Responsabile Unità PRIN 2003: IperCkemia idiopatica familiare: studio genetico, ultrastrutturale e di espressione genica. Relazione con la suscettibilità all'ipertermia maligna e basi fisiopatologiche PRIN 2006: Un approccio integrato allo studio della eziopatogenesi delle mitocondriopatie FIRB Progetti Negoziali 2001: Animali geneticamente modificati per lo studio di patologie neurodegenerative IRCCS Ospedale Maggiore Policlinico 1997: Progetto di ricerca corrente "Caratterizzazione genetico-clinica di encefalomiopatie mitocondriali negative per mutazioni comuni del genoma mitocondriale".. IRCCS Ospedale Maggiore Policlinico 1998: "Costruzione di un vettore retrovirale ad espressione muscolo specifica da utilizzare nell'ambito della terapia genica dei disordini muscolari ereditari" Telethon Grants 1090 ( ), dal titolo: Molecular basis of glycogenosis type III. IRCCS E. Medea 2000: Progetto di ricerca "Risposta alla esposizione a dosi variabili di aminoglicoside di colture muscolari di pazienti DMD non deleti". 24 Responsabile Unità 24 Coordinatore Progetto 36 Responsabile Unità 12 Responsabile Progetto 24 Responsabile Progetto 24 Responsabile Progetto 24 Responsabile Progetto Ricerca Finalizzata 2000, Ministero della Salute "Cognitive and psychic 24 Responsabile

8 functions in Steinert Myotonic Dystrophy: correlations with genotype and neuroimaging" Ricerca Finalizzata 2000 Markers Biologici Periferici nei meccanismi patogenetici della malattia di Alzheimer : Progetto di Ricerca Finalizzata Ministero della Salute Unit "'Isolation, expansion and characterization of stem cell for transplantation and tissue repair; (STEM 2001)" 2002 Progetto Strategico M.I.U.R. Legge 449/97 dal titolo Basi Molecolari e cellulari delle Malattie (Molecular basis of the diseases) " Sottoprogetto "Eziopatogenesi molecolare delle malattie mitocondriali in un'ampia coorte di pazienti formata da casi con mutazioni note del DNA mitocondriale e casi senza mutazioni comuni" (Molecular etiopathogenesis of mitochondrial disorders in a large series of patients with recurrent and rare mutations of mitochondrial DNA) Ricerca Finalizzata 2002, Ministero della Salute, "Mitochondrial disorders: diagnostic screening of disease gene end identification of modulator genes". IRCCS Ospedale Maggiore di Milano: Progetto a concorso 2002 : Modulazione della neuroneogenesi originata da cellule staminali emopoietiche e valutazione del relativo significato terapeutico nel modello murino della Sclerosi Laterale Amiotrofica" Progetto di Ricerca Finalizzata 2004, Ministero della Salute", entitled Limb Girdle Muscular Dystrophies: clinico-genetic correlations, pathogenesis and prognostic factors" Progetto di Ricerca Finalizzata 2004, Ministero della Salute, entitled "Miosite a corpi inclusi: network tra aging muscolare, stress cellulare, risposta immunitaria innata e autoimmunità". Progetto di "Ricerca Finalizzata 2004 Ministero della Salute", entitled "Studio di protocolli di terapia cellulo-mediata nelle patologie neurodegenerative e nelle distrofie muscolari" "Progetto a Concorso Anno 2004, Ospedale Maggiore di Milano, entitled: Trapianto di cellule staminali di derivazione emopoietica come strategia di rigenerazione neuronale in topi nmd, modello animale di Amiotrofia Spinale". Progetto di Ricerca Finalizzata" 2004, Ministero della Salute, entitled "hereditary optic neuropathies with mitochondrial pathogenesis as a model of selective neurodegeneration" "Ricerca Finalizzata 2004 Ministero della Salute, entitled "Study of protocols of cell-mediated therapy in the neurodegenerative disorders and muscular dystrophies" Progetto a Concorso Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, dal titolo: Caratterizzazione delle vie patogeneticamente rilevanti nelle encefalo miopatie" Progetto "Istituto Superiore di Sanità 2006, Prof. G.P. Comi "Validazione preclinica dell'utilizzo di cellule staminali mesenchimali quale possibile terapia cellulo-mediata della SLA" Telethon grant 2006: GGP06043, "Development of cellular and molecular therapeutic approaches for Spinal Muscular Atrophy with Respiratory Distress (SMARD1). Unità 24 Responsabile di Unità 36 Responsabile Unità 24 Responsabile Progetto 24 Responsabile Unità 24 Responsabile Progetto 24 Coordinatore nazionale 24 Responsabile Unità 24 Coordinatore nazionale 24 Responsabile Progetto 24 Responsabile Unità 36 Coordinatore nazionale 24 Responsabile Progetto 24 Responsabile Unità 24 Responsabile Progetto Association Française contre les Myopathies, CL/NM /11750, 24 Responsabile Pag. 77 di 81

9 Development of neural stem cell transplantation as a potential therapy of Spinal Muscular Atrophy; Ministero della salute Ex-Articolo 56, 2006 Motoneuron disease: genomics and proteomics to investigate diagnostic biological markers in cells and human fluids with translation to murine models" Ministero della Salute, Progetto ex art 56 legge 289/2002. "The technique of the opto-electronic pletysmography in the evaluation of the respiratory kinematic in the different stages of the Duchenne muscular dystrophy and its relation to different techniques of non invasive ventilation". Ricerca Finalizzata 2002 Sviluppo di modelli in vitro e in vivo di paraparesi spastica ereditaria Ministero della Salute, Ricerca Finalizzata 2007 "The motor neuron disease: molecular and cellular pathways in neuronal and muscular degeneration in Amyotrophic Lateral Sclerosis" Fondazione Cariplo : Development of a cell-mediated therapy for Amyotrophic Lateral Sclerosis using Multipotent Adult Progenitor Cells(MAPCs). Ministero della Salute, Ricerca Finalizzata, 2007, "Juvenile and perinatal stroke: population genetics analysis for the identification of pathogenic alleles and predisposing factors" Telethon-UILDM "Outcome measures in Duchenne Muscular Dystrophy". Telethon-UILDM "Clinical, morphological and molecular study of Italian patients with congenital myopathy" SMA Europe/FSMA grant , " Development of a stem cell approach for treating Spinal Muscular Atrophy" Progetto 24 Responsabile Unità 24 Responsabile Unità 24 Responsabile di Unità 24 Responsabile Unità 24 Responsabile Progetto 24 Responsabile Unità 24 Responsabile Unità 24 Responsabile Unità 24 Responsabile Progetto Progetto a Concorso Ospedale Maggiore Policlinico e Responsabile Progetto Progetto di Ricerca Finalizzata 2007 Ministero della Salute, "Mitochondrial Disorders: from medical genetics to molecular mechanisms, toward the developmenof therapeutic strategies" Ricerca Finalizzata 2006 Malattie del primo motoneurone integrazione di approccio genetico molecolare clinico strumentale 2011 Progetto UILDM-Telethon Clinical and laboratory network for LGMD diagnosis, in view of a national registry 2012 Progetto UILDM-Telethon "Sviluppo di un data base sulle distrofie muscolari congenite nel contesto di un network collaborativo nazionale per ricostruire elementi di storia naturale di queste malattie Telethon-UILDM "Constructing a database for a nation-wide Italian collaborative network of mitochondrial diseases Progetto " ipsals" ips derived neural stem cells for Amyotrophic Lateral Sclerosis" Agenzia di Ricerca per la Sclerosi Laterale Amiotrofica 24 Responsabile Progetto 24 Responsabile di Unità 24 Responsabile Progetto 24 Responsabile Unità 24 Responsabile Progetto 36 Responsabile Progetto Telethon : "Development of stem cell therapy for SMARD1" 24 Responsabile Progetto Pag. 80 di 81

10 Ricerca Finalizzata 2009 From BioEngineering new tools for identification of early markers of respiratory and cardiac impairment in Duchenne Muscular Dystrophy Ricerca Finalizzata 2007 Genome wide association and copy number variation analysis of sporadic amyotrophic lateral sclerosis (GW-SLA) 36 Responsabile di Unità 24 Responsabile di Unità Pag. 81 di 81

11 Pubblicazioni Nel corso di questi anni e' stato autore di più di 893 pubblicazioni di interesse neurologico, comprensive di : - >321 lavori originali pubblicari su riviste internazionali e recensite dal Current Contents, - >362 abstracts di comunicazioni a congressi neurologici internazionali, - >197 abstracts di comunicazioni a congressi neurologici nazionali, - 17 capitoli di libri. ESPERIENZA DIDATTICA Il Prof. Giacomo Pietro Comi ha svolto attività tutoriale relativa al Corso di Neurologia per gli studenti della Facoltà di Medicina e Chirurgia dell'universita' degli Studi di Milano, negli anni accademici , , In questi anni di attività didattica il Prof Comi è stato correlatore di tesi di Laurea in Medicina e Chirurgia, tesi di specialità in Neurologia, tesi di Laurea in Scienze Biologiche e per il Diploma universitario di tecnico di laboratorio biomedico. A partire dall anno accademico ha svolto attività didattica seminariale presso la Scuola di Specializzazione di Neurologia dell'università degli Studi di Milano. Ha inoltre tenuto, in qualità di docente, i corsi di Neurologia negli anni e , e di Anatomo-fisiologia del sistema nervoso negli anni , , presso la Scuola Regionale Terapisti della Riabilitazione, Istituto Scientifico E. Medea, Bosisio Parini, Como. Dall'anno accademico 1995/96 a oggi, fa parte dell'elenco ufficiale dei docenti della Scuola di Specializzazione in Neurologia della Facoltà di Medicina e Chirurgia dell'università degli Studi di Milano, nell'ambito della quale tiene lezioni di Neurologia Pediatrica per il IV anno di corso. Dall'anno 1997/98 ad 2000/2001, ha insegnato elementi di neurologia nell'ambito del Corso Integrato di Tecniche Infermieristiche applicate alla Medicina Clinica Specialistica, presso la Scuola Infermieri dell'ospedale Maggiore Policlinico di Milano. Dall'anno accademico a oggi, è responsabile del Corso di Neurologia al II anno del Corso di Diploma Universitario per Ortottisti e Assistenti di Oftalmologia, presso l'istituto di Clinica Oculistica dell'università degli Studi di Milano. Dall'Aprile 2000 è membro del Collegio dei Docenti del Dottorato di Ricerca in Medicina Molecolare. Dal 2002 a oggi, svolge attività didattica nel Corso di Laurea Triennale in Biotecnologie Mediche (Patologia Medica- Neurologia), Facoltà di Medicina e Chirurgia, Università degli Studi di Milano ( ) e nel Corso di Laurea Triennale in Tecniche di Laboratorio Biomedico (Fisiopatologia Medica- Neurologia), Facoltà di Medicina e Chirurgia, Università degli Studi di Milano ( ) Dal 2006 al 2010, è stato titolare del Corso di Laurea in Malattie del Sistema Nervoso per la Laurea Magistrale in Medicina e Chirurgia per il Polo Centrale della facoltà di Medicina e Chirurgia. Dal 2011 a oggi, docente nel Corso di Laurea in Malattie del Sistema Nervoso per la Laurea Magistrale in Medicina e Chirurgia per il Polo Centrale della facoltà di Medicina e Chirurgia Pag. 82 di 81

12 ATTIVITA' CLINICO-ASSISTENZIALE Abilitato all'esercizio della Professione di Medico Chirugo in data 29/5/1985 Iscritto all'albo Professionale dell'ordine dei Medici di Milano il 26/6/1985 Ha frequentato dal 1985 al 1987, e dal 1990 al 1997 come medico interno l'istituto di Clinica Neurologica di Milano, svolgendo attività assistenziali di sala. Ha inoltre svolto durante questi anni attività clinica ambulatoriale presso l'ambulatorio del "Centro Dino Ferrari per le patologie neuromuscolari e neurodegenerative". Nel ha inoltre svolto attività di consulente specialista neurologo presso l'ospedale Militare di Milano. Dal 1993 al 1995 ha prestato servizio in qualità di medico Specialista nella branca di neurologia presso le USSL di Sesto S. Giovanni e Cologno Monzese, e Corsico. Nell'anno 1994, ha svolto attività clinico-assistenziali in qualità di consulente in convenzione presso l'istituto Scientifico E. Medea. Dal 1 marzo 1997 svolge funzioni assistenziali presso la Divisione di Neurologia dell'ospedale Maggiore Policlinico di Milano (recentemente ridenominato Fondazione I.R.C.C.S Ca' Granda, Ospedale Maggiore Policlinico). Il Prof. Comi svolge attività di reparto dal 1997, dal 2007 è Capo Reparto Degenza, responsabile di una sezione del reparto di Neurologia, dotato di 9 letto di degenza ordinaria. In tale veste svolge turni di guardia interna ed esterna ed ambulatorio specialistico neurologico generale. E' inoltre responsabile dell'attività ambulatoriale e di day Hospital per la Sclerosi Laterale Amiotrofica e le neuropatie Inoltre il Prof. Comi continua a svolgere l'attività specialistica nell'ambulatorio del "Centro Dino Ferrari per lo studio e la terapia delle neuromuscolari e neurodegenerative" dedicato principalmente alle malattie muscolari. Inoltre dal 2001 il Prof. Comi dirige l'attività di diagnostica biochimica e biomolecolare del Laboratorio Radioisotopi di Biochimica e Genetica del Dipartimento di Scienze Neurologiche. In particolare sulla base della attività di ricerca applicata, ha introdotto e validato tests diagnostici per un ampio spettro di malattie neuromuscolari e neurodegenerative. Le indagini di biologia molecolare a fini diagnostici, eseguite presso il Laboratorio, sono le seguenti - Distrofia muscolare di Duchenne/Becker Gene della distrofina, delezioni e coding sequence. - Distrofia muscolare dei Cingoli (LGMD1A): gene della Miotilina - Distrofia Muscolare dei Cingoli tipo 1B: LGMD1B; LAMIN A/C; gene LMNA - Distrofia Muscolare dei Cingoli tipo 1C: gene della Caveolina 3 - Distrofia Muscolare dei Cingoli tipo 2A: gene della Calpaina 3 - Distrofia Muscolare dei Cingoli tipo 2B. LGMD2B- Miopatia di MIYOSHI, MM; disferlina, gene DYSF. - Distrofia Muscolare dei Cingoli (LGMD2C): gene del Sarcoglicano gamma (SGCG) - Distrofia Muscolare dei Cingoli (LGMD2D): gene del Sarcoglicano (SGCA) - Distrofia Muscolare dei Cingoli (LGMD2E): gene del Sarcoglicano beta (SGCB) - Distrofia Muscolare dei Cingoli (LGMD2F): gene del Sarcoglicano delta (SGCD) -- Distrofia Muscolare dei Cingoli tipo 2I: gene della Fukutin Related Protein - Forma Familiare di Sclerosi Laterale Amiotrofica (SLA): Gene Cu-Zn Superoxide Dismutasi (SOD1) - Forma Familiare di Sclerosi Laterale Amiotrofica; Angiogenina ANG. Pag. 83 di 81

13 - Forma Familiare di Sclerosi Laterale Amiotrofica, ALS8; VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B, gene VAPB. - Amiotrofia Spinale con Distress Respiratorio tipo 1 (SMARD1) Proteina 2 IMMUNOGLOBULIN MU BINDING; gene IGHMBP2. - Atrofia Muscolare Spinale distale tipo V. DSMAV: Glicil trna sintetasi: gene GARS. - Forma autosomico-recessiva di Miopatia a Corpi Inclusi, IBM2. gene UDP-N- ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE, GNE. - Deficit di Carnitina Palmitoil-Trasferasi(CPT): Gene CPT2 - Deficit primario di Carnitina. Gene OCTN2 - Deficit di Enzima Deramificante (GSDIII): Gene AGL - Deficit di Enzima Ramificante: Gene Branching - Deficit di Maltasi Acida. Gene alfa,2-glucosidasi (GAA) - Sindrome di Leigh con deficit di Citocromo c Ossidasi:Gene Surf-1 - Oftalmoplegia Estrinseca Progressiva con delezioni multiple del DNA mitocondriale, Autosomica Dominante 1:Gene Adenina nucleotide traslocasi (ANT1) - Oftalmoplegia Estrinseca Progressiva con delezioni multiple del DNA mitocondriale, Autosomica Dominante 2:Gene Twinkle - Oftalmoplegia Estrinseca Progressiva con delezioni multiple del DNA mitocondriale, Autosomica Dominante 3 e Autosomica Recessiva: Gene Polimerasi gamma (POLG1) -Oftalmoplegia Estrinseca Progressiva con delezioni multiple del DNA mitocondriale, Autosomica Dominante 4:Gene Subunità accessoria della Polimerasi gamma( POLG 2) - Sindrome da Deplezione del DNA mitocondriale: Desossiguanosina Chinasi(dGK) - Sindrome da Deplezione del DNA mitocondriale: Timidina Chinasi 2 (TK2) - Atrofia Ottica Autosomico Dominante: OPA1. Gene OPA1. 28PCR, - Forma familiare di Malattia di Creutzfeldt-Jakob. Gene della proteina prionica, gene PRPN. Miopatia a corpi inclusi con malattia di Paget e demenza frontotemporale; IBMPFD. VALOSIN- CONTAINING PROTEIN; VCP. - PARK1: Forma familiare autosomica dominante di Morbo di Parkinson: Sinucleina alfa - PARK2: Forma giovanile autosomica recessiva di Morbo di Parkinson: Parkina - PARK7: Forma giovanile autosomica recessiva di Morbo di Parkinson: DJ1 - PARK8 Mutazione comune. - Polineuropatia amiloidotica autosomica dominante Gene della transtiretina, TTR. - Malattia di Charcot-Marie-Tooth (CMT) tipo 2A; CMT2A. Mitofusina2; gene MFN2. - Malattia di Charcot-Marie-Tooth (CMT) tipo 2D; CMT2D. Glicil trna sintetasi gene GARS. Malattia di Charcot-Marie-Tooth (CMT) tipo 2B1; CMT2B1. LAMIN A/C; gene LMNA. - Malattia di Charcot-Marie-Tooth (CMT) tipo4a; CMT4A. GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1. - Malattia di Wilson WND. ATPasi, Cu(2+)-trasportatore, polipeptide beta; ATP7B.(25 PCR, 50 seq.) - Gene Adenilato Kinasi (AK2) - Analisi di sequenza dell'intero genoma mitocondriale - Canalopatie: deficit canale del Calcio: gene CACNA1S, deficit canale del Potassio: gene KCNJ2 - Deficit enzima Enolasi: gene ENO3 - Deficit enzima Mioadenilato Deaminasi (MAD): gene AMPD1 - Analisi del DNA ed ibridazione con sonda molecolare (Southern blot) - Distrofia Miotonica di Steinert (DM1): XL-PCR e Southern blotting - DNA mitocondriale southern blot +digestione enzimatica - Distrofia Miotonica di tipo II (DM2): XL-PCR e Southern blotting Pag. 84 di 81

14 - Amiotrofia Spinale, AR, Cr. 5: Survival Motor Neuron gene(smn1 e 2):Analisi di delezione esoni 7 e 8 I test biochimici Enzimi della via glicogeno- e glicolitica: Enzimi mitocondriali: Catena Respiratoria Mitocondriale Beta-ossidazione: Altre attività enzimatiche: Metaboliti plasmatici:lattato basale Test di MunsatCarnitina totale e libera Proteine muscolari (Western blotting):distrofina (NH2, Rod domain, COOH), Caveolina 3, Disferlina, Calpaina 3, Alfa-Sarcoglicano, Beta-Sarcoglicano, Gamma-Sarcoglicano, Delta-Sarcoglicano, Telethonina, Desmina, Alfa-distroglicano Pag. 85 di 81

15 Direzione di enti o istituti di ricerca di alta qualificazione internazionale Ente Dal Al "Centro Dino Ferrari per lo studio e la terapia delle malattieneuromuscolari e neurodegenerative", Vicedirettore Centro Dino Ferrari per lo studio e la terapia delle malattieneuromuscolari e neurodegenerative", Direttore 1/ / / /2002 Pag. 86 di 81

16 Partecipazione ad accademie aventi prestigio nel settore Membro dell'associazione Italiana di Neuropatologia 01/1999 Membro dell'associazione Italiana di Miologia 01/1999 Membro della Society for Neuroscience (SfN) 01/2004 Partecipazione a comitati editoriali di riviste, collane editoriali, enciclopedie e trattati di riconosciuto prestigio Riviste Reviewer per riviste internazionali quali: Brain - Neurology - Annals of Neurology-Muscle and Nerve-Neurobiology of Disease-Journal of The Neurological Sciences-European Journal of Human Genetics, Molecular Genetics, Stem Cell Research 1/1995 Membro dell Editorial Board della rivista Journal of Neuromuscular Disorder Pag. 87 di 81

17 Altri titoli Dal 1 marzo 1997 svolge funzioni assistenziali presso la Divisione di Neurologia dell'ospedale Maggiore Policlinico di Milano (recentemente ridenominato Fondazione I.R.C.C.S Ca' Granda, Ospedale Maggiore Policlinico. Il Prof. Comi svolge attività di reparto dal 1997, dal 2007 è Capo Reparto Degenza, responsabile di una sezione del reparto di Neurologia, dotato di 9 letto di degenza ordinaria. In tale veste svolge turni di guardia interna ed esterna ed ambulatorio specialistico neurologico generale. E' inoltre responsabile dell'attività ambulatoriale e di day Hospital per la Sclerosi Laterale Amiotrofica e le neuropatie. Inoltre il Prof. Comi continua a svolgere l'attività specialistica nell'ambulatorio del "Centro Dino Ferrari per lo studio e la terapia delle neuromuscolari e neurodegenerative" dedicato principalmente alle malattie muscolari. Attività di docenza dal 1992 nella Facoltà di Medicina e Chirurgia dell'università degli Studi di Milano (dettaglio attività descritto nel campo "altre informazioni"). Dal 2001 il Prof. Comi dirige l'attività di diagnostica biochimica e biomolecolare del Laboratorio Radioisotopi di Biochimica e Genetica del Dipartimento di Scienze Neurologiche. In particolare sulla base della attività di ricerca applicata, ha introdotto e validato tests diagnostici per un ampio spettro di malattie neuromuscolari e neurodegenerative. Inoltre nel laboratorio è eseguita ricerca di base e pre-clinica in merito allo studio dei meccanismi eziopatogenetici molecolari delle malattie neurologiche e neurodegenerative e allo sviluppo di nuove strategie terapeutiche molecolari e cellulomediate. L'attività di ricerca è svolta anche in collaborazione con Centri di ricerca internazionali in particolare con la Columbia University of New York, con la Ohio State University, e l'harvard Medical School. E' stato relatore e moderatore in congressi nazionali ed internazionali. Partecipazioni a Sperimentazioni farmacologiche : Investigator "Multicenter trial with Ubidecarenone: treatment of mitochondrial myopathies" Principal Investigator. Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD). Protocollo PTC124-GD-007-DMD Principal Investigator. Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD). Protocollo PTC124-GD- 007e-DMD Pag. 88 di 81

18 Principal Investigator. A randomized, double-blind, placebocontrolled clinical study to assess the efficacy and safety of GSK in ambulant subjects with Duchenne muscular dystrophy. Protocollo GSK Principal Investigator. "Phase II, multicenter, randomized, adaptive, double-blind, placebo controlled study to assess safety and efficacy of olesoxime TRO19622) in 3-25 year old Spinal Muscular Atrophy (SMA) patients"studio di fase II, multicentrico, randomizzato, adattivo, in doppio cieco, controllato con placebo per valutare la sicurezza e l'efficacia di olesoxime (TRO19622) in pazienti affetti da atrofia muscolare spinale (SMA) tra i 3 e 25 anni" (Prot. Promotore N. TRO19622 CL E Q ) Principal Investigator "Protocol No. PTC124-GD-019-DMD entitled "An Open-Label Study for Previously Treated Ataluren (PTC124 ) Patients with Nonsense Mutation Dystrophinopathy" "Studio in due parti per valutare la sicurezza e la tollerabilità, la farmacocinetica, e gli effetti sull istologia e i diversi paramentri clinici di Givinostat in bambini deambulanti affetti da distrofia muscolare di Duchenne, secondo il Protocollo di studio n DSC/11/2357/43, relativa al farmaco Givinostat A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy. H6D-MC-LVJJ Pag. 89 di 81

19 Elenco Pubblicazioni Prof. Giacomo Pietro Comi Settore scientifico-disciplinare: MED/26-Neurologia Anni Pag. 90 di 81

20 Lavori originali su riviste recensite da "Current Contents" del Prof. Giacomo Pietro Comi: In parentesi è riportato, ai fini comparativi, lo Scientific Journal Impact Factor da "Journal of Citation Reports" riferito all'anno di pubblicazione o al valore dell'anno più prossimo. Impact Factor Lavori Originali: 1. Bresolin N., Bet L., Moggio M., Meola G., Comi G., Scarlato G. Muscle G6PD deficiency The Lancet, July 25, , Bresolin N., Bet L., Binda A., Moggio M., Comi G., Nador F., Ferrante C., Carenzi A., Scarlato G. Clinical and biochemical correlations in mitochondrial myopathies treated with Coenzyme Q10. Neurology, 38, 6, , Bresolin N., Bet L., Moggio M., Meola G., Fortunato F., Comi G., Adobbati L., Geremia L., Pittalis S., Scarlato G. Muscle glucose-6-phosphate dehydrogenase deficiency. Journal of Neurology, 236, , Doriguzzi C., Palmucci L., Mongini T., Bresolin N., Bet L., Comi G., Lala R. Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficency. Journal of Neurology, Neurosurgery and Psychiatry, 52, , Scarlato G., Bresolin N., Moroni I., Doriguzzi C., Castelli E., Comi G., Angelini C., Carenzi A. Multicenter trial with Ubidecarenone: treatment of 44 patients with mitochondrial myopathies. Revue Neurologique, 6-7, , Bresolin N., Martinelli P., Barbiroli B., Zaniol P., Ausenda C., Montagna P., Gallanti A., Comi G.P., Scarlato G., Lugaresi E. Muscle mitochondrial DNA deletion and 31 P-MR spectroscopy alterations in a migraine patient. J Neurol Sci, 104, , Prelle A., L. Chianese, M. Moggio, Gallanti A., M. Sciacco, N. Checcarelli, G. Comi, E. Scarpini, E. Bonilla, G. Scarlato. Appearance and localization of dystrophin in normal human fetal muscle. Int J Dev Neuroscience, 9, 6, , Ninfali P., Bresolin N., Baronciani L., Fortunato F., Comi G., Magnani M., Scarlato G. Glucose-6-Phospate Dehydrogenase Lodi 844C : a study of its expression in blood cells and muscle. Enzyme, 45, , Pag. 91 di 81

21 9. A. Prelle, M. Moggio, G.P. Comi, A.Gallanti, N. Checcarelli, N. Bresolin, P. Ciscato, F. Fortunato, G. Scarlato. Congenital myopathy associated with abnormal accumulation of desmin and dystrophin. Neuromuscular Disorders, 2 (3), , Bresolin N., Moroni I., Meola G., Comi G.P., Scarlato G. The biochemistry of mitochondrial myopathies. The Italian Journal of Neurological Sciences.Aprile 1992 vol 13 Suppl 3. pg Meola G, Rotondo G, Velicogna M, Bresolin N., Comi G.P., Scarlato G. Expression of respiratory chain deficiencies in human cell cultures. The Italian Journal of Neurological Sciences. Aprile 1992 vol 13, Suppl 3, pg Comi G.P., Bresolin N., Meola G., Moroni I., Gonano E.F., Ausenda C., Scarlato G. Therapeutic trials of mitochondrial encephalomyopathies. The Italian Journal of Neurological Sciences.Aprile 1992 vol 13, Suppl 3, pg Ravasio A., Piscaglia M.G., Bresolin N., Pasquinelli M, Comi G.P., Moggio M., Curro' Dossi B. Familial CPEO with multiple deletions of mitochondrial DNA: clinical, histological, biochemical, and genetic studies. The Italian Journal of Neurological Sciences. vol 13 Suppl 3. pg , Ciucci G., Serra G., Neri W., Callegarini C., Comi G.P., Rebucci G.G. Neurophysiological findings in mitochondrial cytopathy: observations in 6 cases. The Italian Journal of Neurological Sciences.Aprile 1992 vol 13, Suppl 3. pg N. Bresolin, G.P. Comi, F. Fortunato, G. Meola, A. Gallanti, A. Tajana, M. Velicogna, E.F. Gonano, P. Ninfali, S. Pifferi, G. Scarlato. Clinical and biochemical evidence of skeletal muscle involvement in galactose-1- phosphate uridyl transferase deficiency. Journal of Neurology, 240, , Prelle A., Moggio M., Checcarelli N, Comi G., Bresolin N, Battistel A., Bordoni A., Scarlato G. Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis. Journal of the Neurological Sciences,11, 24-27, Miletich R.S., Comi G., Bankiewicz K., Plunkett R., Adams R., Di Chiro, G. Kopin I. Pag. 92 di 81

22 6-[ 18 F]Fluoro-L-Dopa metabolism and positron emission tomography after catechol- O-methyl transferase inhibition in normal and hemiparkinsonian monkeys. Brain Research, 626, 1-13, G.P. Comi, A. Prelle, N. Bresolin, M. Moggio, A. Bardoni, A. Gallanti, G. Vita, A. Toscano, M.T. Ferro', A. Bordoni, F. Fortunato, P. Ciscato, G. Felisari, S. Tedeschi, E. Castelli, R. Garghentino, A. Turconi, P. Fraschini, E. Marchi, G.G. Negretto, L. Adobbati, G. Meola, P. Tonin, A. Papadimitriou, G. Scarlato. Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain, 117, 1-14, Prelle A., Fagiolari G., Checcarelli N., Moggio M., Battistel A., Comi G.P., Bazzi P., Bordoni A., Zeviani M., Scarlato G. Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level. Acta Neuropathologica, 87: , Checcarelli N, Prelle A., Moggio M., Comi G., Bresolin N., Papadimitriou A., Fagiolari G., Bordoni A., Scarlato G. Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy. Journal of the Neurological Sciences, 123: 74-79, Bet L., Moggio M., Comi G.P., Mariani C., Prelle A., Checcarelli N., Bordoni A., Bresolin N., Scarpini E., Scarlato G. Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases. Journal of Neurology, 241: , Fassati A., Bordoni A., Amboni P., Fortunato F., Fagiolari G., Bresolin N., Prelle A., Comi G., Scarlato G. Chronic progressive external ophthalmoplegia: a comparative study of quantitative molecular data and histochemical and biochemical profile. Journal of the Neurological Sciences, 123: , Bresolin N., Castelli E., Comi G.P., Felisari G., Bardoni A., Perani D., Grassi F., Turconi A., Mazzucchelli F., Gallotti D., Moggio M., Prelle A., Ausenda C., Fazio G., Scarlato G. Cognitive impairment in Duchenne Muscular Dystrophy. Neuromuscular Disorders, 4 (4): , Mariotti C., Savarese N., Soumalainen A., Rimoldi M., Comi G., Prelle A., Antozzi C., Servidei S., Jarre L., Di Donato S., Zeviani M. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. Journal of Neurology, 242: , Bresolin N., Comi G.P., Ausenda C., Mazzucchelli F., Bardoni A., Robotti M. Recent advances on molecular genetics of neuromuscular diseases. Neuropathology and Applied Neurobiology, 21(S1), 30-31, Pag. 93 di 81

23 26. Moroni I., Gonano E.F., Comi G.P., Tegazzin V., Prelle A., Bordoni A., Bresolin N., Scarlato G. Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility. Journal of Neurology, 242: , Toscano A., Vitiello L., Comi G.P., Cavagni F., Prelle A., Fortunato F., Bardoni A., Fiumara A., Falsaperla R., Tomelleri G., Tonin P., Danieli G.A., Messina C. Vita G. Duplication of dystrophin gene and dissimilar clinical phenotype in the same family. Neuromuscular disorders, 4: , Rigoletto C., Prelle A., Ciscato P., Moggio M., Comi G., Fortunato F., Scarlato G. Utrophin expression during human fetal development Int J Dev Neuroscience, 13: , Comi G.P., Ciafaloni E., Da Silva R.H.A., Prelle A., Bardoni A., Rigoletto C., Robotti M., Bresolin N., Moggio M., Fortunato F., Ciscato P., Turconi A., Roses A.D., Scarlato G. A G +1 >A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient Human Molecular Genetics, 4: , Rapuzzi S., Prelle A., Moggio M., Rigoletto C., Ciscato P., Comi G., Francesca F., Scarlato G. High serum creatin kinase levels associated with cylindrical spirals at muscle biopsy. Acta Neuropathologica, 90: , Zeviani M., Amati P., Comi G., Fratta G., Mariotti C., Tiranti V. Searching for genes affecting the structural integrity of mitochondrial genome. Biochimica et Biophysica Acta, 1271: , Papadimitriou A., Hadjigeorgiou G.M., Divari R., Papagalanis N., Comi G., Bresolin N. The influence of Coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre Syndrome and hypoparathyroidism. Neuromuscular Disorders, 6: 49-53, Kaukonen J.A., Amati P., Soumalainen A., Rotig A., Piscaglia M.G., Salvi F., Weissenbach J., Fratta G., Comi G., Peltonen L., Zeviani M. An autosomal locus predisposing to multiple deletions of mtdna on chromosome 3p. American Journal of Human Genetics, 58: , Toscano A., Santoro M., Vita G., Girlanda P., Sinicropi S., Fazio M.C., Mazzeo A., Rodolico C., Agennouz M., Bartolone S., Bet L., Comi G.P., Messina C. Late-onset mitochondrial neuromyopathy: an age-related phenomenon? Archives of Gerontology and Geriatrics, S5: , Ausenda C.D:, Bresolin N., De Liso A., D'Angelo M.G., Moggio M., Del Bo R., Gallanti A., Comi G.P., Torrente Y., Bordoni A., Scarlato G. Pag. 94 di 81

24 In vivo biolistic technique in control and mdx dystrophic mice. Muscle and Nerve, 19 (7) , Bresolin N., Comi G.P., Ausenda C., Robotti M., Colucci M., Scarlato G. MtDNA defects in degenerative disorders Basic and Applied Myology, 6 (2), 79-89, 37. Prelle A., Rigoletto C., Moggio M., Sciacco M., Comi G.P., Ciscato P., Fagiolari S., Rapuzzi S., Bignotti V., Scarlato G. Asymptomatic familial hyperckemia associated with desmin accumulation in skeletal muscle. Journal of the Neurological Sciences, 140: , R. Del Bo, G.P. Comi, N. Bresolin, E. Castelli, E. Conti, A. Degiuli, C.D. Ausenda and G. Scarlato. The Apolipoprotein E 4 allele causes a faster decline of cognitive performances in Down s syndrome subjects. Journal of the Neurological Sciences, 145: 87-91, Bresolin N., Ausenda C.D., Casati R., Torrente Y., De Liso A., D'Angelo M.G., Benti R., Moggio M., Baldessari S., Comi G.P., Colombo F., Gerundini P., Scarlato G. Intra-aortic injection of myoblasts in mdx mice: genetic and Tc-99m cell labelling and biodistribution. Muscle and Nerve, 20: , Prelle A, Comi GP, Rigoletto C, Turconi A, Felisari G, Ciscato P, Fortunato F, Messina S, Bresolin N, Mora M, Moggio M, Scarlato.G. An atypical case of partial merosin deficiency congenital muscular dystrophy. Journal of Neurology, , Ausenda CD, D'Angelo MG, Bresolin N, Nesti S, Bordoni A, Del Bo R, Baldessari S, Comi GP, Scarlato G. Forced expression of MyoD creates a muscle-specific test system for exogenous genes. Basic and Applied Myology,7: , Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW, Scarlato G. Cytochrome c Oxidase Subunit I microdeletion in a patient with Motor Neuron Disease. Annals of Neurology, 43, , Manning B.M., Quane K.A., Lynch P.J., Urwyler A., Tegazzin V, Krivosic-Horber R., Censier K., Comi G., Adner P, Wolz W., Lunardi J, Muller C.R., McCarthy TV. Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hypertermia. Human Mutation, 11:45-50, Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, Halloren JO, Hartung E, Giblin L, Lynch P, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L, Monsieurs K, Fagerlund T, Woltz W, Heffron JJA, Muller CR, Mc Carthy TV Identification of novel mutations in the ryanodine receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlations. American Journal of Human Genetics, 62: , Pag. 95 di 81

25 45. Prelle A, Comi GP, Tancredi L, Rigoletto C, Ciscato P, Fortunato F, Nesti S, Sciacco M, Robotti M, Bazzi P, Felisari G, Moggio M, Scarlato G. Sarcoglycan deficiency in a large italian population of myopathic patients. Acta Neuropathologica, 96: , Franceschina L, Salani S, Bordoni A, Sciacco M, Napoli L, Comi GP, Prelle A, Fortunato F, Hadjigeorgiou GM, Farina E, Bresolin N, D'Angelo MG, Scarlato G. A novel mitochondrial trna Ile point mutation in chronic progressive external ophthalmoplegia. Journal of Neurology, 245: , Papadimitriou A, Comi GP, Hadjigeorgiou GM, Bordoni A, Sciacco M, Napoli L, Prelle A, Moggio M,. Fagiolari G, Bresolin N, Salani S, Anastasopoulos I, Giassakis G, Divari R, Scarlato G. Partial depletion and multiple deletions of muscle mtdna in familial MNGIE syndrome. Neurology, 51: , D'Angelo MG, Ausenda CD, Torrente Y, Bordoni A, Corti S, Perini MP, Colucci M, Comi GP, Bresolin N, Scarlato G. 5' Azacytidine enhances exogenous gene expression in skeletal muscle Basic and Applied Myology, 9 (1): 1-6; Arbustini E., Fasani R., Morbini P., Diegoli M., Grasso M., Dal Bello B., Marangoni E., Banfi P., Bancheri N., Bellini O., Comi G., Narula J., Campana C., Gavazzi A., Danesino C., Viganò M. Coexistence of mitochondrial DNA and β miosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure Heart, 80: , Torrente Y., M.G. D'Angelo, R. Del Bo, A. DeLiso, R. Casati, R. Benti, S. Corti, G.P. Comi, P. Gerundini, A. Anichini, G. Scarlato, N. Bresolin Extracorporeal circulation as a new experimental pathway for myoblast implantation in mdx mice. Cell Transplantation, 8: ; Bardoni A., Sironi M., Felisari G., Comi G.P., Bresolin N. Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy. The Lancet, 353: ; Hadjigeorgiou G.M., Comi G.P., Bordoni A., Shen J., Chen Y-T., Salani S., Toscano A., Fortunato F., Lucchiari S., Bresolin N., Rodolico C., Piscaglia M.G., Franceschina L., Papadimitriou A., Scarlato G. Novel donor splice site mutations of AGL gene in Glycogen Storage Disease type IIIa Journal of Inherited Metabolic Disease, 22: ; Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T Pag. 96 di 81

26 Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency Annals of Neurology, 46(2):161-6, Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L, Suomalainen A A third locus predisposing to multiple deletions of mtdna in autosomal dominant progressive external ophthalmoplegia American Journal of Human Genetics 1999 Jul;65(1): Turconi A.C., Benti R., Castelli E., Pochintesta S. Felisari G., Comi G., Gagliardi C., Del Piccolo L., Bresolin N. Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study. Journal of the Neurological Sciences 170: 57-63; Bardoni A, Felisari G., Sironi M., Comi G., Lai M., Robotti M. Bresolin N. Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies. Neuromuscular Disorders 10(3): ; Prelle A., Sciacco M., Comi G.P., Messina M., Carpo M., Ciscato P., Nobile-Orazio E., Fortunato F., Mora G:, Bignotti V., Fagiolari G., Moggio M., Scarlato G. A sporadic, atypical case of desminopathy: morphological and immunological characterization. Clinical Neuropathology, 19 (4): ; Musumeci O., Andreu A.L., Shanke S., Bresolin N., Comi G.P., Rothstein R., Schon E.A. DiMauro. S. Intragenic inversion of mtdna: a new type of pathogenic mutation in a patient with mitochondrial myopathy. American Journal of Human Genetics, 66: ; Felisari G., Martinelli Boneschi F., Bardoni A., Sironi, Comi G.P., Bresolin N. Loss of Dp140 apodystrophin and intellectual impairment in Duchenne Dystrophy. Neurology, 55: , Torrente Y, D'Angelo M.G., Li Z., Del Bo R, Corti S., Mericskay M., DeLiso A., Fassati A, Paulin D., Comi G.P., Scarlato G., Bresolin N., Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency. Human Molecular Genetics, 9: ; Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A. Role of adenine nucleotide translocator 1 in mtdna maintenance. Science, 289: , Del Bo R, Torrente Y; Corti S, D'Angelo M.G, G.P. Comi, G. Fagiolari, S. Salani, A. Cova, F. Pisati, M.Moggio, C. Ausenda, G. Scarlato, N. Bresolin. In vitro and in vivo tetracycline-controlled myogenic conversion of NIH-3T3 cells: evidence Pag. 97 di 81 of programmed cell death after muscle cell transplantation

27 Cell Transplantation,. 10: , Roberto Del Bo, Giacomo Pietro Comi, Maria Paola Perini, Sandra Strazzer, Nereo Bresolin, Guglielmo Scarlato Down syndrome fibroblasts anticipate the accumulation of specific ageing-related mtdna mutations. Annals of Neurology, 49: , R. Cagliani, G.P. Comi, L. Tancredi, M. Sironi, F. Fortunato, R. Giorda, A. Bardoni, M. Moggio, A. Prelle, N. Bresolin, G. Scarlato Primary Beta-Sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscular disorders, 11: , Corti S., Salani S., Del Bo R. Torrente Y., Strazzer S., Belicchi M., Paganoni S., Li Z., Comi G.P., Bresolin N., Paulin D., Scarlato G. T-antigen regulated expression reduces apoptosis of Tag transformed myoblasts. Cellular and Molecular Life Science, 58: , Savasta S. Comi G. P., Perini M. P., Lupi A., Strazzer S., Rognone F., Rossone R. Leigh's Syndrome: clinical, neuroradiological and biochemical study of three new cases with Cytochrome c Oxidase deficiency. Journal of Child Neurology. 16: , Sciacco M., Fagiolari G., Lamperti C., Messina M., Bazzi P., Napoli L., Chiveri L., Prelle A., Comi G.P., Bresolin N., Scarlato G. Lack of apoptosis in mitochondrial encephalomyopathies. Neurology, 56: , M. Sironi, S. Corti, F. Locatelli, R. Cagliani, Comi G.P. A novel splice site mutation in the dystrophin gene determining total exon skipping and DMD phenotype Human Mutation, 17 (3): 239, Sironi M., Bardoni A., Felisari G., Cagliani R., Robotti M., Comi G.P., Moggio M., Bresolin N. Transcriptional activation of the non muscle full-length dystrophin isoforms in Duchenne Muscular Dystrophy skeletal muscle. Journal of the Neurological Sciences, 186: 51-7, Lucchiari S., Fogh I., Parini R., Bresolin N., Prelle A., Melis D., Scarlato G., Comi G.P. Heterogeneous mutations of amylo-1,6-glucosidase, 4- glucanotransferase enzyme gene in Mediterranean Glycogen Storage Disease type IIIa patients. American Journal of Medical Genetics, 109: , Sciacco M., Prelle A., Comi G.P., Napoli L., Battistel A., Bresolin N., Tancredi L., Lamperti C., Bordoni A., Fagiolari G., Chiveri L., Perini M.P., Fortunato F., Adobbati L., Messina S., Toscano A., Martinelli-Boneschi F., Papadimitriuou A., Scarlato G., Moggio M. Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. Journal of Neurology, 248: , Pag. 98 di 81

28 72. Comi G.P, Fortunato F., Lucchiari S., Bordoni A., Prelle A., Jann S., Keller A., Ciscato P., Galbiati S., Chiveri L., Torrente Y., Scarlato G., Bresolin N. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Annals of Neurology, 50: , Corti S., Salani S., Del Bo R. Sironi M., Strazzer S., D'Angelo M.G., Comi G.P., Bresolin N., Scarlato G. Chemotactic factors enhance myogenic cells migration across an endothelial monolayer. Experimental Cell Research, 268: 36-44, Sironi M., Pozzoli U., Cagliani R., Comi G.P, Bardoni A., Bresolin N. Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms Human Genetics, 109: 73-84, Spelbrink J.N., Li F.-Y., Tiranti V., Nikali K., Yuan Q.-P., Tariq M., Wanrooij S., Garrido N., Comi G., Morandi L., Santoro L., Toscano A., Fabrizi G.M., Somer H., Croxen R., Beeson D., Poulton J., Suomalainen A., Jacobs H.T., Zeviani M., Larsson C. Human mitochondrial DNA deletions associated with mutations in the gene for TWINKLE, a phage T7 gene 4-like protein localized to mitochondrial nucleoids. Nature Genetics, 28:223-31, Prelle A., Tancredi L., Chiveri L., Comi G.P., Sciacco M., Battistel A., Ciscato P., Bordoni A., Fortunato F., Strazzer S., Napoli L., Scarlato G., Moggio M. Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels. Journal of Neurology, 249(3):305-11, Napoli L., Bordoni A., Zeviani M., Hadjigeorgiou G.M., Sciacco M., Tiranti V., Terentiou A, Moggio M., Papadimitriou A., Scarlato G., Comi G.P. A novel missense Adenine Nucleotide Translocator-1 gene mutation in a Greek adpeo family. Neurology, 57: , Pozzoli U., Sironi M., Cagliani R., Comi G.P., Bardoni A., Bresolin N. Comparative analysis of the human dystrophin and utrophin gene structures. Genetics, 160(2): Fagiolari G., Sciacco M., Lamperti C., Prelle A., Chiveri L., Comi G.P., Scarlato G., Moggio M. A Lack of of apoptosis in skeletal muscle tissue of PEO patients with mutations in the Adenine Nucleotide Translocator-1 gene. Muscle Nerve, 26: , Sironi M., Caglian R., Bardoni A., Comi G.P., Bresolin N. The dystrophin gene is alternatively spliced throughout its coding sequence. FEBS Letters 517: , Lamantea E., Tiranti V., Bordoni A., Toscano A., Bono F., Servidei S., Papadimitriou A., Spelbrink H., Silvestri L., Casari G., Comi G.P., Zeviani M.. Pag. 99 di 81

29 Mutations of mitochondrial DNA polymerase are a frequent cause of autosomal dominant or recessive Progressive External Ophthalmoplegia. Annals of Neurology, 52: , Corti S, Strazzer S, Del Bo R., Salani S., Bossolasco P., Fortunato F., Locatelli F., Soligo D., Moggio M., Ciscato P., Prelle A., Bresolin N., Scarlato N., Comi G.P. A subpopulation of murine bone marrow cells fully differentiates along the myogenic pathway and participates in muscle repair in the mdx dystrophic mouse. Experimental Cell Research, 277:74-85, Corti S, Locatelli F., Strazzer S, Salani S., Del Bo R., Soligo D., Bossolasco P., Bresolin N., Scarlato N., Comi G.P. Modulated generation of neuronal cells from bone marrow by expansion and mobilization of circulating stem cells with in vivo cytokine treatment. Experimental Neurology, 177: ; Corti S, Locatelli F., Donadoni C., Strazzer S, Salani S., Del Bo R., Caccialanza M., Bresolin N., Scarlato N., Comi G.P. Neuroectodermal and microglial differentiation of bone marrow cells in the mouse spinal cord and sensory ganglia. Journal of Neuroscence Research, 70:721-33, Crimi M., Sciacco M., Galbiati S., Bordoni A., Malferrari G., Del Bo R. Biunno I, Bresolin N., Comi GP. A collection of nuvel unpublished human mtdna homoplasmic variants. Human Mutation, 20: 409, Del Bo R., Bordoni A., Martinelli Boneschi F., Crmi M., Sciacco M, Bresolin N, Scarlato G, Comi G.P. Evidence and age-related distribution of mtdna D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients. Journal of Neurological Science 202: 85-91, Cagliani R, Bardoni A., Sironi M., Fortunato F., Prelle A., Felisari G., Bonaglia M.C., D Angelo M.G., Moggio M., Bresolin N., Comi G.P. Two dystrophin proteins and transcripts in a mild dystrophinopatic patient. Neuromuscular Disorders, 2003 Jan;13(1): Lucchiari S., Parrini R., Bresolin N., Scarlato G. Comi G.P. Molecular Characterization of GSD III Subjects: Identification of Six Novel Mutations in AGL Gene Human Mutation, 20(6):480, Scarlato G., Comi G.P. Metabolic and drug-induced muscle disorders. Current Opinion in Neurology, 15(5): Sironi M., Pozzoli U., Cagliani R., Giorda R., Comi G.P., Bardoni A., Menozzi G., Bresolin N. Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot. Pag. 100 di Human Genetics, 2003 Mar;112(3):

30 91. Prelle A, Sciacco M, Tancredi L, Fagiolari G, Comi GP, Ciscato P, Serafini M, Fortunato F, Zecca C, Gallanti A, Chiveri L, Bresolin N, Scarlato G, Moggio M. Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. Acta Neuropathologica, 2003 Jun;105(6): Del Bo R., Crimi M., Sciacco M., Malferrari G., Napoli L., Prelle A., Biunno I., Moggio M., Bresolin N., Scarlato G., Comi G.P. High mutational burden in the mtdna control region from aged muscles: a single-fiber study. Neurobiology of Aging, 2003 Oct;24(6): Crimi M., Galbiati S., Perini M.P., Bordoni A., Malferrari G., Sciacco M., Biunno I., Strazzer S., Moggio M., Bresolin N., Comi G.P. A mitochondrial trna His gene mutation causing pigmentary retinopathy and neurosensorial deafness. Neurology, 2003 Apr 8;60(7): Sironi M, Cagliani R, Comi GP, Pozzoli U, Bardoni A, Giorda R, Bresolin N. Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles. FEBS Letters Feb 27;537(1-3): Pozzoli U, Elgar G, Cagliani R, Riva L, Comi GP, Bresolin N, Bardoni A, Sironi M. Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature. Genome Research May;13(5): Del Bo R, Comi GP, Giorda R, Crimi M, Locatelli F, Martinelli-Boneschi F, Pozzoli U, Castelli E, Bresolin N, Scarlato G. The 129 codon polymorphism of the Prion Protein gene influences earlier cognitive performance in Down syndrome subjects. Journal of Neurology 2003 Jun;250(6): Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology Jun 10;60(11): Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Di Fonzo A, Castagni M, Bresolin N, Comi GP. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusionbody myopathy. Muscle Nerve Jul;28(1): Corti S, Locatelli F, Strazzer S, Guglieri M, Comi GP. Neuronal generation from somatic stem cells: current knowledge and perspectives on the treatment of acquired and degenerative central nervous system disorders. Current Gene Therapy Jun;3(3): Pag. 101 di

31 100. Lucchiari S., Donati MA, Melis D, Filocamo M, Parini R, Bresolin N., Comi GP Mutational Analysis in AGL Gene: Five Novel Mutations in GSD III Patients Human Mutation, 2003 Oct;22(4): Crimi M., del Bo R., Galbiati S., Sciacco M., Bordoni A., Bresolin N., Comi GP. Mitochondrial A12308G polymorphism affects clinical features in patients with single mtdna macrodeletion European Journal of Human Genetics, Nov;11(11):896-8., Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, Bresolin N, Comi GP. Remarkable infidelity of polymerase gammaa associated with mutations in POLG1 exonuclease domain. Neurology Oct 14;61(7): Di Fonzo A., Bordoni A., Crimi M., Galbiati S., Del Bo R., Bresolin N., Comi G.P. POLG Mutations in Sporadic Mitochondrial Disorders with Multiple mtdna Deletions Human Mutation, 674, Cagliani R., Bresolin N., Pelle A., Gallanti A., Fortunato F., Sironi M., Ciscato P., Fagiolari G., Bonato S., Galbiati S., Corti S., Lamperti C., Moggio M. Comi G.P. A CAV3 microdeletion differentially affects skeletal muscle and myocardium. Neurology, 61: , Sciacco M., Prelle A. D Adda E., Lamperti C., Bordoni A., Rango M., Comi GP, Bresolin N, Moggio M. Familial mtdna T8993C transition causing both the NARP and the MILS phenotype in the same generation: a morphological, genetic and spectroscopy. Journal of Neurology, 250(12): , Locatelli F., Corti S., Donadoni C., Guglieri M., Capra F., Strazzer S., Salani S., Del Bo R., Fortunato F., Bordoni A. Comi G.P. Neuronal Differentiation of Murine Bone Marrow Thy-1 and Sca-1 positive cells. Journal of Hematotherapy and Stem Cell Research. 12 (6):727-34, Cagliani R., Fortunato F, Giorda R, Rodolico C, Bonaglia C., Sironi M., D Angelo MG, Prelle A., Locatelli F, Toscano A, Bresolin N, Comi G.P, Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Neuromuscular Disorders, 13: , Toscano A., Musumeci O., Cagliani R., Aguennouz M., Comi G.P., Messina C., Vita G. Muscle calpain-3 deficiency in quail eater s disease Annals of Neurology, 55: , Gironi M., Lamperti C., Nemni R., Moggio M., Comi G.P., Guerini F.R., BD, Ferrante P., Bresolin N., Canal N., DiMauro S. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology, 9;62(5):818-20, Pag. 102 di

32 110. Crimi M., Galbiati S., Sciacco M., Natali M.G., Raimondi M., Bordoni A., Bresolin N., Comi G.P. Mitochondrial-DNA nucleotides 4298 and as pathogenic mutation sites: the confirmation in two new cases. Mitochondrion, 3(5): , Crimi M. Papadimitriou A., Galbiati S., Palamidou P., Fortunato F., Bordoni A., Papandreou U., Papadimitriou D., Hadjigeorgiou GM., Drogari E., Bresolin N., Comi G.P. A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. Pediatric Research, 55(5):842-6., Bossolasco P., Corti S., Strazzer S., Borsetti C., del Bo R., fortunato F., Salani S., Quirici N., Bertolini F., Gobbi A., Lambertenghi Deliliers G., Comi G.P., Soligo D. Skeletal muscle differentiation potential of human adult bone marrow. Experimental Cell Research, 15;295(1):66-78., Sironi M, Menozzi G, Riva L, Cagliani R, Comi G.P., Bresolin N, Giorda R, Pozzoli U. Silencer elements as possible inhibitors of pseudoexon splicing. Nucleic Acids Res Mar 19;32(5): Cagliani R. Sironi M., Ciafaloni E., Bardoni A., Fortunato F., Prelle A., Serafini M., Bresolin N., Comi G.P. An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype Human Genetics, 115(1):13-8, 2004, 115. Salani S, Lucchiari S, Fortunato F, Crimi M, Corti S, Locatelli F, Bossolasco P, Bresolin N, Comi GP. Developmental and tissue-specific regulation of a novel dysferlin isoform. Muscle and Nerve, 30(3):366-74, Pozzoli U, Riva L, Menozzi G, Cagliani R, Comi GP, Bresolin N, Giorda R, Sironi M. Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mrna processing. Biochem Biophys Res Commun. 17;322(2):470-6, Corti S, Locatelli F, Papadimitriou D, Strazzer S, Comi GP. Somatic stem cell research for neural repair: current evidence and emerging perspectives. J Cell Mol Med Jul-Sep;8(3): Corti S, Locatelli F, Donadoni C, Guglieri M, Papadimitriou D, Strazzer S, Del Bo R, Comi GP. Wild-type bone marrow cells ameliorate the phenotype of SOD1-G93A ALS mice and contribute to CNS, heart and skeletal muscle tissues. Brain. 2004;127: Donadoni C, Corti S, Locatelli F, Papadimitriou D, Guglieri M, Strazzer S, Bossolasco P, Salani S, Comi GP. Improvement of combined FISH and immunofluorescence to trace the fate of somatic stem Pag. 103 di cells after transplantation.

33 J Histochem Cytochem Oct;52(10): Del Bo R, Scarlato M, Ghezzi S, Martinelli Boneschi F, Fenoglio C, Galbiati S, Virgilio R, Galimberti D, Galimberti G, Crimi M, Ferrarese C, Scarpini E, Bresolin N, Comi GP. Vascular endothelial growth factor gene variability is associated with increased risk for AD. Annals of Neurology, 2005 Feb 24;57(3): Crimi M, Bordoni A, Menozzi G, Riva L, Fortunato F, Galbiati S, Del Bo R, Pozzoli U, Bresolin N, Comi GP. Skeletal muscle gene expression profiling in mitochondrial disorders. FASEB J. 2005; 19(7): Guidi I, Galimberti D, Venturelli E, Lovati C, Bo RD, Fenoglio C, Gatti A, Dominici R, Galbiati S, Virgilio R, Pomati S, Comi GP, Mariani C, Forloni G, Bresolin N, Scarpini E. Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients. Neurobiol Aging Jun;26(6): Scarlato M, Previtali SC, Carpo M, Pareyson D, Briani C, Del Bo R, Nobile-Orazio E, Quattrini A, Comi GP. Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis. Brain 2005, 128: Sironi M., Menozzi G., Comi G.P., Bresolin N., Cagliani R., Pozzoli U. Fixation of conserved sequences shapes human intron size and influences transposon insertion dynamics Trends in Genetics, 2005, 21(9):484-8, 125. Guglieri M., Magri F., Comi G.P. Molecular etiopathogenesis of Limb Girdle Muscular and Congenital Muscular Dystrophies: boundaries and contiguities Clinical Chimica Acta, 2005, 361(1-2):54-79, Cagliani R., Magri F., Toscano A., Merlini L., Fortunato F., Lamperti C., Rodolico C., Prelle A., Sironi M., Aguennouz M., Ciscato P., Uncini A., Moggio M., Bresolin N. Comi G.P.. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. Human Mutation, 26(3):283, Corti S., Locatelli F., Papadimitriou D., Strazzer S., Bonato S., Comi G.P. Nuclear reprogramming and adult stem cell potential Histology and Histopathology, 2005, 20(3): Corti S., Locatelli F., Papadimitriou D., Donadoni C., Del Bo R., Fortunato F., trazzer S., Salani S., Bresolin N., Comi G.P. Multipotentiality, homing properties and pyramidal neurogenesis of CNS-derived LeX(ssea- 1) + /CXCR4 + stem cells FASEB Journal. 19(13): , 2005 Pag. 104 di

34 129. Sironi M.., Menozzi G., Comi G.P., Cagliani R., Bresolin N., Pozzoli U. Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on noncoding sequences. Human Molecular Genetics, 14(17): , Del Bo R., ScarlatoM., Ghezzi S., Martinelli-Boneschi F., Fenoglio C., Galimberti G., Galbiati S., Virgilio R., Galimberti D., Ferrarese C., Scarpini E., Bresolin N., Comi G.P. Is M129V of PRNP gene associated with Alzheimer s disease? A case-control study and a meta-analysis. Neurobiology of Aging. 27(5):770.e1-770.e5., Galbiati S., Bordoni A., Papadimitriou D., Toscano A., Rodolico C., Katsarou E., Sciacco M., GarufiA., Prelle A., Aguennouz M., Bonsignore M., Crimi M., MartinuzziA., Bresolin N., Papadimitriou A., Comi G.P. New mutations in TK2 gene associated with mitochondrial DNA depletion Pediatric Neurology, 34: , Corti S, Locatelli F, Papadimitriou D, Donadoni C, Salani S, Del Bo R, Strazzer S, Bresolin N, Comi GP. Identification of a primitive brain-derived neural stem cell population based on aldehyde dehydrogenase activity. Stem Cells. 24: , D Adda E., Sciacco M., Fruguglietti M.E., Crugnola V., Lucchini V., Martinelli-Boneschi, Zecca C., Lamperti C., Comi G.P., Bresolin N., Moggio M., Prelle A.. Follow-up of a large population of asymptomatic / oligosymptomatic hyperckemic subjects. Journal of Neurology, Nov;253(11): , Corti S., Locatelli F., Papadimitriou D., Donadoni D., Del Bo R., Crimi M., Bordoni A., Fortunato F., Strazzer S., Menozzi G., Salani S., Bresolin N., Comi G.P. Transplanted ALDH hi SSC lo Neural Stem Cells Generate Motor Neurons and Delay Disease Progression of nmd Mice, an Animal Model of SMARD1 Human Molecular Genetics, 15: , Del Bo R., Locatelli F., Corti S., Scarlato M., Ghezzi S., Prelle A., Fagiolari G., Moggio M., Carpo M.,Bresolin N., Comi G.P. Coexistence of CMT-2D and distal SMA-V phenotype in an Italian family with a GARS gene mutation, Neurology, 2006; 14;66(5): Crippa F., Panzeri C., Martinuzzi A., Airoldi A., Redaelli F., Tonelli A., Baschirotto C., Mostacciuolo M.L., Daga A., Orso G., Profice P., D Angelo M.G. MD,Comi G.P., Galbiati S., Lamperti C., Pandolfo M., Meola G., Musumeci O., Toscano A., Trevisan C.P., Bresolin N., Bassi MT. Eight novel mutations in SPG4 gene in a large sample of patients with Hereditary Spastic Paraplegia Archives of Neurology, 63: , Capasso M, De Angelis MV, Di Muzio A, Scarciolla O, Pace M, Stuppia L, Comi GP, Uncini A. Familial idiopathic hyper-ck-emia: An underrecognized condition. Muscle Nerve. 33: , Pag. 105 di

35 138. Lamperti C, Cagliani R, Ciscato P, Moroni I, Viri M, Romeo A, Fagiolari G, Prelle A, Comi GP, Bresolin N, Moggio M. Congenital muscular dystrophy with muscle inflammation, alpha dystroglycan glycosylation defect and no mutation in FKRP gene. Journal of the Neurological Sciences, 15;243(1-2):47-51, Del Bo R, Scarlato M, Ghezzi S, Maestroni A, Sjolind L, Forsblom C, Wessman M, Groop PH, Comi GP, Bresolin N, Luzi L, Zerbini G. VEGF gene variability and type 1 diabetes: evidence for a protective role. Immunogenetics. 58: , Lucchiari S, Pagliarani S, Salani S, Filocamo M, Di Rocco M, Melis D, Rodolico C, Musumeci O, Toscano A, Bresolin N,Comi G.P. Hepatic and Neuromuscular Forms of Glycogenosis Type III: Nine Mutations in AGL Gene. Human Mutation, 27(6): , Sironi M., Pozzoli U., Comi G.P., Riva S., Bordoni A., Bresolin N., Nag D.K. A region in the dystrophin gene major hot-spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast. FASEB Journal, 20: , Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Human Mutation, 27(7):718, Corti S, Locatelli F, Papadimitriou D, Del Bo R, Nizzardo M, Nardini M, Donadoni C, Salani S, Fortunato F, Strazzer S, Bresolin N, Comi GP. Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model. Brain. 2007,130: Pozzoli U, Menozzi G, Comi GP, Cagliani R, Bresolin N, Sironi M. Intron size in mammals: complexity comes to terms with economy. Trends in Genetics (1): Valente L., Tiranti V., Marsano R,M,, Malfatti E., Fernandez-Vizarra E., Donnini C., De Gioia L., Burlina A,, Castellan C, Comi G.P., Savasta S., Ferrero I, Zeviani M.. Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu. American Journal of Human Genetics (1): Milic A., Daniele N., Bartoli M., Lochmuller H., Mora M, Comi G.P, Moggio M., Noulet F., Poupiot J., Roudat C, Richard I. In vitro assay for calpain 3 proteolytic activity indicates that around 30% of LGMD2A biopsies have normal activity. Neuromuscular Disorders, (1): Pag. 106 di

36 156. Fabbro F, Marini A, Felisari G, Comi GP, D'Angelo MG, Turconi AC, Bresolin N. Language disturbances in a group of participants suffering from Duchenne muscular dystrophy: a pilot study. Percept Mot Skills Apr;104(2): Locatelli F, Corti S, Papadimitriou D, Fortunato F, Del Bo R, Donadoni C, Nizzardo M, Nardini M, Salani S, Ghezzi S, Strazzer S, Bresolin N, Comi GP. Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice. Annals of Neurology. 2007; 62(1): Corti S, Nizzardo M, Nardini M, Donadoni C, Locatelli F, Papadimitriou D, Salani S, Del Bo R, Ghezzi S, Strazzer S, Bresolin N, Comi GP. Isolation and characterization of murine neural stem/progenitor cells based on Prominin-1 expression. Experimental Neurology. 2007;205(2): Ghione I, Di Fonzo A, Saladino F, Del Bo R, Bresolin N, Comi GP, Rango M. Parkin polymorphisms and environmental exposure: Decrease in age at onset of Parkinson's disease. Neurotoxicology May;28(3): Musumeci O, Aguennouz M, Comi GP, Rodolico C, Autunno M, Bordoni A, Baratta S, Taroni F, Vita G, Toscano A. Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency. Neuromuscular Disorders.17: , Del Bo R, Di Fonzo A, Ghezzi S, Locatelli F, Stevanin G, Costa A, Corti S, Bresolin N, Comi GP. SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation. Neurogenetics Nov;8(4): Bersano A, Del Bo R, Lamperti C, Ghezzi S, Fagiolari G, Fortunato F, Ballabio E, Moggio M, Candelise L, Galimberti D, Virgilio R, Lanfranconi S, Torrente Y, Carpo M, Bresolin N, Comi GP, Corti S. Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. Neurobiology of Aging Sep 22; [Epub ahead of print] 163. Torrente Y, Belicchi M, Marchesi C, Dantona G, Cogiamanian F, Pisati F, Gavina M, Giordano R, Tonlorenzi R, Fagiolari G, Lamperti C, Porretti L, Lopa R, Sampaolesi M, Vicentini L, Grimoldi N, Tiberio F, Songa V, Baratta P, Prelle A, Forzenigo L, Guglieri M, Pansarasa O, Rinaldi C, Mouly V, Butler-Browne GS, Comi GP, Biondetti P, Moggio M, Gaini SM, Stocchetti N, Priori A, D'Angelo MG, Turioni A, Bottinelli R, Cossu G, Rebulla P, Bresolin N. Autologous transplantation of muscle-derived CD133+ stem cells in Duchenne muscle patients. Cell Transplantation. 2007;16(6): Lucchiari S, Santoro D, Pagliarani S, Comi GP. Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency. Pag. 107 di

37 Acta Myologica Jul;26(1): Del Bo R, Scarlato M, Ghezzi S, Martinelli-Boneschi F, Corti S, Locatelli F,Santoro D, Prelle A, Briani C, Nardini M, Siciliano G, Mancuso M, Murri L, Bresolin N, Comi GP. Absence of angiogenic genes modification in Italian ALS patients. Neurobiology of Aging Feb;29(2): Del Bo R, Ghezzi S, Scarlato M, Albani D, Galimberti D, Lucca U, Tettamanti M, Scarpini E, Forloni G, Bresolin N, Comi GP. Role of VEGF gene variability in longevity: a lesson from the Italian population. Neurobiology of Aging Dec;29(12): Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, Lamperti C, Bresolin N, Comi GP. Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency. Journal of the Neurological Sciences Mar 15;266(1-2): Guglieri M., Magri F., D'Angelo M.G., Prelle A., Morandi L., Rodolico C., Cagliani R., Mora M., Fortunato F., Bordoni A., Del Bo R., Ghezzi S., Pagliarani S., Lucchiari S., Salani S., Zecca C., Lamperti C., Ronchi D., Aguennouz M., Ciscato P., Blasi C.D., Ruggieri A., Moroni I., Turconi A., Toscano A., Moggio M., Bresolin N., Comi G.P. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Human Mutation 2008 Feb;29(2): Arnoldi A., Tonelli A., Sironi M., Bozzoli U., Villani G., Pacelli C., Meola G., D Angelo M.G., Martinuzzi A., Crippa F., Comi G.P., Renieri A., Turioni A., Bresolin N., Bassi M.T. Clinical, genetic and biochemical studies of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia Human Mutation, 2008 Apr;29(4): Pozzoli U, Menozzi G, Fumagalli M, Cereda M, Comi GP, Cagliani R, Bresolin N, Sironi M. Both selective and neutral processes drive GC content evolution in the human genome. BMC Evolutionary Biology, 2008 Mar 27; 8: Virgilio R., Ronchi D., Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L,. Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Novel Twinkle (PEO1) gene mutations in mendelian Progressive External Ophthalmoplegia Journal of Neurology, 2008 Sep;255(9): Del Bo R, Ghezzi S, Corti S, Santoro D, Prelle A, Mancuso M, Siciliano G, Briani C, Murri L, Bresolin N, Comi GP. DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients. J Neurol Neurosurg Psychiatry Sep;79(9): Borroni B, Ghezzi S, Agosti C, Archetti S, Fenoglio C, Galimberti D, Scarpini E, Di Luca M, Bresolin N, Comi GP, Padovani A, Del Bo R. Preliminary evidence that VEGF genetic variability confers susceptibility to frontotemporal Pag. 108 di lobar degeneration.

38 Rejuvenation Res Aug;11(4): Beghi E, Millul A, Logroscino G, Vitelli E, Micheli A; SLALOM GROUP (D. Alimonti, D. Baldini, C. Balzarini, C. Bendotti, G. Bianchi, G. Bogliun, V. Bonito,Brambilla, L. Brunati, R. Causarano, M. Ceroni, A. Cheldi, A.Chiò, L. Chiveri, A. Citterio, M. Clerici, G. Comi, M. Corbo, M.L. Delodovici, E. Donati, C. Ferrarese, G. Filippini, P. Gambaro, L. Giordano, M. Guidotti, I. La Spina, P. Liberini, G. Mariani,T. Mennini, G. Meola, S. Moroni, E. Munerati, M. Perini, P. Perrone, M. Poloni, M. Porta, A. Prelle, M. Rezzonico, R. Riva, A. Romorini, F. Sasanelli, L. Serlenga, V. Silani, D. Testa, F. Tavernelli, M.C. Tonini. Outcome measures and prognostic indicators in patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Jun;9(3): Lucchiari S, Pagliarani S, Corti S, Mancinelli E, Servida M, Fruguglietti E, Sansone V, Moggio M, Bresolin N, Comi GP, Meola G. Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion. Journal of the Neurological Sciences Dec 15;275(1-2): Seibel P, Di Nunno C, Kukat C, Schäfer I, Del Bo R, Bordoni A, Comi GP, Schön A, Capuano F, Latorre D, Villani G. Cosegregation of novel mitochondrial 16S rrna gene mutations with the age-associated T414G variant in human cybrids. Nucleic Acids Res Oct;36(18): (6.954) 177. Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D, Saladino F, Bordoni A, Fortunato F, Del Bo R, Papadimitriou D, Locatelli F, Menozzi G, Strazzer S, Bresolin N, Comi GP. Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy. Journal of Clinical Investigation Oct;118(10): Cagliani R, Fumagalli M, Riva S, Pozzoli U, Comi GP, Menozzi G, Bresolin N, Sironi M. The signature of long-standing balancing selection at the human defensin beta-1 promoter. Genome Biology. 2008; 9(9):R143. (6.59). 179.Del Bo R, Moggio M, Rango M, Bonato S, D'Angelo MG, Ghezzi S, Airoldi G, Bassi MT, Guglieri M, Napoli L, Lamperti C, Corti S, Federico A, Bresolin N, Comi GP. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology Dec 9;71(24): (6.014) 180. Lambrechts D, Poesen K, Santiago RS, Al-Chalabi A, Del Bo R, Van Vught PWJ, Khan S, Marklund SL, Brockington A, van Marion I, Anneser J, Shaw C, Ludolph AC, Leigh NP, Comi GP, Gasser T, Shaw PJ, Morrison KE, Andersen PM, Van den Berg LH, Thijs V, Siddique T, Robberecht W, Carmeliet P. Meta-analysis of VEGF variations in ALS: increased susceptibility in male carriers of the 2578AA genotype Journal of Medical Genetics, 2009 Dec;46(12): Epub 2008 Apr 15. Pag. 109 di

39 181. Mercuri E., Messina S., Bruno C., Mora M., Pegoraro E., ComiG.P.,. D Amico A. Aiello C., Biancheri R., Berardinelli A., Boito C., Moggio M., Morandi L., Moroni I., Pane M., Pezzani, R., Pichiecchio A., Pini A.,Mongini T., Ricci E., Ruggieri A., Saredi A., Scuderi C., Tessa A., Toscano A., Tortorella G., Trevisan C.P.,Uggetti C., Vasco G., Santorelli F.M., Bertini E. Genotype-phenotype correlations in congenital muscular dystrophies with defective glycosylation of dystroglycan: a multicentric Italian study Neurology May 26;72(21): Epub 2009 Mar 18. PubMed 182 Del Bo R, Ghezzi S, Corti S, Pandolfo M, Ranieri M, Santoro D, Ghione I, Prelle A, Orsetti V, Mancuso M, Sorarù G, Briani C, Angelini C, Siciliano G, Bresolin N, Comi GP. TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. Eur J Neurol Jun;16(6): Epub 2009 Feb 19. PubMed PMID: : Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP. Mitochondrial DNA G8363A mutation in the trna Lys gene: clinical, biochemical and pathological study. J Neurol Sci Jun 15;281(1-2): Del Bo R, Ghezzi S, Scarpini E, Bresolin N, Comi GP. VEGF genetic variability is associated with increased risk of developing Alzheimer's disease. J Neurol Sci Aug 15;283(1-2): : Virgilio R, Corti S, Agazzi P, Santoro D, Lanfranconi S, Candelise L, Bresolin N, Comi GP, Bersano A. Effect of steroid treatment in cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies. J Neurol Neurosurg Psychiatry Jan;80(1): Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G,Fruguglietti ME Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M. Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene. J Inherit Metab Dis Apr 8. [Epub ahead of print] 187 Cagliani R, Fumagalli M, Pozzoli U, Riva S, Comi GP, Torri F, Macciardi F, Bresolin N, Sironi M. Diverse evolutionary histories for beta-adrenoreceptor genes in humans. Am J Hum Genet Jul;85(1): Epub 2009 Jul 2. PubMed 188. Cagliani R, Fumagalli M, Pozzoli U, Riva S, Cereda M, Comi GP, Pattini L, Bresolin N, Sironi M. A complex selection signature at the human AVPR1B gene. BMC Evol Biol Jun 1;9: Fumagalli M, Pozzoli U, Cagliani R, Comi GP, Riva S, Clerici M, Bresolin N, Sironi M. Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions. Pag. 110 di

40 J Exp Med Jun 8;206(6): Epub 2009 May : Bersano A, Del Bo R, Ballabio E, Cinnante C, Lanfranconi S, Comi GP, Baron P, Bresolin N, Candelise L. Transthyretin asn90 variant: amyloidogenic or non-amyloidogenic role. J Neurol Sci Sep 15;284(1-2): : Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet May;84(5): : Corti S, Donadoni C, Ronchi D, Bordoni A, Fortunato F, Santoro D, Del Bo R, Lucchini V, Crugnola V, Papadimitriou D, Salani S, Moggio M, Bresolin N, Comi GP. Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction. J Neurol Sci Jan 15;276(1-2): Epub 2008 Nov 8. PubMed PMID: Fumagalli M, Cagliani R, Pozzoli U, Riva S, Comi GP, Menozzi G, Bresolin N, Sironi M. Widespread balancing selection and pathogen-driven selection at blood group antigen genes. Genome Res Feb;19(2): Locatelli F, Bersano A, Ballabio E, Lanfranconi S, Papadimitriou D, Strazzer S, Bresolin N, Comi GP, Corti S. Stem cell therapy in stroke. Cell Mol Life Sci Mar;66(5): Ghezzi S, Del Bo R, Scarlato M, Nardini M, Carlesi C, Prelle A, Corti S, Mancuso M, Briani C, Siciliano G, Murri L, Bresolin N, Comi GP. Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis? Neurobiol Aging May;30(5): Epub 2007 Sep 20. PubMed PMID: Bersano A, Del Bo R, Lamperti C, Ghezzi S, Fagiolari G, Fortunato F, Ballabio E, Moggio M, Candelise L, Galimberti D, Virgilio R, Lanfranconi S, Torrente Y, Carpo M, Bresolin N, Comi GP, Corti S. Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. Neurobiol Aging May;30(5): Epub 2007 Sep 24. PubMed PMID: Mazzone ES, Messina S, Vasco G, Main M, Eagle M, D'Amico A, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Magri F, Corlatti A, Zucchini E, Brancalion B, Rossi F, Ferretti M, Motta MG, Cecio MR, Berardinelli A, Alfieri P, Mongini T, Pini A, Astrea G, Battini R, Comi G, Pegoraro E, Morandi L, Pane M, Angelini C, Bruno C, Villanova M, Vita G, Donati MA, Bertini E, Mercuri E. Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord Jul;19(7): Epub 2009 Jun 23. PubMed PMID: Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Del Bo R, Papadimitriou D, Locatelli F, Mezzina N, Gianni F, Bresolin N, Comi GP. Motoneuron Pag. 111 di

41 transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1). J Neurosci Sep 23;29(38): Lambrechts D, Poesen K, Fernández-Santiago R, Al-Chalabi A, Del Bo R, Van Vught PW, Khan S, Marklund SL, Brockington A, van Marion I, Anneser J, Shaw C, Ludolph AC, Leigh NP, Comi GP, Gasser T, Shaw PJ, Morrison KE, Andersen PM, Van den Berg LH, Thijs V, Siddique T, Robberecht W, Carmeliet P. Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype. J Med Genet Dec;46(12): Flanigan KM, Dunn DM, von Niederhausern A, Howard MT, Mendell J, Connolly A, Saunders C, Modrcin A, Dasouki M, Comi GP, Del Bo R, Pickart A, Jacobson R, Finkel R, Medne L, Weiss RB. DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Neuromuscul Disord Nov;19(11): Demir E, Gucuyener K, Akturk A, Talim B, Konus O, Del Bo R, Ghezzi S, Comi GP. An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities with mild muscle and brain involvement. Neuromuscul Disord Oct;19(10): Epub 2009 Aug Fumagalli M, Cagliani R, Pozzoli U, Riva S, Comi GP, Menozzi G, Bresolin N, Sironi M. A population genetics study of the Familial Mediterranean Fever gene: evidence of balancing selection under an overdominance regime. Genes Immun Dec;10(8): Epub 2009 Aug Fagiolari G, Cappellini A, Cagliani R, Prelle A, Lucchini V, Fortunato F,Locatelli F, Crugnola V, Comi GP, Bresolin N, Moggio M, Lamperti C. Muscular Dystrophy: Central Nervous System {alpha}-dystroglycan Glycosylation Defects and Brain Malformation. J Child Neurol Mar;25(3): Epub 2009 Jul Del Bo R, Corti S, Santoro D, Ghione I, Fenoglio C, Ghezzi S, Ranieri M, Galimberti D, Mancuso M, Siciliano G, Briani C, Murri L, Scarpini E, Schymick JC, Traynor BJ, Bresolin N, Comi GP. No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort. Neurobiol Aging Jun;32(6): Cagliani R, Fumagalli M, Riva S, Pozzoli U, Fracassetti M, Bresolin N, Comi GP, Sironi M. Polymorphisms in the CPB2 gene are maintained by balancing selection and result in haplotype-preferential splicing of exon 7. Mol Biol Evol Aug;27(8): Epub 2010 Mar 17. PubMed PMID: Crugnola V, Lamperti C, Lucchini V, Ronchi D, Peverelli L, Prelle A, Sciacco M, Bordoni A, Fassone E, Fortunato F, Corti S, Silani V, Bresolin N, Di Mauro S, Comi GP, Moggio M. Mitochondrial respiratory chain dysfunction in muscle from patients with Amyotrophic Lateral Sclerosis. Arch Neurol Jul;67(7): Ronchi D, Virgilio R, Bordoni A, Fassone E, Sciacco M, Ciscato P, Moggio M, Govoni A, Pag. 112 di Corti S, Bresolin N, Comi GP.

42 The m.12316g>a mutation in the mitochondrial trna(leu(cun)) gene is associated with mitochondrial myopathy and respiratory impairment. J Neurol Sci May 15;292(1-2): Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, Sorarù G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet Mar;47(3): Coppedè F, Migheli F, Lo Gerfo A, Fabbrizi MR, Carlesi C, Mancuso M, Corti S, Mezzina N, Del Bo R, Comi GP, Siciliano G, Migliore L. Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2010;11(1-2): Borroni B, Del Bo R, Goldwurm S, Archetti S, Bonvicini C, Agosti C, Bigni B, Papetti A, Ghezzi S, Sacilotto G, Pezzoli G, Gennarelli M, Bresolin N, Comi GP, Padovani A. VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome. J Alzheimers Dis Jan;21(1): Borroni B, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, Agosti C, Cosseddu M, Turla M, Di Lorenzo D, Comi GP, Gennarelli M, Padovani A. TARDBP Mutations in Frontotemporal Lobar Degeneration: Frequency, Clinical Features, and Disease Course. Rejuvenation Res Oct;13(5): Lo Mauro A, D'Angelo MG, Romei M, Motta F, Colombo D, Comi GP, Pedotti A, Marchi E, Turconi AC, Bresolin N, Aliverti A. Abdominal volume contribution to tidal volume as an early indicator of respiratory impairment in Duchenne muscular dystrophy. Eur Respir J May;35(5): Epub 2009 Oct 19. PubMed PMID: Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D, Simone C, Falcone M, Papadimitriou D, Locatelli F, Mezzina N, Gianni F, Bresolin N, Comi GP. Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. Brain Feb;133(Pt 2): Epub 2009 Dec 23. PubMed PMID: Cagliani R, Fumagalli M, Riva S, Pozzoli U, Comi GP, Bresolin N, Sironi M. Genetic variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by balancing selection in human populations. Pharmacogenet Genomics Feb;20(2): PubMed PMID: Pozzoli U, Fumagalli M, Cagliani R, Comi GP, Bresolin N, Clerici M, Sironi M. The role of protozoa-driven selection in shaping human genetic variability. Trends Genet Mar;26(3):95-9. Epub 2010 Jan 25. PubMed PMID: Fumagalli M, Pozzoli U, Cagliani R, Comi GP, Bresolin N, Clerici M, Sironi M. Genomewide identification of susceptibility alleles for viral infections through a population genetics approach. PLoS Genet Feb 19;6(2):e PubMed PMID: ; PubMed Central PMCID: PMC Pag. 113 di

43 217 Fumagalli M, Cagliani R, Riva S, Pozzoli U, Biasin M, Piacentini L, Comi GP, Bresolin N, Clerici M, Sironi M. Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes. Mol Biol Evol Nov;27(11): Epub 2010 Jun 10. PubMed PMID: Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Simone C, Falcone M, Riboldi G, Govoni A, Bresolin N, Comi GP. Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis. Hum Mol Genet Oct 1;19(19): Epub 2010 Jul 22. PubMed PMID: Nizzardo M, Simone C, Falcone M, Locatelli F, Riboldi G, Comi GP, Corti S. Human motor neuron generation from embryonic stem cells and induced pluripotent stem cells. Cell Mol Life Sci Nov;67(22): Epub 2010 Jul 29. Review. PubMed PMID: Fumagalli M, Pozzoli U, Cagliani R, Comi GP, Bresolin N, Clerici M, Sironi M. The landscape of human genes involved in the immune response to parasitic worms. BMC Evol Biol Aug 31;10:264. PubMed PMID: ; PubMed Central PMCID: PMC Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E. Congenital muscular dystrophies with cognitive impairment. A population study. Neurology Sep 7;75(10): PubMed PMID: Borroni B, Grassi M, Archetti S, Papetti A, Del Bo R, Bonvicini C, Comi GP,Gennarelli M, Bellelli G, Di Luca M, Padovani A. Genetic background predicts poor prognosis in frontotemporal lobar degeneration. Neurodegener Dis. 2011;8(5): Orcesi S, La Piana R, Uggetti C, Tonduti D, Pichiecchio A, Pasin M, Viselner G, Comi GP, Del Bo R, Ronchi D, Bastianello S, Balottin U. Spinal cord calcification in an early-onset progressive leukoencephalopathy. J Child Neurol Jul;26(7): Pacelli C, De Rasmo D, Signorile A, Grattagliano I, di Tullio G, D'Orazio A, Nico B, Comi GP, Ronchi D, Ferranini E, Pirolo D, Seibel P, Schubert S, Gaballo A, Villani G, Cocco T. Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's disease. Biochim Biophys Acta Aug;1812(8): Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Ticozzi N, Corti S,Castellotti B, Mazzini L, Sorarù G, Cereda C, D'Alfonso S, Gellera C, Comi GP, Silani V; The SLAGEN Consortium. Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. J Neurol Neurosurg Psychiatry Nov;82(11): Orcesi S, La Piana R, Comi G. Response to correspondence on "spinal cord calcification in an early-onset progressive leukoencephalopathy". J Child Neurol Aug;26(8): Lanfranconi S, Locatelli F, Corti S, Candelise L, Comi GP, Baron PL, Strazzer S, Bresolin N, Bersano A. Growth factors in ischemic stroke. J Cell Mol Med Aug;15(8): Pag. 114 di

44 228 Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L, Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A, Corti S, Bresolin N, Moggio M, Comi GP. New molecular findings in congenital myopathies due to selenoprotein N gene mutations. J Neurol Sci Jan 15;300(1-2): Nizzardo M, Nardini M, Ronchi D, Salani S, Donadoni C, Fortunato F, Colciago G, Falcone M, Simone C, Riboldi G, Govoni A, Bresolin N, Comi GP, Corti S. Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms. Exp Neurol Jun;229(2): Magri F, Del Bo R, D'Angelo MG, Govoni A, Ghezzi S, Gandossini S, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Cereda M, Corti S, Moggio M, Bresolin N, Comi GP. Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing. BMC Med Genet Mar 11;12: Magri F, Govoni A, D'Angelo MG, Del Bo R, Ghezzi S, Sandra G, Turconi AC, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Bonato S, Lamperti C, Coviello D, Torrente Y, Corti S, Moggio M, Bresolin N, Comi GP. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol Sep;258(9): Riboldi G, Del Bo R, Ranieri M, Magri F, Sciacco M, Moggio M, Bresolin N,Corti S, Comi GP. Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation. Case Rep Neurol Feb 23;3(1): D'Angelo MG, Romei M, Lo Mauro A, Marchi E, Gandossini S, Bonato S, Comi GP, Magri F, Turconi AC, Pedotti A, Bresolin N, Aliverti A. Respiratory pattern in an adult population of dystrophic patients. J Neurol Sci Jul 15;306(1-2): Cagliani R, Riva S, Pozzoli U, Fumagalli M, Comi GP, Bresolin N, Clerici M, Sironi M. Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving. BMC Evol Biol Jun 17;11: Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP. Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia. J Neurol Sci Sep 15;308(1-2): Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP. Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459g > A mitochondrial DNA mutation: a case report. BMC Neurol Jul 12;11: Riboldi G, Nizzardo M, Simone C, Falcone M, Bresolin N, Comi GP, Corti S. ALS genetic modifiers that increase survival of SOD1 mice and are suitable for herapeutic development. Prog Neurobiol Oct;95(2): Pag. 115 di

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49 M, Sironi M. Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis. Hum Genet Jan;131(1): doi: /s Epub 2011 Jul 7. PubMed PMID: Sagnelli A, Savoiardo M, Marchesi C, Morandi L, Mora M, Morbin M, Farina L, Mazzeo A, Toscano A, Pagliarani S, Lucchiari S, Comi GP, Salsano E, Pareyson D. Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. Neuromuscul Disord Mar;24(3): doi: /j.nmd Epub 2013 Nov 19. PubMed PMID: Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. The m.3243a>g mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol Mar;261(3): doi: /s Epub 2013 Dec 29. PubMed PMID: Zanetta C, Nizzardo M, Simone C, Monguzzi E, Bresolin N, Comi GP, Corti S. Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials. Clin Ther Jan 1;36(1): doi: /j.clinthera Epub 2013 Dec 17. PubMed PMID: Lucchiari S, Ulzi G, Magri F, Bucchia M, Corbetta F, Servida M, Moggio M, Comi GP, Lecchi M. Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient. J Physiol Pharmacol Oct;64(5): PubMed PMID: Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators; ITALSGEN Consortium. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet Apr 15;23(8): doi: /hmg/ddt587. Epub 2013 Nov 20. PubMed PMID: ; PubMed Central PMCID: PMC Ruggieri M, Riboldi G, Brajkovic S, Bucchia M, Bresolin N, Comi GP, Corti S. Induced neural stem cells: methods of reprogramming and potential therapeutic applications. Prog Neurobiol Mar;114: doi: /j.pneurobio Epub 2013 Nov 15. Review. PubMed PMID: Mazzone ES, Pane M, Sormani MP, Scalise R, Berardinelli A, Messina S, Torrente Y, D'Amico A, Doglio L, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Bianco F, Magri F, Rossi F, Vasco G, Vita G, Motta MC, Donati MA, Sacchini M, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Pag. 120 di Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E. Correction: 24 Month

50 Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy. PLoS One Nov 11;8(11). doi: /annotation/cbe611fe-cda9-4d ac18e109daa. ecollection PubMed PMID: ; PubMed Central PMCID: PMC Brajkovic S, Riboldi G, Govoni A, Corti S, Bresolin N, Comi GP. Growing Evidence about the Relationship between Vessel Dissection and Scuba Diving. Case Rep Neurol Sep 12;5(3): doi: / ecollection PubMed PMID: ; PubMed Central PMCID: PMC Remiche G, Ronchi D, Magri F, Lamperti C, Bordoni A, Moggio M, Bresolin N, Comi GP. Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature. J Neurol Jan;261(1): doi: /s Epub 2013 Oct 25. PubMed PMID: Liguori R, Giannoccaro MP, Pasini E, Riguzzi P, Valentino ML, Comi GP, Carelli V, Bresolin N, Michelucci R. Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. J Neurol Oct;260(10): doi: /s z. Epub 2013 Sep 20. PubMed PMID: Nizzardo M, Simone C, Rizzo F, Ruggieri M, Salani S, Riboldi G, Faravelli I, Zanetta C, Bresolin N, Comi GP, Corti S. Minimally invasive transplantation of ipsc-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model. Hum Mol Genet Jan 15;23(2): doi: /hmg/ddt425. Epub 2013 Sep 4. PubMed PMID: ; PubMed Central PMCID: PMC Remiche G, Ronchi D, Lamperti C, Bordoni A, Magri F, Moggio M, Comi GP. Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association? Eur Neurol. 2013;70(1-2): doi: / Epub 2013 Jul 9. PubMed PMID: Calini D, Corrado L, Del Bo R, Gagliardi S, Pensato V, Verde F, Corti S, Mazzini L, Milani P, Castellotti B, Bertolin C, Sorarù G, Cereda C, Comi GP, D'Alfonso S, Gellera C, Ticozzi N, Landers JE, Ratti A, Silani V; SLAGEN Consortium. Analysis of hnrnpa1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis. Neurobiol Aging Nov;34(11):2695.e11-2. doi: /j.neurobiolaging Epub 2013 Jul 2. PubMed PMID: Ranieri M, Brajkovic S, Riboldi G, Ronchi D, Rizzo F, Bresolin N, Corti S, Comi GP. Mitochondrial fusion proteins and human diseases. Neurol Res Int. 2013;2013: doi: /2013/ Epub 2013 May 27. PubMed PMID: ; PubMed Central PMCID: PMC Govoni A, Magri F, Brajkovic S, Zanetta C, Faravelli I, Corti S, Bresolin N, Comi GP. Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy. Cell Mol Life Sci Dec;70(23): doi: /s z. Epub 2013 Jun 18. Review. PubMed PMID: Pag. 121 di

51 291. Forni D, Cagliani R, Pozzoli U, Colleoni M, Riva S, Biasin M, Filippi G, De Gioia L, Gnudi F, Comi GP, Bresolin N, Clerici M, Sironi M. A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles. Immunity Jun 27;38(6): doi: /j.immuni Epub 2013 May 23. PubMed PMID: Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Phenotypic heterogeneity of the 8344A>G mtdna "MERRF" mutation. Neurology May 28;80(22): doi: /WNL.0b013e318294b44c. Epub 2013 May 1. PubMed PMID: Remiche G, Lo Mauro A, Tarsia P, Ronchi D, Bordoni A, Magri F, Comi GP, Aliverti A, D'Angelo MG. Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients. Respir Physiol Neurobiol May 1;186(3): doi: /j.resp Epub 2013 Mar 15. PubMed PMID: Galimberti D, Fenoglio C, Serpente M, Villa C, Bonsi R, Arighi A, Fumagalli GG, Del Bo R, Bruni AC, Anfossi M, Clodomiro A, Cupidi C, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Bessi V, Marcone A, Cerami C, Cappa SF, Filippi M, Agosta F, Magnani G, Comi G, Franceschi M, Rainero I, Giordana MT, Rubino E, Ferrero P, Rogaeva E, Xi Z, Confaloni A, Piscopo P, Bruno G, Talarico G, Cagnin A, Clerici F, Dell'Osso B, Comi GP, Altamura AC, Mariani C, Scarpini E. Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation. Biol Psychiatry Sep 1;74(5): doi: /j.biopsych Epub 2013 Mar 7. PubMed PMID: Cagliani R, Guerini FR, Rubio-Acero R, Baglio F, Forni D, Agliardi C, Griffanti L, Fumagalli M, Pozzoli U, Riva S, Calabrese E, Sikora M, Casals F, Comi GP, Bresolin N, Cáceres M, Clerici M, Sironi M. Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease. Hum Mutat May;34(5): doi: /humu Epub 2013 Apr 2. PubMed PMID: Cagliani R, Pozzoli U, Forni D, Cassinotti A, Fumagalli M, Giani M, Fichera M, Lombardini M, Ardizzone S, Asselta R, de Franchis R, Riva S, Biasin M, Comi GP, Bresolin N, Clerici M, Sironi M. Crohn's disease loci are common targets of protozoa-driven selection. Mol Biol Evol May;30(5): doi: /molbev/mst020. Epub 2013 Feb 6. PubMed PMID: Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferrò MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP. Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. Am J Hum Genet Feb 7;92(2): doi: /j.ajhg Epub 2013 Jan 24. PubMed PMID: ; PubMed Central PMCID: PMC Cheldi A, Ronchi D, Bordoni A, Bordo B, Lanfranconi S, Bellotti MG, Corti S, Lucchini V, Sciacco M, Moggio M, Baron P, Comi GP, Colombo A, Bersano A; Lombardia GENS Pag. 122 di

52 collaborators. POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome. BMC Neurol Jan 15;13:8. doi: / PubMed PMID: ; PubMed Central PMCID: PMC Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Loss-of-function mutations in MGME1 impair mtdna replication and cause multisystemic mitochondrial disease. Nat Genet Feb;45(2): doi: /ng Epub 2013 Jan 13. PubMed PMID: ; PubMed Central PMCID: PMC Dilena R, Abicht A, Sergi P, Comi GP, Di Fonzo A, Chidini G, Natacci F, Barbieri S, Lochmüller H. Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis. J Child Neurol Mar;29(3): doi: / Epub 2013 Jan 4. PubMed PMID: Ciccolella M, Corti S, Catteruccia M, Petrini S, Tozzi G, Rizza T, Carrozzo R, Nizzardo M, Bordoni A, Ronchi D, D'Amico A, Rizzo C, Comi GP, Bertini E. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. J Med Genet Feb;50(2): doi: /jmedgenet Epub 2012 Dec 14. PubMed PMID: Nizzardo M, Simone C, Falcone M, Riboldi G, Comi GP, Bresolin N, Corti S. Direct reprogramming of adult somatic cells into other lineages: past evidence and future perspectives. Cell Transplant. 2013;22(6): doi: / X Epub 2012 Oct 3. Review. PubMed PMID: Ulzi G, Sansone VA, Magri F, Corti S, Bresolin N, Comi GP, Lucchiari S. In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay. Mol Biol Rep May;41(5): doi: /s Epub 2014 Jan 23. PubMed PMID: Pane M, Mazzone ES, Sormani MP, Messina S, Vita GL, Fanelli L, Berardinelli A, Torrente Y, D'Amico A, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Bianco F, Van der Haawue M, Magri F, Palermo C, Rossi F, Donati MA, Alfonsi C, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Morandi L, Gualandi F, Ferlini A, Goemans N, Mercuri E. 6 minute walk test in Duchenne MD patients with different mutations: 12 month changes. PLoS One Jan 8;9(1):e doi: /journal.pone ecollection PubMed PMID: ; PubMed Central PMCID: PMC Zanetta C, Riboldi G, Nizzardo M, Simone C, Faravelli I, Bresolin N, Comi GP, Corti S. Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). J Cell Mol Med Feb;18(2): doi: /jcmm Epub 2014 Jan 8. Review. PubMed PMID: Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Pag. 123 di Zheng L, Filosto M, Ferrò MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S,

53 Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP. Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. Am J Hum Genet Feb 7;92(2): doi: /j.ajhg Epub 2013 Jan 24. PubMed PMID: ; PubMed Central PMCID: PMC Faravelli I, Riboldi G, Nizzardo M, Simone C, Zanetta C, Bresolin N, Comi GP, Corti S. Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation. Cell Mol Life Sci Apr 4. [Epub ahead of print] PubMed PMID: Forni D, Cagliani R, Tresoldi C, Pozzoli U, De Gioia L, Filippi G, Riva S, Menozzi G, Colleoni M, Biasin M, Lo Caputo S, Mazzotta F, Comi GP, Bresolin N, Clerici M, Sironi M. An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection. PLoS Genet Mar 27;10(3):e doi: /journal.pgen ecollection 2014 Mar. PubMed PMID: ; PubMed Central PMCID: PMC Nizzardo M, Simone C, Salani S, Ruepp MD, Rizzo F, Ruggieri M, Zanetta C, Brajkovic S, Moulton HM, Müehlemann O, Bresolin N, Comi GP, Corti S. Effect of combined systemic and local morpholino treatment on the spinal muscular atrophy Δ7 mouse model phenotype. Clin Ther Mar 1;36(3): e5. doi: /j.clinthera PubMed PMID: Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G. Myoclonus in mitochondrial disorders. Mov Disord May;29(6): doi: /mds Epub 2014 Feb 7. PubMed PMID: Protti A, Fortunato F, Caspani ML, Pluderi M, Lucchini V, Grimoldi N, Solimeno LP, Fagiolari G, Ciscato P, Zella SM, Moggio M, Comi GP, Gattinoni L. Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock. PLoS One May 1;9(5):e doi: /journal.pone ecollection PubMed PMID: ; PubMed Central PMCID: PMC Guerini FR, Clerici M, Cagliani R, Malhotra S, Montalban X, Forni D, Agliardi C, Riva S, Caputo D, Galimberti D, Asselta R, Fenoglio C, Scarpini E, Comi GP, Bresolin N, Comabella M, Sironi M. No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis. J Neuroimmunol Jun 15;271(1-2): doi: /j.jneuroim Epub 2014 Apr 16. PubMed PMID: McDonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E, Glanzman AM; PTC124-GD-007-DMD Study Group, Spiegel R, Barth J, Elfring G, Reha A, Peltz S. The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve Sep;48(3): doi: /mus Epub 2013 Jun 26. PubMed PMID: ; PubMed Central PMCID: PMC McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman Pag. 124 di AM; PTC124-GD-007-DMD Study Group, Spiegel R, Barth J, Elfring G, Reha A, Peltz

54 SW. The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle Nerve Sep;48(3): doi: /mus Epub 2013 Jul 17. PubMed PMID: ; PubMed Central PMCID: PMC Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E, Comi GP. Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. Neurology Jun 3;82(22): doi: /WNL Epub 2014 May 7. PubMed PMID: Riboldi G, Zanetta C, Ranieri M, Nizzardo M, Simone C, Magri F, Bresolin N, Comi GP, Corti S. Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases. Mol Neurobiol May Simone C, Nizzardo C, Rizzo F, Ruggieri M, Riboldi G, Salani S, Bucchia M, Bresolin N, Comi GP, Corti S ipsc-derived Neural Stem Cells Act via Kinase Inhibition to Exert Neuroprotective Effects in Spinal Muscular Atrophy with Respiratory Distress Type 1, tem Cell Reports Aug 12;3(2): doi: /j.stemcr Epub 2014 Jul 4. PubMed PMID: ; PubMed Central PMCID: PMC Pagliarani S, Lucchiari S, Ulzi G, Violano R, Ripolone M, Bordoni A, Nizzardo M, Gatti S, Corti S, Moggio M, Bresolin N, Comi GP. Glycogen storage disease type III: A novel Agl knockout mouse model. Biochim Biophys Acta. 2014Nov;1842(11): doi: /j.bbadis Epub 2014 Aug 1. PubMed PMID: Lanfranconi S, Ronchi D, Ahmed N, Civelli V, Basilico P, Bresolin N, Comi GP, Corti S. A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations. BMC Neurol Aug 3;14(1):158. doi: /s PubMed PMID: Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, DayJW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve Oct;50(4): doi: /mus PubMed PMID: Pane M, Mazzone ES, Sivo S, Sormani MP, Messina S, D Amico A, Carlesi A, Vita G, Fanelli L, Berardinelli A, Torrente Y, Lanzillotta V, Viggiano E, D Ambrosio P, Cavallaro F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F, Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E. Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36- month changes. PLoS One Oct 1;9(10):e doi: /journal.pone ecollection PubMed PMID: ; PubMed Central PMCID: PMC Pag. 125 di

55 Lavori pubblicati come Abstracts a congressi internazionali: 1. Bet L., Bresolin N., Binda A., Nador F., Ferrante C., Comi G., Scarlato G. Cardiac Improvement after Coenzyme Q10 treatment in patients with Kearns-Sayre Syndrome. 39th Annual Meeting of the American Academy of Neurology, New York, NY, USA, April 5-11, Neurology, Vol 37, 3, Suppl. 1, Bresolin N., Bet L., Moggio M., Meola G., Spreafico C., Fiorelli C., Comi G., Scarlato G. A New Cause for Myoglobinuria: Human Muscle Glucose-6-Phosphate Dehydrogenase Deficiency. 40th Annual Meeting of the American Academy of Neurology, Cincinnati, OH, USA, April 17-23, Neurology, Vol. 38, 3, Suppl. 1, Comi G., Bresolin N., Bet L., Bossoni G., Ratti E., Girelli M., Scarlato G. Brain Areas' Metabolism in Aging and Microencephalic Rats. 40th Annual Meeting of the American Academy of Neurology, Cincinnati, OH, USA, April 17-23, Neurology, Vol. 38, 3, Suppl. 1, Comi G., Miletich R.S., Finn R., Adams R., Francis B., Bankiewicz K., Di Chiro G. 6-( 18 F)Fluoro-L-Dopa peripheral metabolism in rhesus monkeys. 41th Annual Meeting of the American Academy of Neurology, Chicago, IL, USA, April Neurology, Vol. 39, 3, Suppl. 1, Miletich R.S., Bankiewicz K., Plunkett R., Comi G., Finn R., Kopin I.J., Di Chiro G. 6-( 18 F)Fluoro-L-Dopa PET imaging of catecholaminergic fiber sprouting. XIV International Symposium on Cerebral Blood Flow and Metabolism, Bologna, May 28-June 1, Journal of Cerebral Blood Flow and Metabolism 6. Comi G., Miletich R.S., Finn R., Adams R., Francis B., Bankiewicz K., Di Chiro G. 6-( 18 F)Fluoro-L-Dopa peripheral metabolism in humans and monkeys. XIV International Symposium on Cerebral Blood Flow and Metabolism, Bologna, May 28-June 1, Journal of Cerebral Blood Flow and Metabolism 7. Comi G., Miletich R.S., Kopin I., Bankiewicz K., Plunkett R., Adams R., Dunn B., Di Chiro G. Metabolism and PET imaging of 6-( 18 F)Fluoro-L-Dopa after catechol-o-methyl transferase inhibition in normal and hemiparkinsonian monkeys. 42nd Annual Meeting of the American Academy of Neurology, Miami Beach, FL, USA, April 30-May 6, Neurology, 39, 3, Suppl. 1, Pag. 126 di

56 8. Bresolin N., Fortunato F., Meola G., Prelle A., Ninfali P., Ciafaloni E., Comi G., Scarlato G. Muscle Galactose-1-Phosphate Uridyl Transferase deficiency. 42nd Annual Meeting of the American Academy of Neurology, Miami Beach, FL, USA, April 30-May 6, Neurology, 39, 3, Suppl. 1, Bado M., Bresolin N., Cordone G., Fortunato F., Comi G., Castelli E., Gallanti A., Scarlato G. Myoglobinuria in a female patient with muscle G6PD deficiency. 42nd Annual Meeting of the American Academy of Neurology, Miami Beach, FL, USA, April 30-May 6, Neurology, 39, 3, Suppl. 1, Bresolin N., Fortunato F., Meola G., Comi G., A.Prelle, Scarlato G., Ninfali P. A new myopathy: Galactose 1-P uridyl transferase deficiency. II meeting of the European Neurological Society. 20 June-5 July 1990 Brighton, U.K. Journal of Neurology, 277 (S1), pg.101, N. Bresolin, G. Comi, F. Fortunato, G. Meola, A. Gallanti, G. Scarlato. Galactose-1-Phosphate Uridyl transferase Muscle deficiency: the first report. VII International Congress on Neuromuscular Diseases. Munich, FRG September Journal of the Neurological Sciences, 98 (Suppl. 1), pg 245, E.Castelli, N.Bresolin, A.C.Turconi, G. Comi, R.Garghentino, D. Gallotti, P. Fraschini, G.Moretti. Mental impairment in Duchenne Muscular Dystrophy (DMD): Xp21 Locus Gene Mutation or nonspecific X-Linked Mental Retardation? American Academy of Neurology. 44th Annual meeting. San Diego, California USA. May Neurology, 41 (S1), pg. 227, A. Prelle, G. Fagiolari, A. Bordoni, A. Battistel, N. Checcarelli, G.P. Comi, M. Moggio, G. Scarlato. Expression of deleted mtdna in muscle fibers of patient with mitochondrial myopathy. American Academy of Neurology. 44th Annual meeting San Diego, California USA. May 3-9, Neurology, 41 (S1), pg. 287, N. Bresolin, G. Comi, F. Mazzucchelli, A. Fassati, E. Calabrese, G. Meola. Ageing and Alzheimer's disease: mitochondrial DNA deletions and peripheral markers. International Society for Developmental Neuroscience. La Grande Motte, France, June 14-18, International Journal of Developmental Neuroscience. Program and Abstracts, pg. 39. Pag. 127 di

57 15. N. Bresolin, G.P. Comi, E.Castelli, D.Perani, A.Turconi, A. Papadimitriou, R. Garghentino, G. Scarlato. Multidisciplinary investigation in Duchenne muscle dystrophy: first step towards therapy. Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne, Switzerland. Journal of Neurology, 239 (Suppl. 2), 29, Turconi A.C., Fraschini P. Garghentino R., Negretto G. Castelli E., Comi G., Gallanti A., Bresolin N. Survey on physioterapic effectivness in 50 DMD patients. Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne, Switzerland. Journal of Neurology, 239 (Suppl. 2), 29, E.Castelli, N.Bresolin, A.Turconi, G. Comi, G. Moretti. Neuropsychological defects in DMD patients: brain dystrophyn deficiency or non specific X-linked mental retardation? Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne, Switzerland. Journal of Neurology, 239 (Suppl. 2), 29, Adobbati L., Comi G., Jann S., Beretta S., Moggio M., Pellegrini G. Dystrophin analysis in a BMD manifesting carrier. Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne, Switzerland. Journal of Neurology, 239 (Suppl. 2), 29, Gallanti A., G.P. Comi, P.Ciscato, A.Comini, N. Bresolin, M. Moggio, G. Scarlato. Dystrophin and desmin muscle storage in a congenital myopathy. Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne, Switzerland. Journal of Neurology, 239 (Suppl. 2), 84, F. Mazzucchelli, N. Bresolin, G. Felisari, A. Bardoni, G.P. Comi, G. Meola, P. Ninfali, M.G. Piscaglia, G.Scarlato. Clinical and biochemical survey on muscle involvement in G6PD deficiency. Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne, Switzerland. Journal of Neurology, 239 (Suppl. 2), 84-85, G.P. Comi, A. Gallanti, N. Bresolin, A. Papadimitriou et al. Clinical variability in BMD patients: genetic, biochemical and immunohistochemical correlates. Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne, Switzerland. Journal of Neurology, 239 (Suppl. 2), 99, Toscano A., Vita G., Bordoni A., Fazio M.C., Comi G.P., Bresolin N., Zeviani M.,Messina C. Pag. 128 di

58 Kearns-Sayre Syndrome following Pearson's Syndrome neonal features: clinical, biochemical and genetic study. Euromit. 2nd International Congress on Human Mitochondrial Pathology. Rome, September 21-23, Programme Abstracts, p 54, Bresolin, A. Bardoni, G.P. Comi, Scarlato G. From the genes to the clinical phenotypes in the mitochondrial encephalomyopathies. Molecular bases of Human diseases. International meeting Milan, September 27-October 1, pg , E. Castelli, A. Turconi, P. Fraschini, R. Garghentino, N. Bresolin, G. Comi, M. Moggio, G. Moretti. Mental retardation in DMD: genetic analysis and clinical correlations in 50 patients. Molecular bases of Human diseases. International meeting Milan, September 27-October 1, pg 188, G.P. Comi, N. Bresolin, A. Bardoni, E. Castelli G. Scarlato Duchenne Muscular Dystrophy brain promoter deletion not associated with mental retardation. Molecular bases of Human diseases. International meeting Milan, September 27-October 1, pg. 191, E.F. Gonano, I. Moroni, G.P. Comi, A. Bordoni, V. Tegazzin, N. Bresolin, G. Scarlato. Malignant hyperthermia susceptibility: genetic analysis and caffeine-halotane contracture test. Molecular bases of Human diseases. International meeting Milan, September 27-October 1, pg. 205, G.P. Comi, N. Bresolin, A. Bardoni, E. Castelli, A. Bordoni, T. Ottolini, A. Prelle, G. Scarlato. Absence of mental retardation in a DMD gene deltion involving brain dystrophin promoter. The American Society of Human Genetics. 42nd Annual Meeting, San Francisco, California. November 9-13, The American Journal of Human Genetics, 51, 4, A93., G.P. Comi, N. Bresolin, A. Bardoni, E. Castelli, A. Prelle, F. Fortunato, G. Scarlato. Absence of mental retardation in a large DMD gene deletion involving brain dystrophin promoter. 45th Annual Meeting American Academy of Neurology, New York, April 25-May 1, Neurology, 43, 4, Suppplement, pg. A313, I Moroni, EF Gonano, N Bresolin, GP Comi, A Prelle, G Scarlato. Clinical polymorphism in Malignant Hyperthermia susceptibility. EMHG Annual Meeting, Abano Terme (PD), May A. Papadimitriou, G.M. Hadjigeorgiou, G. Comi, B. Aliberti, E. Kerezoudi, E. Alexiou, N. Bresolin. Pag. 129 di

59 Multiple deletions of muscle mt DNA in a patient with Parkinson's disease (P.D.) and sensory neuropathy. XVth World Congress of Neurology, Vancouver, September 5-10, The Canadian Journal of Neurological Sciences, Vol. 20, Supplement 4, pg. S N. Bresolin, G.P. Comi, A. Fassati. A. Bordoni, P. Amboni, L. Amaducci, S. Sorbi, G. Scarlato. Quantitation of deleted mitochondrial DNA (mtdna) in brain tissue sample of Alzheimer disease patients by competitive P.C.R. XVth World Congress of Neurology, Vancouver, September 5-10, The Canadian Journal of Neurological Sciences,Vol. 20, Supplement 4, pg. S Bresolin N., Comi G.P., Mazzucchelli F., Ramacci M.T., Conti R., Velicogna M, Fonzi N., Amboni P., D'Angelo MG, Rapuzzi S., Scarlato G. AZT effects on human muscle cells and in animal model. XVth World Congress of Neurology, Vancouver, September 5-10, The Canadian Journal of Neurological Sciences, Vol. 20, Supplement 4, pg. S159, I Moroni, EF Gonano, V Tegazzin, GP Comi, A Bordoni, N Bresolin, G Scarlato. Detection for a C1840->T point mutation in the RYR gene in Malignant Hyperthermia (MH) susceptible individuals. XVth World Congress of Neurology, Vancouver, September 5-10, The Canadian Journal of Neurological Sciences, Vol. 20, Supplement 4, pg. S224, Castelli E., Bresolin N., Comi G., Turconi C., Garghentino R., Moggio M., Moretti G.. Neuropsychological impairment of Duchenne Muscular dystrophy (DMD) carriers and their affected sons: a positive correlation. XVth World Congress of Neurology, Vancouver, September 5-10, The Canadian Journal of Neurological Sciences, Vol. 20, S 4, pg. S225, Ciafaloni E., Comi G. P., Bresolin N., Bardoni A., DeSilva R., Garghentino R., Felisari G., Robotti M., Prelle A., Roses A., Scarlato G. Aberrant transcript in the terminal Region of Dystrophin Gene in a congenital Myopathy Patient. 46th Annual Meeting American Academy of Neurology. Washington May 1-7, Neurology, Vol.44 Number 4, Supplement. pg.a230, Bardoni A., Ciafaloni E., Comi G.P., Bresolin N., Robotti M., Moggio M. Rigoletto, C. Roses A., Scarlato G. Restoration of dystrophin mrna reading frame in a patient with Becker-Duchenne Dystrophy (BMD) with out of frame deletion. Fourth Meeting of the European Neurological Society June 1994, Barcelona, Spain. Journal of Neurology, 241, S52, E.Castelli, A.Turconi, N.Bresolin, D Perani, G.Comi Pag. 130 di

60 The cerebellar contribution to higher function in Duchenne Muscular Dystrophy (DMD). Fourth Meeting of the European Neurological Society June 1994, Barcelona, Spain. Journal of Neurology, 241, S52, F. Mazzucchelli, N. Bresolin, MG D'Angelo, L.Bet, GP Comi "In vitro" effects of AZT on mitochondrial DNA. Fourth Meeting of the European Neurological Society June 1994, Barcelona, Spain. Journal of Neurology, 241, S54, I. Moroni, F. Gonano, G.P. Comi, N.Bresolin, G.Scarlato Screening for new mutations of ryanodine receptor gene in central core disease and malignant hyperthermia. Fourth Meeting of the European Neurological Society June 1994, Barcelona, Spain. Journal of Neurology, 241, S54, Rapuzzi S., Prelle A., Moggio M., Comi G., Fagiolari G., Ciscato P., Messina A., Battistel A., Bazzi P., Scarlato G. High blood levels of creatin-kinase (CK) associated with cylindrical spirals in muscle specimen. Fourth Meeting of the European Neurological Society June 1994, Barcelona, Spain. Journal of Neurology, 241, S54, A.Turconi, E.Castelli, N.Bresolin, G.Comi, G.Felisari Clinical Features and Neuropsychological Functions in Duchenne Muscular Dystrophy carriers and their affected sons. Fourth Meeting of the European Neurological Society June 1994, Barcelona, Spain. Journal of Neurology, 241, S55, A. Papadimitriou, R. Divari, G.Comi, I. Anastasopulos, N. Bresolin Multiple Deletions of mtdna in autosomal dominant inheritance and sporadic cases of mitochondrial encephalomyopathy. Fourth Meeting of the European Neurological Society June 1994, Barcelona, Spain. Journal of Neurology, 241, S55, Prelle A., Rigoletto C., Ciscato P., Moggio M., Messina S., Comi G., Scarlato G. Utrophin expression during human fetal development. Fourth Meeting of the European Neurological Society June 1994, Barcelona, Spain. Journal of Neurology, 241, S55, G.P. Comi, E.Ciafaloni, A.Bardoni, N.Bresolin, A.Prelle, A.Roses, G.Scarlato Congenital Myopathy with dystrophin deficiency, aberrant mrna spliced forms and absence of Dp 116. Pag. 131 di

61 Fourth Meeting of the European Neurological Society June 1994, Barcelona, Spain. Journal of Neurology, 241, S96, F.Mazzucchelli, N.Bresolin, MG D'Angelo, G.P. Comi, C.Ausenda Mitochondrial DNA content decrease and cellular replication capability: relationship to zidovudine treatment; an "in vitro" study. Jahrestagung der Deutschen Gesellschaft fr Neuropathologie und Neuroanatomie. Joint Meeting with the Italian Society of Neuropathology. Munchen 5-8 Oktober Comi G.P., Ciafaloni E., Prelle A., Bardoni A., De Silva R., Robotti M., Bresolin N., Scarlato G. Point mutation at the 5' splice site of dystrophin gene exon 69 with multiple aberrant mrnas in a severe DMD patient. First European Federation of Neurological Societies Meeting on Muscle Disorders. Athens, Greece, 31 October-1 November Bresolin N., Ausenda C.D., De Liso A., Gallanti A., Torrente Y., Del Bo R., Comi G.P., Scarlato G. The biolistic technique in control and mdx dystrophic mice. 47th Annual Meeting of the American Academy of Neurology, Seattle, WA, USA, May 6-13, Neurology, 45, S795, Ausenda C.D., D'AngeloM.G., Bordoni A., Perini M.P., Comi G.P., Mazzucchelli F., Bresolin N., Scarlato G. Towards the delopment of a MyoD approach for gene therapy of muscular therapy. 47th Annual Meeting of the American Academy of Neurology, Seattle, WA, USA, May 6-13, Neurology, 45, S795, Bardoni A., Comi G.P. Ciafaloni E., Robotti M., Del Bo R., Moggio M., Rigoletto C., Bresolin N., Scarlato G. Somatic mosaicism of a second site mutatio at the 5' splice site of exon 53 as reversion mechanism in a BMD patient with out-of-frame deletion Fifth Meeting of the European Neurological Society Munich, Germany, June 1995 Journal of Neurology, 242, 6 (S2), 35, Ausenda C., D'Angelo M.G., Gallanti A., Del Bo R., Comi G.P., Bresolin N., Scarlato G. MyoD activation of physiologic promoters as a potential approach to myoblast mediated gene transfer. Fifth Meeting of the European Neurological Society Munich, Germany, June 1995 Journal of Neurology, 242, 6 (S2), 36, Del Bo R., Bresolin N., Castelli E., Ausenda C., Bordoni A., Comi G.P., Turconi A.C. Clinical application of apolipoprotein E genotyping to Down's syndrome. Pag. 132 di

62 Fifth Meeting of the European Neurological Society Munich, Germany, June 1995 Journal of Neurology, 242, 6 (S2), 57, Mazzucchelli F., Ausenda C., Del Bo R., D'Angelo M., Comi G., Bordoni A., Bresolin N., Scarlato G. AZT treatment does not affect mitochondrial DNA (mtdna) quantity but it affects the transcription and the translation of mtdna in fetal rat neuronal cell cultures. Fifth Meeting of the European Neurological Society Munich, Germany, June 1995 Journal of Neurology, 242, 6 (S2), 47, Comi G.P. Mariani G., Isimbaldi G., Torrente Y., Mazzucchelli F., Assi A., Secchi P., Perrone P., Bresolin N., Scarlato G. Familial multiple symmetric lipomatosis without myoclonus epilepsy as the predominant manifestation of the trna Lys A->G(8344) (MERRF) mitochondrial DNA mutation. Fifth Meeting of the European Neurological Society Munich, Germany, June 1995 Journal of Neurology, 242, 612, Comi G.P, Robotti M., Salani S., Ricci C., Rigoletto C., Ausenda C.D., Scarlato G. Non-muscle dystrophin isoforms: proteins in search of a function. Symposium on recent advances in diagnosis and therapy of neuromuscular diseases. Prato, Italy. 21st-14th March, Neuromuscular disorders, Vol 6, 2, S11, Bresolin N., Ausenda C.D., De Liso A., Torrente Y., D'Angelo M.G., Casati R., Benti R., Ciscato P., Moggio M., Comi G.P., Scarlato G. Myoblast mediated gene transfer by intra-arterial injection in mdx mouse. Symposium on recent advances in diagnosis and therapy of neuromuscular diseases, Prato, Italy. 21st-14th March, Neuromuscular disorders, Vol 6, 2, S11, Ausenda C.D., Cattaneo E., D'Angelo MG, Del Bo R., Perini M.P., Torrente Y., Nesti S., Comi G.P., Conti L., Govoni S., Bresolin N., Scarlato G. An efficient transfection method for all kind of cultured neural tissue: the biolistic technique. Symposium on recent advances in diagnosis and therapy of neuromuscular diseases, Prato, Italy. 21st-14th March, Neuromuscular disorders, Vol 6, 2, S11, Ausenda C.d., Cattaneo E., D'Angelo M.G., Del Bo R., Perini M.P., Torrente Y., Nesti S., Conti L., Comi G.P., Govoni S., Bresolin N., Scarlato G. The biolistic technique for gene transferin cultured neural tissue. Sixth Meeting of the European Neurological Society June The Hague, The Netherlands. Journal of Neurology, Suppl. 2, 243, Sciacco M., Comi G.P., Prelle A., Battistel A., Moggio M., A., Toscano A., Pag. 133 di

63 Adobbati L., Rizzi C., Papadimitriou A., Scarlato G. Retrospective study of a large population of patients affected with mitochondrial encephalomyopathy: clinical, morphological, biochemical and molecular genetic evaluation. Sixth Meeting of the European Neurological Society June The Hague, The Netherlands. Journal of Neurology, Suppl. 2, 23, Bresolin N., Ausenda C.D., De Liso A., Torrente Y., D'Angelo M.G:, Casati R., Benti R.., Colombo F.R., Moggio M., Comi G.P. Scarlato G. Intra-arterial injection of myogenic cells in MDX dystrophic mouse Sixth Meeting of the European Neurological Society June The Hague, The Netherlands. Journal of Neurology, Suppl. 2, 243, Comi G.P., Carpo M., Nobile-Orazio E., Rizzi C., Del Bo R., Battistel A. Scarlato G. Proximal myotonic myopathy (PROMM) syndrome without CTG expansion. Sixth Meeting of the European Neurological Society June The Hague, The Netherlands. Journal of Neurology, Suppl. 2, 111, Comi G.P., Rigoletto C., Bresolin N., Prelle A., Bignotti V., Turconi A., Felisari G., Ciscato P., Salani S., Scarlato G. Congenital muscular dystrophy (CMD) with partial merosin deficiency Sixth Meeting of the European Neurological Society June The Hague, The Netherlands. Journal of Neurology, Suppl. 2, 97, Del Bo R., Castelli E., De Giuli A., Comi G., Conti E., Bresolin N. The apoliprotein E 4 allele causes a faster decline of cognitive performances in Down Syndrome patients. Sixth Meeting of the European Neurological Society June The Hague, The Netherlands. Journal of Neurology, Suppl. 2, 36, Bresolin N., Del Bo R., Castelli E., Ausenda C.D., Comi G.P., D'Angelo M.G., Perini M.P., Baldessari S., De Giuli A. Scarlato G., Mitochondrial DNA mutations (trna Gln4336 and ND2 5460) in Down's syndrome. Sixth Meeting of the European Neurological Society June The Hague, The Netherlands. Journal of Neurology, Suppl. 2, 96, D'Angelo M.G., Ausenda C.D., Nesti S., Bordoni A., Del Bo R. Torrente Y., Perini M.P., Corti S., Comi G., Bresolin N., Scralato G. Permanently transformed myogenic cell lines treated with 5-azacytidine show an enhanced expression of the exogenous gene. Sixth Meeting of the European Neurological Society June The Hague, The Netherlands. Journal of Neurology, Suppl. 2, 96, Pag. 134 di

64 64.. Felisari G. Turconi A.C., Bresolin N., Comi G.P., Rigoletto C., Prelle A., Piccininini L., Garghentino R., Scarlato G. Atypical features in a case of congenital muscular dystrophy (CMD) with partial merosin deficiency. First Congress of the World Muscle Society 1997 Neuromuscular Disorders. 65. Torrente Y., Bresolin N., Ausenda C.D., De Liso A., D'Angelo M.G., Casati R., Benti R., Corti S., Comi G., Scarlato G. Extracorporeal circulation as a new experimental approach for myoblast implantation. American Academy of Neurology 49th Annual Meeting, April 12-19, 1997; Boston, USA. Neurology, 48, 3: 442: D'Angelo M.G., Ausenda C.D., Torrente Y., Corti S., Perini M.P., Colucci M., 5'Azacytidine enhances exogenous gene expression in muscle. American Academy of Neurology 49th Annual Meeting, April 12-19, 1997, Boston, USA. Neurology, 48, 3: 442: Ausenda C.D., D'Angelo M.G., Bordoni A., Baldessari S., Del Bo., Comi G.P., Bresolin N., Scarlato G. Tetracycline modulation of MyoD for autologous myoblast mediated gene transfer. American Academy of Neurology 49th Annual Meeting, April 12-19, 1997, Boston, USA. Neurology, 48, 3: 441: Sciacco M., Prelle A., Napoli L., Comi G.P., Bresolin N., Toscano A., Papadimitriou A., Moggio M., Scarlato G. Mitochondrial encephalomyopathies: retrospective study of a population of 220 patients selected according to clinical, morphological and molecular genetic criteria. American Academy of Neurology 49th Annual Meeting, April 12-19, 1997, Boston, USA. Neurology, 48, 3: 353: Epidemiologic survey of a large population of patients with Duchenne Muscular Dystrophy Martinelli F., Felisari G., Turconi A., Comi G.P., Robotti M., Ausenda C.D., Scarlato G., Bresolin N. American Academy of Neurology 49th Annual Meeting, April 12-19, 1997, Boston, USA. Neurology, 48, 3: 297: Prelle A., Tancredi L., Comi G.P., Rigoletto C., Ciscato P., Fortunato F., Felisari G., Moggio M., Scarlato G. Frequency of - and -sarcoglycan deficiency in a large populaion of myopathic patients. American Academy of Neurology 49th Annual Meeting, Boston, USA. Neurology, 48, 3: 297: Pag. 135 di

65 71. Hadjigeorgiou GM, Papadimitriou A, Bordoni A, Franceschina L, Salani S, Comi GP, Bresolin N, Sciacco M, Scarlato G. Search for rare mitochondrila DNA mutations in patients with ragged red fibers in muscle biopsy. 3rd Meeting of the Mediterranean Society of Myology, Cyprus Programme and Abstract Book, 47, Hadjigeorgiou GM, Papadimitriou A, Bordoni A, Franceschina L, Salani S, Comi GP, Bresolin N, Sciacco M, Scarlato G. Depletion of mtdna in adults with MNGIE syndrome. 3rd Meeting of the Mediterranean Society of Myology, Cyprus Programme and Abstract Book, 48, GP Comi, A Bordoni, S Salani, L Franceschina, M Sciacco, N. Bresolin, F Fortunato, M Zeviani, CD Ausenda, L Napoli, M Moggio, J-W Taanman, Guglielmo Scarlato. Out-of-frame heteroplasmic microdeletion of cytochrome c oxidase subunit I gene in a patient with muscle COX deficiency and motor neuron disease Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997 Journal of Neurology, 244, S3: 15, Martinelli F, Felisari G, Turconi A, Comi GP, Robotti M, Ausenda CD, Bresolun N, Scarlato G. Epidemiological analysis of 70 patients affected by Duchenne muscular dystrophy: evaluation of clinical and genetic parameters. Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997 Journal of Neurology, 244, S3: 136, Franceschina L, Salani S, Bordoni A, Comi GP, Sciacco M, Napoli L, Ausenda C, Bresolin N, Scarlato G. Heteroduplex analysis of mitochondrial myopathy patients without identified mutations Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997 Journal of Neurology, 244, S3: 136, Bordoni A, Comi GP, Nesti S, Isimbaldi G, Galli C, Bresolin N, Moggio M, Ausenda CD, Hadjigeorgiou GM, Prelle A, Scarlato G. High level of heteroplasmic mtdna A3243G mutation in brain samples of a patient with myopathy, PEO and ataxia. Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997 Journal of Neurology, 244, S3: , Prelle A, Comi GP, Tancredi L, Rigoletto C, ciscato P, fortunato F, Nesti S, Felisari G, Moggio M, Scarlato G. Clinical-molecular evaluation of a large population of myopathic patients: frequency of sarcoglycanopathies. Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997 Journal of Neurology, 244, S3: 137, Torrente Y, Bresolin N, Ausenda CD, De Liso A, D'Angelo MG, Casati R, Benti S, Corti S, Comi G, Scarlato G. Pag. 136 di

66 Experimental model for gene therapy in Duchenne Muscular Dystrophy: extracorporeal circulation for myoblast implantation. Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997 Journal of Neurology, 244, S3: 137, Baldessari S, Ausenda CD, D'Angelo MG, Sironi M, Ciscato P, Perini MP, Colucci M, Comi GP, Moggio M, Scarlato G. Mitochondrial targeting sequence drivives a reporter protein into mitochondria of muscular tissue. Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997 Journal of Neurology, 244, S3: 137, Ausenda CD, D'Angelo MG, Giorda R, Del Bo R, Perini MP, Bordoni A, Corti S, Comi GP, Bresolin N, Scarlato G. Modulation of myogenesis for the development of autologous transplant of myoblasts. Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997 Journal of Neurology, 244, S3: 137, Bresolin N, Comi G. Genotype-phenotype correlations in mitochondrial encephalomyopathies. International Congress of EEG and Clinical Neurophysiology, Florence, Italy. August 24-29, Electroencephalography and Clinical Neurophysiology, 103, 1: 25; Felisari G, Martinelli F, Turconi A, Comi GP, Lai M, Bardoni A, Salandi A, Bresolin N. Possible pathogenetic role of Apodystrophin Dp140 lack in cognitive impairment of DMD: review of forty-four macrodeleted patients. 50 th Annual Meeting of the American Academy of Neurology. Minneapolis, MN, USA, April 25-May 2, 1998 Neurology, 50, S4, A16, Corti S, D'Angelo MG, Colucci M, Torrente Y, larovere A, Sironi E, Comi GP, Bresolin N, Scarlato G. An in vitro assay to study myoblast transendothelial migration. 50 th Annual Meeting of the American Academy of Neurology. Minneapolis, MN, USA, April 25-May 2, 1998 Neurology, 50, S4, A1283, Torrente Y, D'Angelo MG, Colucci M, Corti S, Baldessari S, Basso V, DeLiso A, Comi GP, Bresolin N, Scarlato G. Myogenic potential of somite-derived cells. 50 th Annual Meeting of the American Academy of Neurology. Minneapolis, MN, USA, April 25-May 2, 1998 Neurology, 50, S4, A1284, Colucci M, Ausenda CD, Torrente Y, DeLiso A, D'Angelo MG, Giorda R, Corti S, Fortunato F, Comi GP, Bresolin N, Scarlato G. Fibroblasts mediated gene transfer to skeletal muscle: in vivo induction of myogenesis by a Tetracycline controlled promoter system. 50 th Annual Meeting of the American Academy of Neurology. Minneapolis, MN, USA, April 25-May 2, 1998 Pag. 137 di

67 Neurology, 50, S4, A325, Bozzali M, Rango M, Prelle A, Comi G, Scarlato G, Bresolin N. Brain activation in patients with mitochondrial disease without central nervous system involvement: a 31 P Magnetic Resonance Spectroscopy study. 50 th Annual Meeting of the American Academy of Neurology. Minneapolis, MN, USA, April 25-May 2, 1998 Neurology, 50, S4, A22, Silani V, Brioschi A, Rango M, Bozzali M, Moggio M, Prelle A, Comi G, Gellera C, Cappellari A, Commola A, Braga M, Pellegrini G, Checcarelli N, Scarlato G. A sporadic case of amyotrophic lateral sclerosis-parkinsonism. 8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998 Journal of Neurology, 245, 346, Sciacco M, Prelle A, Comi GP, Messina S, Ciscato P, Carpo M, Nobile-Orazio E, Fortunato F, Mora G, Bignotti V, Fagiolari G, Scarlato G, Moggio M. An atypical case of desminopathy with abnormal expression of cyclin-dependent kinases. 8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998 Journal of Neurology, 245, 369, Felisari G, Martinelli F, Turconi AC, Salandi A, Bardoni A, Lai M, Robotti M, Comi GP, Bresolin N. High incidence of mental retardation in Duchenne Muscular Dystrophy patients deleted in the distal domain of the gene: effect of unexpressed Dp140 Apodystrophin? 8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998 Journal of Neurology, 245, 391, Corti S, Bordoni A, Comi GP, Bresolin N, Toscano A, Agennouz M, Tancredi L, Moggio M, Scarlato G. Mutation analysis of carnitine palmytoiltransferase (CPT) II gene in patients with decreased muscle CPT activity. 8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998 Journal of Neurology, 245, 423, Corti S, D'Angelo MG, Colucci M, Torrente Y, Larovere A, Perini MP, Salani S, Sironi M, Comi GP, Bresolin N, Scarlato G. Myoblast transendothelial migration: an in vitro assay. 8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998 Journal of Neurology, 245, 423, D'Angelo MG, Torrente Y, Corti S, Colucci M, Del Bo R, Basso V, Strazzer S, DeLiso A, Comi GP, Bresolin N, Scarlato G Somite-derived cell lines: myogenic potential in myoblast mediated gene therapy of Duchenne Muscular Dystrophy. 8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998 Journal of Neurology, 245, 423, Tancredi L, Prelle A, Battistel A, L, Sciacco M, Comi GP, Ciscato P, Bordoni A, Fortunato F, Colucci M, Fagiolari G, Conti E, Bazzi P, Bresolin N, Scarlato G, Pag. 138 di

68 Moggio M.. Retrospective study of a large patient population. with asymptomatic or paucisymptomatic elevation of serum creatine kinase levels. 8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998 Journal of Neurology, 245, 426, Kaukonen J., Zeviani M., Comi G., Piscaglia M.G., Peltonen L., Soumalainen A. Identification of the third autosomal locus predisposing to multiple deletions of mitochondrial DNA. The American Society of Human Genetics. 48th Annual Meeting, Denver, Colorado. November, The American Journal of Human Genetics, 63, 4, A31, Sironi M., Robotti M., Bardoni A., Felisari G., Comi G. Bresolin N. Expression of brain and Purkinje-cell dystrophin isoforms in 22 patients affected by dystrophinopathies 51 ts Annual Meeting of the American Academy of Neurology. Toronto, Ontario, Canada, April 17-24, 1999 Neurology, 52, S2, A96, Bardoni A., Sironi M., Felisari G., Lai M., Comi G. Bresolin N. Association of mental retardation and deletions including Dp140 regulatory sequences in Duchenne and Becker Muscular Dystrophies 51 ts Annual Meeting of the American Academy of Neurology. Toronto, Ontario, Canada, April 17-24, 1999 Neurology, 52, S2, A95, Tancredi L., Prelle A., Chiveri L., Comi G.P., Battistel A., Sciacco M., Bazzi P., Ciscato P., Fortunato F., Bordoni A., Napoli L., Scarlato G Persistent hyperckemia: findings in a karge population of asymptomatic or paucisymptomatic patients. 51 ts Annual Meeting of the American Academy of Neurology. Toronto, Ontario, Canada, April 17-24, 1999 Neurology, 52, S2, A451, Perini M.P., Napoli L., Bordoni A., Comi G.P., Toscano A., Aguennouz M., sciacco M., Strazzer S., Prelle A., Martinuzzi A., Scarlato G. Intrafamilial variability of infantile mitochondrial DNA depletion Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy Journal of Neurology, 246:167, Sironi M., Bardoni A., Robotti M., Felisari G., Comi G.P., Bresolin N. Up-regulation of dystrophin brain and Purkinje cell isoforms in skeletal muscle of BMD and DMD patients. Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy Journal of Neurology, 246:18, Bardoni A., Sironi M., Felisari G., Lai M., Comi G.P., Bresolin N. Cognitive impairment and deletion of Dp140 regulatory region in dystrophinopathies. Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy Pag. 139 di

69 Journal of Neurology, 246:20, Sciacco M., Napoli L., Prelle A., Comi G., Chiveri L., Fagiolari G., Bordoni A., Scarlato G., Moggio M. Frequency of specificclinical features and laboratory alterations in mitochondrial DNA disorders: a 207 patient survey. Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy Journal of Neurology, 246:20-21, Tiranti V., Galimberti C., Carrara F., Lamantea E., Hoffmann S. Meitinger T., Bertini E., Comi G.P., Uziel G., Zeviani M. Mutations of SURF-1 gene in cytochrome c oxidase deficiency. Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy Journal of Neurology, 246:43-44, Del Bo R., Torrente Y., Corti S., Salani S., D'Angelo M.G., Comi G.P., Bresolin N., Scarlato N. Myogenic conversaaion of NIH 3T3 cells by a tetracycline controlled system in vitro and in vivo studies. Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy Journal of Neurology, 246:140, C.Galimberti, V. Tiranti., G.P. Comi, A. Bordoni, P. Corona, M. Zeviani A second chromosomal locus for Leigh Syndrome associated with cytochrome C oxidase deficiency. Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy Journal of Neurology, 246:162, Perini M.P., Napoli L., Bordoni A., Comi G.P., Toscano A., Agennouz M., Sciacco M., Strazzer S., Prelle A., Martinuzzi A., Scarlato G. Intrafamilial variability in infantile mithocondrial DNA depletion Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy Journal of Neurology, 246:167, G.P. Comi, Lucchiari S., Bordoni A., Shen J, Chen Y.T., Hadjigeorgiou GM, Toscano A., Scarlato G. Mutation analysis of amylo-1,6 glucosidase, 4-alpha-glucanotransferase gene in glycogen storage disease type III A patients. Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy Journal of Neurology, 246:167, Prelle A., Tancredi L., Chiveri L., Comi G.P., Sciacco M., Battistel A., Ciscato P., Bordoni A., Fortunato F., Napoli L., Scarlato G., Moggio M. Persistent hyperckemia: final report of a study of a large population of a asyntomatic or paucisyntomatic patients. Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy Journal of Neurology, 246:167, Perini M.P., Strazzer S., Napoli L., Comi G.P., Bordoni A., Fortunato F., Toscano A., Prelle A:, Martinuzzi A., Bresolin N., Scarlato G. Is Mitochondrial DNA depletion always of nuclear origin? A cybrid study. Pag. 140 di

70 52 nd Annual Meeting of the American Academy of Neurology. San Diego, CA, USA, May 1-7, 2000 Neurology, 53, ; Fagiolari G., Sciacco M., Bazzi P., Messina M., Lamperti C., Napoli L., Prelle A., Comi G.P., Bresolin N., Chiveri L., Scarlato G. Apoptosis in mitochondrial encephalomyopathies. 52 nd Annual Meeting of the American Academy of Neurology. San Diego, CA, USA, May 1-7, 2000 Neurology, 53, 181, Corti S., Martinuzzi A., Comi G.P., Locatelli F., Salani S., Fortunato F., Angelini C., Bresolin N., Scarlato G. Analysis of dystrophin expression in aminoglycoside treated myotubes of Duchenne Muscular Dystrophy patients. Tenth Meeting of the European Neurological Society, June 2000, Jerusalem Israel. Journal of Neurology, 247 (S3): 42, Lucchiari S., Comi G.P., Bordoni A., Fogh I., Bresolin N., Scralato G. Molecular basis of glycogen storage disease type III. Tenth Meeting of the European Neurological Society, June 2000, Jerusalem Israel. Journal of Neurology, 247 (S3): 42, Sironi M., Felisari G., Bardoni A., Cagliani R., Fortunato F., Prelle A., Tancredi L., Bonaglia M.C., Pozzoli U., Bresolin N., Comi G.P. Tenth Meeting of the European Neurological Society, June 2000, Jerusalem Israel. Journal of Neurology, 247 (S3): 43, Torrente Y., Fagiolari G., Gallanti A., Lamperti C., Salani S., Pisati F., Corti S., Comi G.P., Moggio M., Bresolin N., Scralato G. Apoptosis in myoblast transplantation. Tenth Meeting of the European Neurological Society, June 2000, Jerusalem Israel. Journal of Neurology, 247 (S3): 121, Comi G., Sironi M., Fortunato F., Giorda R., Bardoni A., Moggio M., Tancredi L., Bresolin N. Primary beta-sarcoglycanopathy manifesting as recurrent myoglobinuria induced by muscle exercise. Tenth Meeting of the European Neurological Society, June 2000, Jerusalem Israel. Journal of Neurology, 247 (S3): , Corti S., Strazzer S., Del Bo R., Salani S., D'Angelo M.G., Comi G.P., Bresolin N., Scarlato G. Chemotaxis of myogenic cells across endothelial monolayer. Atti congresso "Molecular Biology of Muscle Development and Disease", Pacific Grove, California, maggio 2000, p Torrente Y., D'Angelo M.G., Li Z., Del Bo R., Corti S., Mericskay M., DeLiso A., Fassati A., Pisati F., Belicchi M., Paulin D., Comi G.P., Scarlato G., Bresolin N. Transplacental injection of somite-derived cells in mdx mouse embryos for the correction Pag. of 141 di dystrophin deficiency.

71 Atti congresso "Molecular Biology of Muscle Development and Disease", Pacific Grove, California, maggio p Sironi M., Bardoni A., Felisari G., Cagliani R., Robotti M., Comi G.P., Bresolin N. Transcriptional activation of the non muscle full-length dystrophin isoforms in Duchenne Muscular Dystrophy muscle. Atti congresso "Molecular Biology of Muscle Development and Disease", Pacific Grove, California, maggio p D'Angelo M.G., torrente Y., Corti S., Pisati M., Belicchi M., Turconi A.C., Comi G.P., Bresolin N. The role of innervation in a mouse "in vitro" model of merosin negative congenital muscular dystrophy. Atti congresso "Molecular Biology of Muscle Development and Disease", Pacific Grove, California, maggio p G.P. Comi, F. Fortunato, S. Lucchiari, A. Bordoni, A. Prelle, S. Jann, A. Keller, P. Ciscato, S. Galbiati, L. Chiveri, Y. Torrente, G. Scarlato, N. Bresolin Beta-Enolase Deficiency, a New Metabolic Myopathy of Distal Glycolysis 53 rd Annual Meeting of the American Academy of Neurology. Philadelphia, PA, USA, May 6-13, 2001 Neurology, R. Del Bo, G.P. Comi, M. P. Perini, S. Strazzer, N. Bresolin, G. Scarlato Down Syndrome Fibroblasts Anticipate the Accumulation of Specific Age-Related Mutations in Mitochondrial DNA Control Region 53 rd Annual Meeting of the American Academy of Neurology. Philadelphia, PA, USA, May 6-13, Napoli L., Bordoni A., Comi G.P., Zeviani N., Terentiou A., Sciacco M., Tiranti V., Prelle A., Moggio M., Papadimitriou A., Scarlato G. Novel missense mutation of ANT1 gene in autosomal dominant progressive external ophthalmoplegia. Eleventh Meeting of the European Neurological Society, April 2001, Paris, France Journal of Neurology, 248: 40, Sironi M., Pozzoli U., Cagliani R., Comi G.P., Bardoni A., Bresolin N. Relevance of splicing determinants in the dystrophin gene for physiological and pathogenetic splicing mechanisms. Eleventh Meeting of the European Neurological Society, April 2001, Paris, France Journal of Neurology, 248: 58, D'Angelo M.G., Libera L., Cagliani R., Benti S., Comi G., Fabbro F., Turconi A., Bresolin N. Cognitive impairment and -sarcoglycan. Eleventh Meeting of the European Neurological Society, April 2001, Paris, France Journal of Neurology, 248: 90-91, Del Bo R., Comi G.P., Sciacco M., Napoli L., Bresolin N., Scarlato G. Specific ageing-related mutations in the human mtdna control region from normal muscles: a single-fiber study. Eleventh Meeting of the European Neurological Society, April 2001, Paris, France Pag. 142 di Journal of Neurology, 248: 91, 2001

72 125. Cagliani R., Comi G.P., Felisari G., Sironi M., Tancredi L., Prelle A., Fortunato F., Moggio M., D'Angelo M.G., Scarlato G. Heart involvement in primary alpha-sarcoglycanopathy Eleventh Meeting of the European Neurological Society, April 2001, Paris, France Journal of Neurology, 248: 91, Strazzer S., Corti S., Comi G.P., Del Bo R., Salani S., Fortunato F., Bresolin N., Scarlato G. Expression of muscle specific genes in mice bone marrow cells. Eleventh Meeting of the European Neurological Society, April 2001, Paris, France Journal of Neurology, 248: 91-92, Sciacco M., Fagiolari G., Lamperti C., Prelle A., Chiveri L., Comi G.P., Bordoni A., Perini M.P., Scarlato G., Moggio M. Lack of apoptosis in muscle tissue of patients with mutations of the Adenine Nucleotide Translocator 1 gene. Eleventh Meeting of the European Neurological Society, April 2001, Paris, France Journal of Neurology, 248: 181, Perini MP, Sciacco M.,Galbiati S, Bordoni A, Lamperti C., Comi GP, Moggio M, Messina S. Bresolin N, Scarlato G A late onset multisystem disorder with muscle mitochondrial DNA depletion Euromit Meeting. Venice San Servolo, September 20-23, Del Bo R., Sciacco M., Crimi M., Napoli L., Bresolin N., Scarlato G., Comi G.P. Somatic ageing-related mutations in the human mtdna control region from normal muscles: a single-fiber study Euromit Meeting. Venice San Servolo, September 20-23, Comi G.P., Napoli L., Bordoni A., Zeviani M., Terentiou A., Sciacco M., Tiranti L., Prelle A., Perini M.P., Papadimitriou A., Scarlato G. Novel missense L98P mutation of ANT1 gene in a Greek AD-PEO family Euromit Meeting. Venice San Servolo, September 20-23, Spelbrink J.N., Li F-Y., Tiranti, V., Nikali, K., Yuan, O-P., Tariq, M., Wanrooij S., Garrido N., Comi G., Morandi L., Santoro L., Toscano A., Fabrizi G-M., Somer H., Croxen R., Beeson D., Poulton J., Suomalainen A., Jacobs H.T., Zeviani M., Larsson C. MtDNA instability caused by mutations in Twinkle, a novel human protein with similarity to phage T7 DNA primase/helicase Euromit Meeting. Venice San Servolo, September 20-23, Sciacco M., Comi G.P., Rango M., Prelle A., Lamperti C., D Adda E., Perini M.P., Bordoni A., Galbiati S., Scarlato G., Moggio M Familial mtdna T8993C transition causing both the NARP and the MILS phenotype in the same generation: a morphologic, genetic, and spectroscopic study Euromit Meeting. Venice San Servolo, September 20-23, Prelle A, Fagiolari G, Sciacco M, Lamperti C, Chiveri L, Comi GP, Bordoni A, Perini MP, Scarlato G and Moggio M Pag. 143 di

73 No evidence of apoptosis in skeletal muscle tissue of PEO patients with mutations in the Adenine Nucleotide Translocator 1 gene Euromit Meeting. Venice San Servolo, September 20-23, Corti S., Locatelli F., Strazzer S., Salani S., Del Bo R., Soligo D., Bossolasco P., Bresolin N., Scarlato G., Comi G.P. Modulated generation of neuronal cells from bone marrow by expansion and mobilization of circulating stem cells with in vivo cytokine treatment. 54 th Annual Meeting of American Academy of Neurology, Denver, aprile Neurology, vol. 58, N 7, Suppl. 3, A31, Corti S., Locatelli F., Strazzer S., Salani S., Del Bo R., Soligo D., Bossolasco P., Bresolin N., Scarlato G., Comi G.P. Modulated generation of neuronal cells from bone marrow by expansion and mobilitazion of circulating stem cells with in vivo cytokine treatment. 12 Meeting of the European Neurological Society, Berlino, giugno Journal of Neurology, vol. 249, Suppl. 1, pp. 91, Del Bo R., Comi G.P., Giorda R., Crimi M., Locatelli F., Martinelli-Boneschi F., Pozzoli U., Castelli E., Bresolin N., Scarlato G. The 129 codon polymorphism of the prion protein gene influences cognitive performance in Down Syndrome subjects. 12 Meeting of the European Neurological Society, Berlino, giugno Journal of Neurology, vol. 249, Suppl. 1, pp. 103, M. Sironi, R. Cagliani, A. Bardoni, G.P. Comi, U. Pozzoli, N. Bresolin. Alternative splicing of the dystrophin rod-domain in normal human tissues and in DMD/BMD skeletal muscle 12 Meeting of the European Neurological Society, Berlino, giugno Journal of Neurology, vol. 249, Suppl. 1, pp. 87, S. Salani, S. Lucchiari, F. Fortunato, F. Locatelli, S. Corti, M. Crimi, N. Bresolin, G. Scarlato, G.P. Comi Dysferlin expression pattern in human primary muscle cultures 12 Meeting of the European Neurological Society, Berlino, giugno Journal of Neurology, vol. 249, Suppl. 1, pp. 88, R. Cagliani, M. Sironi, A. Toscano, S. Lucchiari, F. Fortunato, A. Prelle, L. Tancredi, S. Salani, M. Sciacco, C. Zecca, G. Comi, N. Bresolin. A novel splice-site mutation in a LGMD-2B family causing activation of a cryptic site and total dysferlin absence. 12 Meeting of the European Neurological Society, Berlino, giugno Journal of Neurology, vol. 249, Suppl. 1, pp. 89, M. Crimi, S. Galbiati, A. Bordoni, M. P. Perini, M. Monferini, M. Sciacco, I. Biunno, G. Ferrari, M. Moggio, G. Scarlato, G. P. Comi A novel mtdna trna-tryptophan mutation in a severe neurodegenerative disorder with progressive ataxia, dementia and axonal neuropathy. 12 Meeting of the European Neurological Society, Berlino, giugno Journal of Neurology, vol. 249, Suppl. 1, pp. 136, Pag. 144 di

74 141. M. Crimi, S. Galbiati, A. Bordoni, S. Strazzer, G. Malferrari, M. Sciacco, I. Biunno, F. Tiberio, N. Bresolin, G. Scarlato, G. P. Comi. The first maternally-inherited mutation of mitochondrial trna-his gene results in retinitis pigmentosa and neuro-sensorial hypoacusia 12 Meeting of the European Neurological Society, Berlino, giugno Journal of Neurology, vol. 249, Suppl. 1, pp. 137, M.G. D'Angelo, F. Civati, D.M. Gallotti, C. Gagliardi, R. Cagliani, G.P. Comi, A.C. Turconi, E. Castelli, N. Bresolin Cognitive, neuropsychological and psychiatric features in myotonic dystrophy: clinical and neuroimaging evaluation 12 Meeting of the European Neurological Society, Berlino, giugno Journal of Neurology, vol. 249, Suppl. 1, pp. 42, R. Cagliani, A. Gallanti, G. Comi, P. Ciscato, V. Cardin, S. Bonato, S. Galbiati, A. Prelle, S. Corti, N. Bresolin, M. Moggio A novel autosomal dominant CAV3 gene mutation results in both RMD and LGMD in the same family. 12 Meeting of the European Neurological Society, Berlino, giugno Journal of Neurology, vol. 249, Suppl. 1, pp. 43, M. Sciacco, A. Prelle, L. Tancredi, G. Fagiolari, G.P. Comi, P. Ciscato, M. Serafini, F. Fortunato, C. Zecca, A. Gallanti, L. Chiveri, N. Grimoldi, N. Bresolin, G. Scarlato, M. Moggio Clinical and immunological correlations in patients with dysferlin deficiency 12 Meeting of the European Neurological Society, Berlino, giugno Journal of Neurology, vol. 249, Suppl. 1, pp. 171, Menni F., Comi G., Daccò V., Appiani A., Parini R. Efficacy of indomethacin in the treatment of nephropathy of mitochondrial DNA disorder. Society of Inborn Errors of Metabolism, Dublin, September Journal of Inherited Errors of Metabolism, 25(S1): 90, Cagliani R., Gallanti A., Sironi M., Ciscato P., Cardin V., Bardoni A., Galbiati S., Chiveri L., Corti S., Prelle A., Moggio M., Bresolin N., Comi G.P. Coexistence of rippling muscle disease and limb girdle muscular dystrophy in a family with a novel autosomal dominant caveolin 3 gene mutation- 7 th Congress of the World Muscle Society, Rotterdam, NL. Neuromuscular Disorders, 12, , Crimi M., Galbiati S., Bordoni A., Strazzer S., Sciacco M., Perini M.P., Tiberio F., Zecca C., Biunno I., Moggio M., Bresolin N., Scarlato G. Comi G.P. Retinitis pigmentosa and neurosensorial hypoacusia caused by a maternallu-inherited mutation of mitochondrial trna His gene. 7 th Congress of the World Muscle Society, Rotterdam, NL. Neuromuscular Disorders, 12, 729, Bardoni A., Sironi M., Cagliani R., Comi G.P., Pozzoli U. Bresolin N. The dystrophin gene is alternatively spliced in both normal human tissues and DMD/BMD skeletal muscle. 7 th Congress of the World Muscle Society, Rotterdam, NL. Pag. 145 di Neuromuscular Disorders, 12, , 2002.

75 149.. Chiveri L., Gallanti A., Fratto P., Fortunato F., Grimoldi N., Lombardi F., Jann S., Comi G.P., Prelle A., Scarlato G., Vitali E., Moggio M. Cardiac and skeletal muscle involvement in a HIV seropositive converted patient. 7 th Congress of the World Muscle Society, Rotterdam, NL. Neuromuscular Disorders, 12, 772, Cagliani R, Sironi M, Bardoni A, Fortunato F, Moggio M, Bresolin N, Comi G (2003). A complex rearrangement in the DMD gene determines new exon inclusion and BMD phenotype. NEUROMUSCULAR DISORDERS, vol. 13, p , ISSN: Crimi M., Papadimitriou A., Papadimitriou D., Bordoni A., Bresolin N., Comi G (2003). A new mitochondrial rnutation in ND3 gene causing Leigh syndrome.. JOURNAL OF NEUROLOGY, ISSN: Crimi M., Papadimitriou A., Papadimitriou D., Bordoni A., Bresolin N., Comi G (2003). A new mitochondrial rnutation in ND3 gene causing Leigh syndrome.. JOURNAL OF NEUROLOGY, ISSN: Corti S., Locatelli F., Guglieri M., Papadirnitriou D., Strazzer S., Salani S., Bendotti C., Comi G (2003). BM derived stem cells contribute to CNS, heart and skeletal rnuscle regeneration in SOD1G93Amice.. NEUROLOGY, ISSN: Sironi M, Cagliani R, Pozzoli U, Elgar G, Riva L, Bresolin N, Bardoni A, Comi G (2003). Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature. NEUROMUSCULAR DISORDERS, vol. 13, p. 626, ISSN: D'Adda E., Lamperti C., Cagliani R., Ciscato P., Fagiolari G., Pelle A., Comi G, Bresolin N., Moggio M. (2003). Congenital muscular dystrophy and muscle inflammation.. JOURNAL OF NEUROLOGY, ISSN: Lamperti C, Cagliani R, Ciscato P, Lucchini V, Comi G, Fagiolari G, Prelle A, Bresolin N, Moggio M, Parini MB (2003). Congenital muscular dystrophy presenting as inflammatory myopathy. NEUROMUSCULAR DISORDERS, vol. 13, p. 656, ISSN: Guidi I., Galimberti D., Fenoglio C., Del Bo R., Gatti A., Perego L., Cogiamaniall F., Tiriticco M., Baron P., Conti G., Comi G, Bresolin N., Scarpini E. (2003). Endothelial nitric oxide synthase gene polymorphism Glu298Asp and apolipoprotein E genotype in Alzheimer's disease.. JOURNAL OF NEUROLOGY, ISSN: Lucchiari S, Salani S, Fortunato F, Crimi M, Corti S, Locatelli F, Bossolasco P, Bresolin N, Comi G (2003). Expression of a dysferlin isoform deleted of exon 17 in human primary cultures and tissues. NEUROMUSCULAR DISORDERS, vol. 13, p. 649, ISSN: Locatelli F., Corti S., Donadoni C., Moltesissa L., Guglieri M., Capra F., Strazzer S., Salani S., Del Bo R., Fortunato F., Bresolin N., Comi G (2003). Generation ofneural progenitors from murine bone marrow.. JOURNAL OF NEUROLOGY, ISSN: Sciacco M, Prelle A, D'Adda E, Fagiolari G, Ciscato P, Comi G, Jann S, Di Fonzo A, Crimi M, Pag. 146 di Bordoni A, Bresolin N, Moggio M (2003). Genetically documented CPT deficiency and

76 homoplasmic T3394C mtdna mutation in a patient with myoglobinuria and ragged red fibers at muscle biopsy. NEUROMUSCULAR DISORDERS, vol. 13, p. 641, ISSN: Sciacco M., Prehe A., Comi G, Fagiolari G., Ciscato P., D'Adda E., Bordoni A., Di Fonzo A., Crimi M., Lann S., Bresolin N., Moggio M. (2003). Homoplasmic T3394C mtdna mutation and genetically documented CPT deficiency in a patient with myoglobinuria and ragged red fibers at musde biopsy.. JOURNAL OF NEUROLOGY, ISSN: Sciacco M., Prelle A, D'Adda E., Ciscato P., Fagiolari G., Jann S., Comi G, Crirni M., Di Fonzo A, Bordoni A., Bresolin N., Moggio M. (2003). Homoplasrnic T3394C rntdna mutation and genetically documented CPT deficiency in a patient with rnyoglobinuria and evidence ofragged red fibers at muscle biopsy.. JOURNAL OF NEUROLOGY, ISSN: Di Fonzo A., Bordoni A., Galbiati S., Crimi M., Comi G (2003). Mitochondrial DNA polyrnerase ya gene rnutations in sporadic progressive external ophthalrnoplegia with multiple rntdna deletions.. NEUROLOGY, ISSN: Crimi M., Galbiati S., Bordoni A., Sciacco M., Bresolin N., Comi G (2003). Mitochondrial genome-wide screening in mitochondrial encephalomyopathies without cornmon mutation.. NEUROLOGY, ISSN: Musumeci O., Aguennouz M., Cagliani R., Comi G, Messina C., Migliorato A., Tiranni A., Messina C., Vita G., Toscano A. (2003). Muscle calpain-3 deficiency in quail eater's disease.. NEUROLOGY, ISSN: Del Bo R., Baron P., Prehe A., Serafini M., Moggio M., Di Fonzo A., Bresolin N., Comi G (2003). Novel rnissense rnutations and large deletion ofgne gene in two Italian families with autosornal recessive IBM.. JOURNAL OF NEUROLOGY, ISSN: Gironi M., Lamperti C., Nemni R., Moggio M., Comi G, Guerini F., Ferrante P., Canal N. (2003). The first case of familiallate-onset cerebellar ataxia with hypogonadism associated with coenzyme QI0 deficiency.. NEUROLOGY, ISSN: D'Angelo MG, Tonelli A, Redaelli E, Guglieri M, Fortunato F, Turconi AC, Sciacco M, Comi G, Bresolin N, Bassi MT (2004). A novel mutation in the paraplegin gene in a family with autosomal recessive HSP. JOURNAL OF NEUROLOGY, vol. 251, p. 188, ISSN: Corti S, Locatelli F, Guglieri M, Papadimitriou D, Salani S, Strazzer S, Del Bo R, Fortunato F, Comi G (2004). A subpopulation of human peripheral blood cells develops nestin-positive sphere structures and expresses neuronal markers. NEUROLOGY, vol. 62, p. A458, ISSN: Scarlato M, Carpo M, Previtali S, Allaria S, Pareyson D, Briani C, Casellato C, Nobile-Orazio E, Comi G, Bresolin N, Quattrini A (2004). Angiogenic factors, VEGF and EPO, in POEMS syndrome. NEUROLOGY, vol. 62, p. A342, ISSN: Guglieri M, Civati E, Cagliani R, D'Angelo MG, Fortunato F, Moggio M, Turconi AC, Comi G, Bresolin N (2004). Brain involvement in the limb girdle muscular dystrophies. JOURNAL OF NEUROLOGY, vol. 251, p. 174, ISSN: Galimberti D, Guidi I, Venturelli E, Gatti A, Fenoglio C, Del Bo R, Lovati C, Galbarti S, Comi Pag. 147 di G, Mariani C, Forloni G, Baron P, Conti G, Bresolin N, Scarpini E (2004). Glu298ASP

77 polymorphism of the e-nos gene and homocysteine levels in patients with Alzheimer's disease and vascular dementia. NEUROBIOLOGY OF AGING, vol. 25, p. S492, ISSN: , doi: /S (04) Sciacco M, Fruguglietti E, Lucchini V, Zecca C, Lamperti C, Galbiati S, Tiberio F, Comi G, Bresolin N, Moggio M, Prelle A (2004). Idiopathic hyperckemia: follow-up of a large population of asymptomatic/oligosymptomatic patients. JOURNAL OF NEUROLOGY, vol. 251, p. 83, ISSN: Del Bo R, Scarlato M, Ghezzi S, Casellato C, D'Adda E, Prelle A, Nobile-Orazio E, Bresolin N, Comi G (2004). Lack of association between VEGF gene promoter variability and sporadic ALS. JOURNAL OF NEUROLOGY, vol. 251, p. 154, ISSN: Civati F., Guglieri M., D'Angelo M.G., Tavano A., Fabbro F., Lorusso M.L., Sironi M., Turconi A.C., Comi G, Bresolin N. (2004). Language disorders in Duchenne's muscular dystrophy.. JOURNAL OF NEUROLOGY, ISSN: Corti S, Locatelli E, Papadimitriou D, Donadoni C, Guglieri M, Salani S, Strazzer S, Del Bo R, Comi G (2004). Migration and differentiation of neural stem cells into NMD mice, an animal model of spinal muscular atrophy. JOURNAL OF NEUROLOGY, vol. 251, p , ISSN: Del Bo R., Ghezzi S., Bordoni A., Crimi M., Galbiati S., Sciacco M., Virgilio R., Lucchini V., Bresolin N., Comi G (2004). Molecular and cellular distribution of mtdna control region mutations in POLGI/PEO patients.. JOURNAL OF NEUROLOGY, ISSN: Galbiati S, Papadimitriou D, Bordoni A, Crimi M, Katsarou E, Garoufi A, Bresolin N, Papadimitriou A, Comi G (2004). New mutation in thymidine kinase 2 gene associated with mitochondrial encephalomyopathy. JOURNAL OF NEUROLOGY, vol. 251, p. 173, ISSN: Scarlato M., Carpo M., Orsi E., Gangi E., Nobile Orazio E., Comi G, Bresolin N. (2004). Vascular endothelial growth factor serum concentration and diabetic neuropathy.. JOURNAL OF NEUROLOGY, ISSN: Locatelli F., Corti S., Papadimitriou D., Donadoni C., Crimi M., Del Bo R., Bordoni A., Strazzer S., Salani S., Bresolin N., Comi G (2005). ALDH neural stem cells generate motor neurons and ameliorate the phenotype of nmd mice, an animal model of SMARD1. NEUROLOGICAL SCIENCES, ISSN: Locatelli F., Corti S., Papadimitriou D., Donadoni C., Crimi M., Del Bo R., Bordoni A., Strazzer S., Salani S., Bresolin N., Comi G (2005). ALDH positive neural stem cells generate motor neurons and promote functional recovery in NMD mice, an animal model of SMARD1.. JOURNAL OF NEUROLOGY, ISSN: Locatelli F, Corti S, Papadimitriou D, Donadoni C, Crimi M, Del Bo R, Bordoni A, Strazzer S, Salani S, Bresolin N, Comi G (2005). Aldehyde dehydrogenase positive neural stem cells generate motor neurons and promote functional recovery in an animal model of Spinal Muscular Atrophy with Respiratory Distress type 1.. JOURNAL OF NEUROLOGY, ISSN: Pag. 148 di

78 183 Del Bo R, Scarlato M, Ghezzi S, Martinelli-Boneschi F, Fenoglio C, Galbiati S, Virgilio R, Galimberti D, Galimberti G, Crimi M, Ferrarese C, Scarpini E, Bresolin N, Comi G (2005). Association between VEGF gene and sporadic Alzheimer's disease. NEUROLOGY, vol. 64, p. A415, ISSN: Saccomanno D., Scarlato M, Comi G, Bresolin N., Carpo M. (2005). Atypical anti-neuronal reactivity in neurological disorders: could have another role besides being paraneoplastic?. NEUROLOGICAL SCIENCES, ISSN: Guglieri M., Magri F., Cagliani R., D'Angelo M.G., Prelle A., Fortunato F., Lucchiari S., Salani S., Del Bo R., Bordoni A., Ghezzi S., Zecca C., Lamperti C., Moggio M., Bresolin N., Comi G (2005). Autosomal dominant and recessive limb-girdle muscular dystrophies: relative frequency in a large Italian population.. JOURNAL OF NEUROLOGY, ISSN: Cagliani R, Magri F, Toscano A, Merlini L, Fortunato F, Lamperti C, Rodolico C, Prelle A, Sironi M, Aguennouz M, Ciscato P, Uncini A, Moggio M, Bresolin N, Comi G (2005). Dysferlinopathies: muscle annexin A1 and A2 expression levels correlate with clinical phenotype in a large group of genetically diagnosed patients.. JOURNAL OF NEUROLOGY, ISSN: Musumeci O., Bordoni A., Aguennouz M., Rodolico C., Autunno M., Cianci V., Vita G., Taroni F., Comi G, Toscano A. (2005). Fatal R631C mutation is also present in the adult form of CPTII deficiency. JOURNAL OF NEUROLOGY, ISSN: Locatelli F., Corti S., Papadimitriou D., Donadoni C., Del Bo R., Fortunato F., Strazzer S., Salani S., Bresolin N., Comi G (2005). Multipotentiality, homing properties and neurogenesis of CNS-derived LeX(sssea-1)+/CXCR4+ stem cells.. NEUROLOGY, ISSN: Del Bo R., Ghezzi S., Locatelli F., Scarlato M., Corti S., Prelle A., Fagiolari G., Ripolone M., Moggio M., Carpo M., Bresolin N., Comi G (2005). Novel missense GARS gene mutation in an Italian family with hereditary distal motor neuropathy.. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN: Di Fonzo A., Ghione I., Del Bo R., Saladino F., Rango M., Bresolin N., Comi G (2005). PARK2 gene variability in idiopathic Parkinson s disease.. PARKINSONISM & RELATED DISORDERS, ISSN: Ghione I., Rango M., Di Fonzo A., Del Bo R., Saladino F., Bresolin N., Comi G (2005). PARK2 gene variability in idiopathic Parkinson s disease.. NEUROLOGICAL SCIENCES, ISSN: Papadimitriou D, Corti S, Locatelli F, Donadoni C, Del Bo R, Fortunato F, Strazzer S, Salani S, Bresolin N, Comi G (2005). Pyramidal cells generation from multipotent CNS-derived LeX(ssea- 1)+/CXCR4+ stem cells. JOURNAL OF NEUROLOGY, vol. 252, p. 66, ISSN: Virgilio R., Russo A., Guglieri M., Marchi E., D Angelo M.G., Turconi A.C., Comi G, Bresolin N. (2005). Respiratory function in Duchenne Muscular Dystrophy: an Italian casistic.. NEUROLOGICAL SCIENCES, ISSN: Pag. 149 di

79 194 Saladino F., Scarlato M., Carpo M., Bordoni A., Nobile-Orazio E., Bresolin N., Comi G (2005). Survival motor neuron (SMN1 and SMN2) genes copy number in multifocal motor neuropathy.. NEUROLOGICAL SCIENCES, ISSN: Scarlato M, Briani C, Zara G, Doria A, Malaguti MC, Previtali SC, Carpo M, Del Bo R, Comi G, Quattrini A (2005). Thalidomide-induced neuropathy is a distal axonopathy not due to VEGF inhibition. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, vol. 10, p. 82, ISSN: Guglieri M., Magri F., D'angelo M.G., Cagliani R., Bordoni A., Ronchi D., Grezzi S., Del Bo R., Prelle A., Moggio M., Mongini T., Mora M., Turconi A.C., Bresolin N., Comi G (2005). The limb girdle muscular dystrophies: clinical, biochemical and genetic evaluation of a large Italian population.. NEUROLOGICAL SCIENCES, ISSN: Corti S, Locatelli F, Papadimitriou D, Donadoni C, Crimi M, Del Bo R, Bordoni A, Strazzer S, Salani S, Bresolin N, Comi G (2005). Transplantation of ALDH expressing neural stem cell subpopulation derived from spinal cord into Nmd mice, an animal model of SMARD1. NEUROLOGY, vol. 64, p. A74-A75, ISSN: Scarlato M., Briani C., Zara G., Doria A., Previtali S.C., Carpo M., Del Bo R., Comi G, Quattrini A. (2005). VEGF and BFGF modulation are not involved in thalidomide-induced neuropathy.. NEUROLOGICAL SCIENCES, ISSN: Del Bo R, Ghezzi S, Locatelli F, Scarlato M, Corti S, Prelle A, Fagiolari G, Ripolone M, Moggio M, Carpo M, Bresolin N, Comi G (2005). Novel missense GARS gene mutation in an Italian family with hereditary distal motor neuropathy.. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN: Del Bo R., Guglieri M., D Angelo M.G., Ghezzi S., Magri F., Napoli L., Prelle A., Turconi A.C., Moggio M., Bresolin N., Comi G (2006). Autosomal recessive myopathy inclusion bodies caused by GNE gene mutations.. JOURNAL OF NEUROLOGY, ISSN: Guglieri M., Magri F., Cagliani R., D Angelo M.G., Prelle A., Fortunato F., Del Bo R., Ghezzi S., Zecca C., Lamperti C., Morandi L., Mora M., Moggio M., Bresolin N., Comi G (2006). Dysferlinopathies: clinical and genetic correlation in a large population.. NEUROLOGICAL SCIENCES, ISSN: Del Bo R., Ghezzi S., Scarlato M., Corti S., Locatelli F., Santoro D., Prelle A., Briani C., Nardini M., Siciliano G., Mancuso M., Murri L., Bresolin N., Comi G (2006). Lack of association between angiogenin VEGF gene variation and ALS in Italian patients.. CLINICAL NEUROPATHOLOGY, ISSN: Daniele N., Milic A., Bartoli M., Lochmuellera H., Mora M., Comi G, Moggio M., Noulet F., Poupiot J., Richard I. (2006). Measuring calpain 3 proteolytic activity using an in vitro substrate.. NEUROMUSCULAR DISORDERS, ISSN: Martinuzzi A., Rossetto M.G., Crippa F., Panzeri C., Musumeci O., Vazza G., Toscano A., Comi G, D Angelo G., Mostacciuolo M.L., Trevisan C.P., Siciliano G., Meola G., Profice P., Daga A., Pandolfo M., Bresolin N., Bassi M.T. (2006). Molecular and clinical characterization of a large cohort of Italianpatients with Hereditary Spastic Paraplegia (HSP). NEUROMUSCULAR Pag. 150 di DISORDERS, ISSN:

80 205 Roche C., Di Fonzo A., Del Bo R., Van Unen L., Hoogeveen A., de Graaff E., Bredveld G., Scarlato M., Oostra B., Comi G, Bonifati V. (2006). Mutational analysis of the DJ-1 gene in sporadic patients with amyotrophic lateral sclerosis. EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN: Roche C., Di Fonzo A., Del Bo R., Van Unen L., Hoogeveen A., de Graaff E., Bredveld G., Scarlato M., Oostra B., Comi G, Bonifati V. (2006). Mutational analysis of the DJ-1 gene in sporadic patients with amyotrophic lateral sclerosis.. EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN: Papadimitriou D., Corti S., Locatelli F., Donadoni C., Salani S., Del Bo R., Strazzer S., Nizzardo M., Nardini M., Bresolin N., Comi G (2006). Neural stem cell population deriving from SOX2-dependent dedifferentiated human astrocytes as possible cell source for cell mediated therapy in neurodegenerative diseases.. NEUROLOGICAL SCIENCES, ISSN: Magri F., Scarlato M., Locatelli F., Saccomanno D., Carpo M., Bresolin N., Comi G (2006). Neuroborreliosis mimicking a paraneoplastic syndrome.. NEUROLOGICAL SCIENCES, ISSN: Lamperti C., Salani S., Fagiolari G, Fruguglietti E., Grimoldi N., Prelle A., Bordoni A., Ripolone M., Crugnola V., Bresolin N., Comi G (2006). Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen Disease associated with a new mutation in GBE1 gene.. NEUROMUSCULAR DISORDERS, ISSN: Virgilio R., Bordoni A., Ronchi D., Hadjigeorgiou G.M., Del Bo R., Crugnola V., Kafetsouli D., Tsironi E., Papadimitriou A., Bresolin N., Comi G (2006). New Twinkle Gene Mutations in PEO Patients with Multiple Mitochondrial DNA Deletions.. NEUROLOGY, ISSN: Papadimitriou D., Corti S., Locatelli F., Donadoni C., Salani S., Del Bo R., Strazzer S., Nizzardo M., Sardanu G., Bresolin N., Comi G (2006). SOX2-Dependent Dedifferentiation of Human Astrocytes in Multipotent Stem Cells as Possible Cell Source for Repair in CNS Diseases.. NEUROLOGY, ISSN: Virgilio R., Ronchi D., Bordoni A., Adobbati L., Hadjigeorgiou G.M., Saladino F., Papadimitriou A., Moggio M., Bresolin N., Comi G (2006). Screening of mitochondrial myopathy with mtdna multiple deletions and characterisation of patients without mutations in known loci.. NEUROLOGICAL SCIENCES, ISSN: Locatelli F., Corti S., Papadimitriou D., Donadoni C., Salani S., Del Bo R., Fortunato F., Strazzer S., Nizzardo M., Nardini M., Bresolin N., Comi G (2006). Si-Rna silencing interfers on motor neuron degeneration of SOD1 G93A ALS mouse model.. NEUROLOGICAL SCIENCES, ISSN: Carpo M., Baron P.L., Scarlato M., Egidi M., Saccomanno D., Brighina E., Piola M., Barbieri S., Bresolin N., Comi G (2006). Stiff-Person Sindrome responding to intrathecal baclofen.. NEUROLOGICAL SCIENCES, ISSN: Corti S., Locatelli F., Papadimitriou D., Del Bo R., Donadoni C., Salani S., Strazzer S., Nizzardo M., Sardanu G., Bresolin N., Comi G (2006). Transplantation of LeX+/CXCR4+ Adult Pag. 151 di

81 Neural Stem Cells in the Spinal Cord of a Murine Model of Amyotrophic Lateral Sclerosis.. NEUROLOGY, ISSN: Corti S., Locatelli F., Papadimitriou D., Del Bo R., Nardini M., Salani S., Nizzardo M., Sardanu G., Strazzer S., Bresolin N., Comi G (2006). Transplantation of LeX+/CXCR4+ adult neural stem cells delays disease progression of SOD1 mice, an animal model of amyotrophic lateral sclerosis (ALS).. CLINICAL NEUROPATHOLOGY, ISSN: Locatelli F., Corti S., Papadimitriou D., Donadoni C., Salani S., Del Bo R., Fortunato F., Strazzer S., Nizzardo M., Sardanu G., Bresolin N., Comi G (2006). sirna Mediated Interference of Motoneuron Death Triggered by Fas in SOD1 G93A ALS Mouse Model.. NEUROLOGY, ISSN: V. Lucchini, M. Berardinelli, M. Carpanelli, M. Sciacco, A. Bordoni, D. Ronchi, E. Fassone, M. Servida, M. Pluderi, Comi G, M. Moggio, N. Bresolin, C. Lamperti (2008). mtdna depletion in a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1 spinal muscular atrophy. JOURNAL OF NEUROLOGY, ISSN: Virgilio R., Bordoni A., Ronchi D., Saladino F., Bresolin N., Sciacco M., Comi G (2007). A novel mutation in the mitochondrial trna LeuCUN gene associated with a mitochondrial myopathy with respiratory impairment.. NEUROMUSCULAR DISORDERS, ISSN: Carpo M., Scarlato M., Saccomanno D., Barbieri S., Bersano A., Allaria S., Bresolin N., Comi G (2007). An unusual presentation of multifocal motor neuropathy.. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN: Carpo M., Saccomanno D., Scarlato M., Bersano A., Saladino F., Allaria S., Nobile-Orazio E., Bresolin N., Comi G (2007). Changes in neuroimmunological pattern in IVIg treated-mmn patients: a long term follow up.. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN: Magri F., Guglieri M., D Angelo M., Cagliani R., Del Bo R., Ghezzi S., Ronchi D., Prelle A., Lamperti C., Fortunato F., Morandi L., Mora M., Moggio M., Bresolin N., Comi G (2007). Clinical and genetical variability in a large sample of LGMD Italian patients.. NEUROMUSCULAR DISORDERS, ISSN: Bersano A., Del Bo R., Lamperti C., Ghezzi S., Bresolin N., Napoli L., Ballabio E., Moggio M., Candelise L., Comi G, Corti S. (2007). Clinical and pathological aspects of an Italian patient with inclusion body myopathy and frontotemporal dementia carrying a novel mutation in valosincontaining protein gene.. JOURNAL OF NEUROLOGY, ISSN: Guglieri M., Magri F., D Angelo M.G., Prelle A., Cagliani R., Fortunato F., Bordoni A., Del Bo R., Ghezzi S., Lucchiari S., Salani S., Zecca C., Lamperti C., Ronchi D., Ciscato P., Moranti L., Mora M., Moroni I., Rodolico C., Toscano A., Moggio M., Bresolin N., Comi G (2007). Clinical, molecular and protein correlations in a large sample of genetically diagnosed limb girdle muscular dystrophy patients. NEUROLOGY, ISSN: Santoro D., Lucchiari S., Pagliarani S., Bordoni A., Filocamo M., Di Rocco M., Rodolico C., Toscano A., Melis D., Parini R., Paci S., Giovannini M., Donati M., Bresolin N., Comi G (2007). Disease natural history in a large group of genetically diagnosed glycogen storage disease type III.. Pag. 152 di JOURNAL OF NEUROLOGY, ISSN:

82 226 Corti S., Bordoni A., Ronchi D., Santoro A., Papadimitriou D., Lamperti C., Lucchini V., Magri M., Guglieri M., Crugnola V., Moggio M., Bresolin N., Comi G (2007). Familial Amyotrophic Lateral Sclerosis with a novel Q23R mutation in the Copper/zinc Superoxide Dismutase gene associated with muscle mitochondrial dysfunction.. NEUROLOGY, ISSN: Corti S., Locatelli F., Papadimitriou D., Fortunato F., Del Bo R., Donadoni C., Nizzardo M., Nardini M., Salani S., Ghezzi S., Strazzer S., Bresolin N., Comi G (2007). Fas sirna mediated interference reduces motor neuron death in amyotrophic lateral sclerosis mouse model.. NEUROMUSCULAR DISORDERS, ISSN: Guglieri M., Magri F., Cagliani R., D'Angelo M.G., Pelle A., Del Bo R., Ghezzi S., Fortunato F., Lamperti C., Moranti L., Mora M., Moggio M., Bresolin N., Comi G (2007). Genotype and phenotype correlation in dysferlinopathies.. JOURNAL OF NEUROLOGY, ISSN: Lucchiari S., Pagliarani S., Moggio M., Corti S., Lamperti C., Comi G (2007). Hypokalaemic periodic paralysis: a new nonsense mutation in KCNJ 2 gene.. JOURNAL OF NEUROLOGY, ISSN: Ghezzi S., Del Bo R., Bonato S., Airoldi G., D Angelo M.G., Turioni A.C., Bassi M.T., Bresolin N., Comi G (2007). Intrafamilial variable presentation of CMT2, spastic paraparesis and cognitive impairment caused by a novel autosomal dominant MFN2 mutation.. NEUROLOGY, ISSN: D Angelo M.G., Civati F., Lorusso M., Marini A., Comi G, Turconi A., Fabbro F., Bresolin N. (2007). Language and reading disorders in Duchenne muscular dystrophy: Neuropsychological assessment.. NEUROMUSCULAR DISORDERS, ISSN: Carpo M., Scarlato M., Saccomanno D., Barbieri S., Bersano A., Allaria S., Bresolin N., Comi G (2007). Multifocal motor neuropathy with an unusual clinical presentation.. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN: Crugnola V., Lucchini V., Corti S., Addobbati L., Ciammola A., Ticozzi N., Fruguglietti M.E., Prelle A., Santoro D., Virgilio R., Silani V., Bresolin N., Moggio M., Comi G (2007). Muscle mitochondrial oxidative defects in amyotrophic lateral sclerosis.. JOURNAL OF NEUROLOGY, ISSN: Papadimitriou D., Corti S., Locatelli F., Nizzardo M., Nardini M., Donadoni C., Salani S., Del Bo R., Ghezzi S., Fortunato F., Strazzer S., Bresolin N., Comi G (2007). Neural stem cell intratechal transplantation ameliorates the phenotype of a spinal muscular atrophy murine model.. JOURNAL OF NEUROLOGY, ISSN: Angelini C., Toscano A., Mongini T., Comi G, Gauthier R., Servidei S., Ravaglia S., Bruno C., Semplicioni C. (2007). Protocol for enzyme replacement therapy in late-onset glycogenosis type II (GSDII). NEUROMUSCULAR DISORDERS, ISSN: Lucchini V., Fagiolari G., Lamperti C., Fortunato F., Ponzi D., Crugnola V., Sciacco M., Bresolin N., Moggio M., Comi G, Bonato S.. (2007). Purkinje cell mitochondrial oxidative defect in the animal model of spinocerebellar ataxia type 1. JOURNAL OF NEUROLOGY, ISSN: Pag. 153 di

83 237 Papadimitriou D., Corti S., Locatelli F., Nizzardo M., Cardini M., Donadoni C., Salani S., Del Bo R., Ghezzi S., Fortunato F., Strazzer S., Bresolin N., Comi G (2007). Transplantation of an ALDHhiSSCio population as a potential therapy os spinal muscular atrophy. NEUROLOGY, ISSN: G. Remiche, D. Ronchi, C. Lamperti, M.G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola, F. Magri, M. Moggio, N. Bresolin, Comi G (2008). 2008). Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants.. NEUROLOGY, ISSN: C. Lamperti, V. Crugnola, M. Servida, G. Fagiolari, M. Serafini, A. Prelle, M. Sciacco, F. Fortunato, L. Napoli, A. Di Fonzo, G. P. Comi, R. G. Tupler, N. Bresolin, M. Moggio (2008). A Late Role of ANT-1 Overexpression in the Pathogenesis of FSHD. NEUROLOGY, ISSN: C. Lamperti, V. Crugnola, M. Servida, G. Fagiolari, M. Serafini, A. Prelle, M. Sciacco, F. Fortunato, L. Napoli, A. Di Fonzo, Comi G, R. G. Tupler, N. Bresolin, M. Moggio (2008). A Late Role of ANT-1 Overexpression in the Pathogenesis of FSHD.. NEUROLOGY, ISSN: F. Magri, R. Virgilio, R. Del Bo, F. Fortunato, S. Ghezzi, R. Cagliani, M. Sironi, M.G. D'Angelo, V. Crugnola, M. Moggio, N. Bresolin, G.P. Comi (2008). A stop codon mutation in the 5 of the dystrophin gene associated to a Becker muscular dystrophy phenotype. JOURNAL OF NEUROLOGY, ISSN: Remiche G., Ronchi D., Lamperti C., D'Angelo M.G., Parini B., Bordoni A., Montrasio C., Crugnola V., Magri F., Moggio M., Bresolin N., Comi G (2008). Adult Form Type II Glycogen Storage Disease in a Northern Italy Population: Phenotype Characterization, Early Diagnosis and Prognostic Determinants.. NEUROLOGY, ISSN: G. Remiche, D. Ronchi, C. Lamperti, M.G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola, F. Magri, M. Moggio, N. Bresolin, G.P. Comi (2008). Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants. NEUROLOGY, vol. 70, p. A1-S84, ISSN: G. Remiche, D. Ronchi, C. Lamperti, M.G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola, F. Magri, M. Moggio, N. Bresolin, Comi G (2008). Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants. NEUROLOGY, ISSN: F.M.B. Magri, C. Lamperti, D. Ronchi, E. Fassone, N. Grimoldi, M. Moggio, N. Bresolin, G.P. Comi (2008). Autosomal Recessive Ala93Thr mutation in caveolin-3 gene : a new family. NEUROMUSCULAR DISORDERS, vol. 18, p. 768, ISSN: , doi: /j.nmd Magri F., Lamperti C., Ronchi D., Fassone E., Grimoldi N., Moggio M., Bresolin N., Comi G (2008). Autosomal Recessive Ale93Thr mutation in caveolin-3 gene: a new family13th. NEUROMUSCULAR DISORDERS, ISSN: F. Magri, R. Del Bo, F. Fortunato, S. Ghezzi, R. Cagliani, M. Sironi, M.G. D Angelo, V. Crugnola, M. Moggio, N. Bresolin, G.P. Comi (2008). Becker muscular dystrophy with a stop Pag. 154 di

84 codon mutation in the 5 of the dystrophin gene. NEUROMUSCULAR DISORDERS, ISSN: Romei M., D Angelo M.G., Lo Mauro A., Bonato S., Gandossini S., Turconi A.C., Comi G, Marchi E., Pedotti A., Bresolin N., Aliverti A. (2008). Breathing pattern in neuromuscular disorders.. NEUROMUSCULAR DISORDERS, ISSN: M. Servida, L. Napoli, D. Ronchi, P. Ciscato, A. Bordoni, A. Prelle, G.P. Comi, M. Moggio, N. Bresolin, M. Sciacco (2008). Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtdna deletions. JOURNAL OF NEUROLOGY, vol. 255, p. 148, ISSN: , doi: /s Servida M., Napoli L., Ronchi D., Ciscato P., Bordoni A., Prelle A., Comi G, Moggio M., Bresolin N., Sciacco M. (2008). Cephalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtdna Deletions.. JOURNAL OF NEUROLOGY, ISSN: D. Ronchi, A. Bordoni, R. Virgilio, E. Fassone, A. DiFonzo, M. Servida, M. Ronconi, V. Lucchini, M. Matteoli, N. Bresolin, Comi G (2008). Clinical features of an adult-onset Leigh syndrome caused by the T9176C mutation in the mitochondrial DNA ATPase 6 gene.. JOURNAL OF NEUROLOGY, ISSN: R. Virgilio, F. Magri, R. Del Bo, S. Ghezzi, S. Tedeschi, M.G. D Angelo, D. Coviello, A. Prelle, A. Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, G.P. Comi (2008). Comprehensive genetic analysis and clinical follow-up findings in 203 DMD patients. NEUROMUSCULAR DISORDERS, ISSN: G. Remiche, A. Lo Mauro, A. Aliverti, P. Tarsia, G.P. Comi, N. Bresolin, M.G. D Angelo (2008). Evaluation of optoelectronic plethysmography (OEP) in assessment of respiratory function in patients with type II glycogenosis (adult form).. NEUROMUSCULAR DISORDERS, ISSN: R. Cagliani, E. Fruguglietti, A. Berardinelli, M.G. D Angelo, A. Prelle, K. Gorni, S. Orcesi, C. Lamperti, E. Signaroldi, R. Tupler, M. Moggio, G.P. Comi (2008). Genetic and ultrastructural findings in Selenoprotein N1-related congenital myopathies. NEUROMUSCULAR DISORDERS, ISSN: S.M. Messina, F.M.S. Santorelli, M.M. Mora, C.B. Bruno, E.P. Pegoraro, A.P. Pini, T.M. Mongini, A.D. d Amico, M.P. Pane, R.B. Biancheri, A.B. Berardinelli, A.T. Toscano, L.M. Morandi, I. Moroni, G.P. Comi, C. Uggetti, C.P.T. Trevisan, L.F. Farina, A.P. Pichiecchio, C.S. Scuderi, A.R. Ruggieri, E.B. Bertini, E.M. Mercuri (2008). Genotype phenotype correlations in congenital muscular dystrophies with defective glycosylation of dystroglycan : a multicentric Italian study. NEUROMUSCULAR DISORDERS, ISSN: Messina S.M., Santorelli F.M.S., Mora M.M., Bruno C.B., Pegoraro E.P., Pini A.P., Mongini T.M., D Amico A.D., Pane M.P., Biancheri R.B., Berardinelli A.B., Toscano A.T., Morandi L.M., Moroni I., Comi G, Uggetti C., Trevisan C.P.T., Farina L.F., Pichiecchio A.P., Scuderi C.S., Ruggieri A.R., Bertini E.B., Mercuri E.M. (2008). Genotype phenotype correlations in congenital muscular dystrophies with defective glycosylation of dystroglycan: A multicentric Italian study.. NEUROMUSCULAR DISORDERS, ISSN: Pag. 155 di

85 257 S. Corti, M. Nizzardo, M. Nardini, C. Donadoni, S. Salani, F. Fortunato, R. Del Bo, F. Locatelli, D. Papadimitriou, S. Strazzer, N. Bresolin, Comi G (2008). HB9-Positive Neural Stem Cell-Derived Motor Neurons Improve Disease Phenotype after Transplantation into a SMARD1 Animal Model.. NEUROLOGY, ISSN: M. Romei, M.G. D Angelo, A. Lo Mauro, S. Bonato, S.Gandossini, A.C. Turconi, G.P. Comi, E. Marchi, A. Pedotti, N.Bresolin, A. Aliverti (2008). M. Romei, M.G. D Angelo, A. Lo Mauro, S. Bonato, S.Gandossini, A.C. Turconi, G.P. Comi, E. Marchi, A. Pedotti, N.Bresolin, A. Aliverti. NEUROMUSCULAR DISORDERS, ISSN: R. Virgilio, D. Ronchi, A. Bordoni, E. Fassone, M. Moggio, S. Bonato, G. Conti, C. Donadoni, L. Barbetta, G. Torgano, S. Corti, N. Bresolin, G.P. Comi (2008). Mitochondrial DNA G8363A mutation in the trna Lys gene : clinical features of a new family. JOURNAL OF NEUROLOGY, vol. 255, p. 69, ISSN: R. Virgilio, D. Ronchi, A. Bordoni, E. Fassone, M. Moggio, S. Bonato, G. Conti, C. Donadoni, L. Barbetta, G. Torgano, S. Corti, N. Bresolin, Comi G (2008). Mitochondrial DNA G8363A mutation in the trna Lys gene : clinical features of a new family.. JOURNAL OF NEUROLOGY, ISSN: Virgilio R., Ronchi D., Bordoni A., Fassone E., Moggio M., Bonato S., Conti G., Donadoni C., Barbetta L., Torgano G., Corti S., Bresolin N., Comi G (2008). Mitochondrial DNA G8363A mutation in the trna Lys gene: clinical features of a new family.. JOURNAL OF NEUROLOGY, ISSN: Corti S., Nizzardo M., Nardini M., Donandoni C., Saladino F., Fortunato F., Tucci A., Bresolin N., Comi G (2008). Murine Embryonic (mes) Derived Neural Stem Cells Transplantation Ameliorates Disease Phenotype of a Spinal Muscular Atrophy Model.. NEUROLOGY, ISSN: R. Cagliani, A. Berardinelli, M. G. D'Angelo, A. Prelle, E. Fruguglietti, K. Gorni, S. Orcesi, C. Lamperti, E. Signaroldi, R. Tupler, N. Bresolin, M. Moggio, G. P. Comi (2008). New Molecular and Ultrastructural Findings in Congenital Myopathies Due to Selenoprotein N1 Gene Mutations. NEUROLOGY, ISSN: R. Cagliani, A. Berardinelli, M. G. D'Angelo, A. Prelle, E. Fruguglietti, K. Gorni, S. Orcesi, C. Lamperti, E. Signaroldi, R. Tupler, N. Bresolin, M. Moggio, Comi G (2008). New Molecular and Ultrastructural Findings in Congenital Myopathies Due to Selenoprotein N1 Gene Mutations.. NEUROLOGY, ISSN: M.E. Fruguglietti, R. Cagliani, L. Napoli, A. Berardinelli, M.G. D'Angelo, K. Gorni, S. Orcesi, C. Lamperti, E. Signaroldi, R. Tupler, N. Bresolin, M. Moggio, G.P. Comi, A. Prelle (2008). Peculiar ultrastructural findings in congenital myopathies due to selenoprotein N1 gene new mutations. JOURNAL OF NEUROLOGY, ISSN: M.E. Fruguglietti, R. Cagliani, L. Napoli, A. Berardinelli, M.G. D'Angelo, K. Gorni, S. Orcesi, C. Lamperti, E. Signaroldi, R. Tupler, N. Bresolin, M. Moggio, Comi G, A. Prelle (2008). Peculiar ultrastructural findings in congenital myopathies due to selenoprotein N1 gene new mutations. JOURNAL OF NEUROLOGY, ISSN: Pag. 156 di

86 267 Del Bo R., Ghezzi S., Corti S., Santoro D., Briani C., Mancuso M., Siciliano G., Fenoglio C., Scarpini E., Bresolin N., Comi G (2008). Progranulin Genotyping in 237 Sporadic Amyotrophic Lateral Sclerosis Patients. NEUROLOGY, ISSN: D. Santoro, S. Ghezzi, S. Corti, M.E. Fruguglietti, A. Prelle, M. Mancuso, G. Siciliano, C. Briani, N. Bresolin, G.P. Comi, R. Del Bo. (2008). Progranulin genetic variability is not associated to sporadic amyotrophic lateral sclerosis in Italian patients. JOURNAL OF NEUROLOGY, ISSN: D. Santoro, S. Ghezzi, S. Corti, M.E. Fruguglietti, A. Prelle, M. Mancuso, G. Siciliano, C. Briani, N. Bresolin, Comi G, R. Del Bo. (2008). Progranulin genetic variability is not associated to sporadic amyotrophic lateral sclerosis in Italian patients. JOURNAL OF NEUROLOGY, ISSN: F. Magri, R. Del Bo, S. Ghezzi, S. Tedeschi, M. G. D'Angelo, D. Coviello, A. Prelle, A. Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, Comi G (2008). Stop Codons, Duplications and Deletions of the Dystrophin Gene: Frequency and Clinical Follow- Up in 201 DMD Patients.. NEUROLOGY, ISSN: S. Corti, M. Nizzardo, M. Nardini, C. Donadoni, F. Fortunato, F. Saladino, N. Bresolin, G.P. Comi (2008). Transplantation of neural stem cells derived from murine embryonic stem cells ameliorates spinal muscular atrophy phenotype.. JOURNAL OF NEUROLOGY, ISSN: S. Corti, M. Nardini, M. Nizzardo, C. Donadoni, S. Salani, F. Fortunato, R. Del Bo, D. Papadimitriou, F. Locatelli, S. Strazzer, N. Bresolin, G.P. Comi (2008). Transplanted neural stem cell-derived motor neurons improve SMARD1 disease phenotype. JOURNAL OF NEUROLOGY, ISSN: S. Corti, M. Nardini, M. Nizzardo, C. Donadoni, S. Salani, F. Fortunato, R. Del Bo, D. Papadimitriou, F. Locatelli, S. Strazzer, N. Bresolin, Comi G (2008). Transplanted neural stem cellderived motor neurons improve SMARD1 disease phenotype.. JOURNAL OF NEUROLOGY, ISSN: Corti S., Nardini M., Nizzardo M., Donadoni C., Salani S., Fortunato F., Del Bo R., Papadimitriou D., Locatelli F., Strazzer S., Bresolin N., Comi G (2008). Transplanted neural stem cell-derived motor neurons improve SMARD1 disease phenotype. 18th Meeting of the European Neurological Society.. JOURNAL OF NEUROLOGY, ISSN: M. Nizzardo, S. Corti, M. Nardini, C. Donadoni, F. Fortunato, N. Bresolin, Comi G (2008). Trapianto di cellule staminali neuronali derivate da staminali embrionali (ES) come possibile strategia terapeutica per l Atrofia Muscolare Spinale.. BASIC AND APPLIED MYOLOGY, ISSN: S. Corti, M. Nizzardo, M. Nardini, C. Donadoni, F. Fortunato, N. Bresolin, G.P. Comi (2008). Treatment of spinal muscular atrophy by transplantation of embryonic (ES) derived neural stem cells. NEUROMUSCULAR DISORDERS, ISSN: S. Corti, M. Nizzardo, M. Nardini, C. Donadoni, F. Fortunato, N. Bresolin, Comi G (2008). Treatment of spinal muscular atrophy by transplantation of embryonic (ES) derived neural stem cells.. NEUROMUSCULAR DISORDERS, ISSN: Pag. 157 di

87 278 B. Borroni, S. Ghezzi, C. Agosti, S. Archetti, C. Fenoglio, D. Galimberti, E. Scarpini, M. Di Luca, N. Bresolin, G.P. Comi, A. Padovani, R. Del Bo (2008). Vascular Endothelial Growth Factor genetic variability confers susceptibility to frontotemporal lobar degeneration.. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, ISSN: V. Lucchini, M. Berardinelli, M. Carpanelli, M. Sciacco, A. Bordoni, D. Ronchi, E. Fassone, M. Servida, M. Pluderi, G.P. Comi, M. Moggio, N. Bresolin, C. Lamperti (2008). mtdna depletion in a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1 spinal muscular atrophy. JOURNAL OF NEUROLOGY, vol. 255, p. 73, ISSN: V. Lucchini, M. Berardinelli, M. Carpanelli, M. Sciacco, A. Bordoni, D. Ronchi, E. Fassone, M. Servida, M. Pluderi, Comi G, M. Moggio, N. Bresolin, C. Lamperti (2008). mtdna depletion in a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1 spinal muscular atrophy.. JOURNAL OF NEUROLOGY, ISSN: Lopez I.D., Scarlato M., Dacci P., De Toni F., Del Bo R., Cerri F., Quattrini A., Comi G, Fazio R. (2009). A case report of sensorimotor and autonomic neuropathy.. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN: Marchesi C, Pagliarani S, Savoiardo M, Morandi L, Salsano E, Bordoni A, Comi G, Pareyson D (2009). ADULT POLYGLUCOSAN BODY DISEASE AND FABRY DISEASE IN THE SAME PATIENT. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, vol. 14, p. 19, ISSN: G. Remiche, D. Ronchi, C. Lamperti, M. G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola, F. Magri, M. Moggio, N. Bresolin, G. P. Comi (2009). Adult Form Type II Glycogen Storage Disease in a Northern Italy Population: Phenotype Characterization, Early Diagnosis and Prognostic Determinants. NEUROLOGY, ISSN: D'Angelo MG, Romei M, Gandossini S, Bonato S, Colombo D, Marchi E, Lo Mauro A, Turconi AC, Comi G, Aliverti A, Bresolin N (2009). Bioengineering and muscular dystrophy. NEUROMUSCULAR DISORDERS, vol. 19, p. 572, ISSN: , doi: /j.nmd Marchesi C, Pagliarani S, Savoiardo M, Morandi L, Lucchiari S, Salsano E, Comi G, Pareyson D (2009). COEXISTENCE OF ADULT POLYGLUCOSAN BODY DISEASE AND FABRY DISEASE. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, vol. 14, p , ISSN: D'Angelo MG, Romei M, Gandossini S, Bonato S, Comi G, Colombo D, Turconi AC, Bresolin N, Aliverti A (2009). Clinical evaluation of muscular dystrophies: new tools from BioEngineering. JOURNAL OF NEUROLOGY, vol. 256, p. S26-S27, ISSN: Gandossini S, d'angelo MG, Bonato S, Comi G, Magri F, Moggio M, Sciacco M, Turconi AC, Sciorati C, Bresolin N, Clementi E (2009). Clinical trial using nitric oxide releasing drug and nonsteroidal antiinflammatory drugs in muscular dystrophy: Design of a study. NEUROMUSCULAR DISORDERS, vol. 19, p. 611, ISSN: , doi: /j.nmd Lucchini V, Napoli L, Crugnola V, Servida A, Ciscato P, Bordoni A, Ronchi D, Lerario A, Oldfors A, Prelle A, Bresolin N, Comi G, Moggio M, Torrente Y, Sciacco M (2009). Congenital Pag. 158 di myopathy with ptosis, ophthalmoplegia and muscle dystrophic changes: a possible sporadic case of

88 myosin heavy chain type IIa myopathy. JOURNAL OF NEUROLOGY, vol. 256, p. S131, ISSN: Carpo M, Saccomanno D, Bosseloir A, Ruisseau N, Bresolin N, Comi G (2009). DETECTION OF ANTI-GLYCOLIPID ANTIBODIES BY A DOT-BLOT ANALYSIS: COULD IT BE A VALID ALTERNATIVE? JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, vol. 14, p. 6, ISSN: Magri F, Del Bo R, Lamperti C, D'Angelo MG, Berardinelli A, Grimoldi N, Ghezzi S, Moggio M, Comi G (2009). De novo small duplication in Lamin A/C gene associated with congenital muscular dystrophy phenotype. JOURNAL OF NEUROLOGY, vol. 256, p. S132, ISSN: Santoro D, Ghione I, Corti S, Servida M, Prelle A, Bresolin N, Comi G (2009). Decline of ALS-FRS and Norris scale scores in a group of patients affected by ALS and treated with lithium. JOURNAL OF NEUROLOGY, vol. 256, p. S81-S82, ISSN: Crugnola V, Colombo I, Rossetti G, Grimoldi N, Ciscato P, Prelle A, Comi G, Bresolin N, Moggio M, Lamperti C (2009). Infantile inflammatory myopathy presenting as SMARD 1. NEUROMUSCULAR DISORDERS, vol. 19, p. 596, ISSN: , doi: /j.nmd Colombo I, Servida M, Bordoni A, Ciscato P, Prelle A, Comi G, Bassi MT, Parini B, Bassotti A, Valli M, Bresolin N, Moggio M, Sciacco M (2009). Mitochondrial, Ehlers-Danlos and CADASIL Features in the Same Family: A Genetic Puzzle or a New Disease Entity?. NEUROLOGY, vol. 72, p. A87, ISSN: Colombo I., Servida M., Bordoni A., Ciscato P., Prelle A., Comi G, Bassi M.T., Bassotti A., Valli M., Bresolin N., Moggio M., Sciacco M. (2009). Mitochondrial, Ehlers-Danlos and CADASIL features in the same family: a genetic puzzle or a new disease entità?. NEUROLOGY, ISSN: Magri F, Govoni A, D'Angelo MG, Del Bo R, Tedeschi S, Ghezzi S, Virgilio R, Bonato S, Gandossini S, Bordoni A, Corti S, Crugnola V, Prelle A, Lamperti C, Moggio M, Bresolin N, Comi G (2009). Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. JOURNAL OF NEUROLOGY, vol. 256, p. S132-S133, ISSN: Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Del Bo R, Papadimitriou D, Locatelli F, Bresolin N, Comi G (2009). Moto neuron transplantation rescues the phenotype of spinal muscular atrophy with respiratory distress type 1. JOURNAL OF NEUROLOGY, vol. 256, p. S82, ISSN: Corti S., Nizzardo M., Nardini M., Donadoni C., Salani S., Del Bo R., Papadimitriou D., Locatelli F., Bresolin N., Comi G (2009). Motoneuron transplantation rescues the phenotype of spinal muscular atrophy with respiratory distress type 1.. JOURNAL OF NEUROLOGY, ISSN: Corti S., Nizzardo M., Nardini M., Donadoni C., Del Bo R., Papadimitriou D., Locatelli F., Mezzina N., Bresolin N., Comi G (2009). Motoneurons transplantation with pharmacological Pag. 159 di

89 therapy to promote axonal elongation improves the phenotype of a model of Spinal Muscolar Atrophy with Respiratory Distress Type 1 (SMARD1).. NEUROLOGY, ISSN: Sansone V, Pagliarani S, Lucchiari S, Zanolini A, Fossati B, Panzeri MC, Comi G, Meola G (2009). Myotonia permanens with neonatal onset associated with a p.gly1306glu mutation in the SCN4A gene. JOURNAL OF NEUROLOGY, vol. 256, p. S27, ISSN: Corti S, Nizzardo M, Salani S, Nardini M, Donadoni C, Ronchi D, Simone C, Falcone M, Bresolin N, Comi G (2009). Neural stem cells derived from genetically engineered, lineageselectable ES cells improves the phenotype of a mouse model of spinal muscular atrophy. JOURNAL OF NEUROLOGY, vol. 256, p. S19, ISSN: Lucchiari S, Sansone V, Pagliarani S, Corti S, Magri F, Lamperti C, Raimondi M, D'Angelo MG, Bresolin N, Comi G, Meola G (2009). Novel CLCN1 gene mutations associated with Myotonia congenita in Italian patients. JOURNAL OF NEUROLOGY, vol. 256, p. S129, ISSN: Ronchi D, Raimondi M, Zecca C, Bordoni A, Corti S, Gobbi C, Comi G (2009). Novel homozygous mutation in SOD1 gene in a patient with familial amyotrophic lateral sclerosis. JOURNAL OF NEUROLOGY, vol. 256, p. S79-S80, ISSN: Pagliarani S., Marchesi C., Lamperti C., Lucchiari S., Morandi L., Salsano E., Savoiardo M., Bordoni A., Moggio M., Comi G, Pareyson. (2009). One gene, two clinical profiles:novel GBE1 mutations in GSD type IV and Adult Polyglucosan Body Disease.. NEUROLOGY, ISSN: Romei M, d'angelo MG, Gandossini S, Bonato S, Comi G, Colombo D, Marchi E, Lo Mauro A, Aliverti A, Bresolin N (2009). Optoelectronic plethysmography in respiratory assessment in Duchenne muscular dystrophy. NEUROMUSCULAR DISORDERS, vol. 19, p. 572, ISSN: , doi: /j.nmd Marchesi C, Pagliariani S, Lucchiari S, Morandi L, Salsano E, Savoiardo M, Bordoni A, Moggio M, Pareyson D, Comi G (2009). Phenotypic heterogeneity of GBE1 mutations: congenital glycogen storage disease type IV and adult polyglucosan body disease. JOURNAL OF NEUROLOGY, vol. 256, p. S157-S158, ISSN: Fenoglio C., Galimberti D., Martinelli-Boneschi F., Scalabrini D., Esposito F., De Riz M., Piccio L., Comi C., Pietroboni A., Piola M., Venturelli E., Cortini F., Villa C., Serpente M., Leone M., Bresolin N., Cross A., Comi G, Scarpini E. (2009). Progranulin genetic variability in primary progressive multiple sclerosis.. JOURNAL OF NEUROLOGY, ISSN: Sansone V.A., Lucchiari S., Zanolini A., Pagliarani S., Fossati B., Panzeri M., Corti S., Magri F., Bresolin N., Comi G, Meola G. (2009). Redefining clinical phenotype in a large color of Italian non-dystrophic myotonic patients.. NEUROLOGY, ISSN: Mazzone E.S., Messina S., Vasco G., Main M., Eagle M., D Amico A., Bruno C., Politano L., Berardinelli A., Mongini T., Pini A., Battini R., Comi G, Pegoraro E., Morandi L., Villanova M., Vita G., Bertini E., Mercuri E. (2009). Reliability of the north star ambulatory assessment in a multicentric setting.. NEUROMUSCULAR DISORDERS, ISSN: Pag. 160 di

90 308 Fruguglietti ME, Ciscato P, Napoli L, Sciacco M, Colombo I, Lamperti C, Serafini M, Grimoldi N, Comi G, Bresolin N, Moggio M, Prelle A (2009). Retrospective study of a population of patients affected by myofibrillar myopathies at muscle biopsy. JOURNAL OF NEUROLOGY, vol. 256, p. S130-S131, ISSN: Del Bo R, Ghezzi S, Corti S, Ranieri M, Santoro D, Ghione I, Pandolfo M, Prelle A, Soraru G, Briani C, Mancuso M, Siciliano G, Angelini C, Bresolin N, Comi G (2009). TARDBP gene mutations in 314 individuals with familial and sporadic ALS. JOURNAL OF NEUROLOGY, vol. 256, p. S82-S83, ISSN: R. Del Bo, S. Corti, M. Ranieri, S. Ghezzi, D. Santoro, I. Ghione, M. Pandolfo, G. Sorarù, C. Braini, M. Mancuso, G. Siciliano, N. Bresolin, G.P. Comi (2009). TARDBP genotyping in patients with Familial and sporadic ALS : identification of two novel mutations. NEUROLOGY, ISSN: Del Bo R., Corti S., Ranieri M., Ghezzi S., Santoro D., Ghione I., Pandolfo M., Sorarù G., Braini C., Mancuso M., Siciliano G., Bresolin N., Comi G (2009). TARDBP genotyping in patients with Familial and sporadic ALS: identification of two novel mutations.. NEUROLOGY, ISSN: R. Del Bo, S. Ghezzi, S. Corti, M. Ranieri, D. Santoro, I. Ghione, M. Pandolfo, A. Prelle, G. Soraru`, C. Briani, M. Mancuso, G. Siciliano, C. Angelini, N. Bresolin, G.P. Comi (2009). TARDPB gene mutations in 314 individuals with familial and sporadic ALS. JOURNAL OF NEUROLOGY, ISSN: Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Moggio M, Bresolin N, Ferrero I, Comi G (2009). The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with congenital cataract and COX deficiency. JOURNAL OF NEUROLOGY, vol. 256, p. S27-S28, ISSN: Corti S., Nizzardo M., Nardini M., Salani S., Donadoni C., Ronchi D., Papadimitriou D., Virgilio R., Bresolin N., Comi G (2009). Transplantation of neural stem cells derived from engineered ESC lineage (sox2-βgeo/oct4-tk cells) improves the phenotype of a mouse model of Spinal Muscular Atrophy.. NEUROLOGY, ISSN: Magri F, Govoni A, Del Bo R, Colombo I, Bresolin N, Comi G, Corti S (2010). A novel CHRNE gene mutation associated with congenital myasthenia: case report and review of the literature. JOURNAL OF NEUROLOGY, vol. 257, p. S167-S168, ISSN: Govoni A, Magri F, Del Bo R, Ghezzi S, Bordoni A, Fortunato F, D'angelo MG, Tedeschi S, Lucchini V, Moggio M, Comi G (2010). A novel intronic DYS gene mutation leading to a pseudoexon insertion in a DMD patient. JOURNAL OF NEUROLOGY, vol. 257, p. S168, ISSN: Ranieri M, Del Bo R, Corti S, Bordoni A, Mancarella G, Bresolin N, Comi G (2010). A splicing site OPA1 mutation associated with autosomal dominant optic atrophy in an Italian family. JOURNAL OF NEUROLOGY, vol. 257, p. S205, ISSN: Nizzardo M, Nardini M, Ronchi D, Salani S, Simone C, Falcone M, Donadoni C, Mezzina N, Pag. 161 di Gianni F, Bresolin N, Comi G, Corti SP (2010). Beta-Lactam Antibiotics Offer Neuroprotection in

91 a Spinal Muscular Atrophy Mouse Model by Multiple Mechanisms. NEUROLOGY, vol. 74, p. A332, ISSN: Valenza F, Pizzocri M, Salice V, Chevallard G, Fossali T, Coppola S, Froio S, Polli F, Conte G, Fortunato F, Comi G, Gattinoni L (2010). EFFECTS OF SODIUM BICARBONATE INFUSION ON BLOOD LACTATE LEVELS AND ACID-BASE STATUS IN A RAT MODEL OF TRANSIENT OR SUSTAINED MILD LACTIC ACIDEMIA. INTENSIVE CARE MEDICINE, vol. 36, p. S429, ISSN: A. Protti, A. Lecchi, F. Fortunato, F. Rosini, A. Artoni, N. Greppi, A. Gjoka, G. Mistraletti, G. Comi, L. Gattinoni (2010). Metformin increases platelet lactate production by inhibiting mitochondrial function. CRITICAL CARE, vol. Vol 14, p. S56-S57, ISSN: X, doi: /cc A. Protti, A. Lecchi, F. Fortunato, F. Rosini, A. Artoni, N. Greppi, A. Gjoka, G. Mistraletti, Comi G, L. Gattinoni (2010). Metformin increases platelet lactate production by inhibiting mitochondrial function. CRITICAL CARE, ISSN: Corti S, Magri F, Nizzardo M, Simone C, Falcone M, Salani S, Donadoni C, Nardini M, Riboldi G, Menozzi G, Bonaglia C, Rizzo F, Bresolin N, Comi G (2011). A model for motor neuron degeneration and treatment of Spinal Muscular Atrophy using human induced pluripotent stem cells. NEUROMUSCULAR DISORDERS, vol. 21, p. 686, ISSN: , doi: /j.nmd Ranieri M, Ronchi D, Orcesi S, Sparta V, Cosi A, Bordoni A, Lucchini V, Fortunato F, Fassone E, Rulfi G, Rizzuti M, Ripolone M, Sciacco M, Moggio M, Corti S, Savasta S, Berardinelli A, Veggiotti P, Comi G (2011). Clinical and genetical heterogeneity in a cohort of paediatric patients affected with mitochondrial disorders. JOURNAL OF NEUROLOGY, vol. 258, p. 60, ISSN: Govoni A, Magri F, Ghezzi S, Violano R, Colombo I, Scarlato M, Napoli L, Ciscato P, Sciacco M, Moggio M, Bresolin N, Corti S, Comi G (2011). Congenital myopathies: clinical, morphological and molecular findings in a sample of 29 Italian patients. JOURNAL OF NEUROLOGY, vol. 258, p , ISSN: Corti S., Nizzardo M., Simone C., Falcone M., Riboldi G., Nardini M., Donadoni C., Salani S., Papadimitriou D., Bresolin N., Comi G (2011). Directing Human Astrocytes into Neural Stem Cells and Neurons as Possible Tool for Repair in CNS Diseases.. NEUROLOGY, ISSN: Magri F., Del Bo R., D Angelo M.G., Gandossini S., Lucchini V., Govoni A., Napoli L., Corti S., Moggio M., Bresolin N., Comi G (2011). Frequency and characterization of anoctamin 5 mutations in Italian limb girdle muscular dystrophy patients.. ACTA MYOLOGICA, ISSN: Corti S., Nizzardo M., Nardini M., Simone C., Falcone M., Riboldi G., Donadoni C., Salani S., Menozzi G., Bonaglia C. Bresolin N., Comi G (2011). Generation of Motoneurons from Spinal Muscular Atrophy-Induced Pluripotent Stem Cells Free of Vector and Transgenic Sequences: In Vitro and In Vivo Analysis.. NEUROLOGY, ISSN: Riboldi G, Nizzardo M, Nardini M, Simone C, Falcone M, Ronchi D, Donadoni C, Salani S, Pag. 162 di Magri F, Bresolin N, Comi G, Corti S (2011). In vitro and in vivo analysis of motoneurons obtained

92 from human-spinal muscular atrophy-induced pluripotent stem cells free of vector and transgenic sequences. JOURNAL OF NEUROLOGY, vol. 258, p. 81, ISSN: Ripolone M., Lamperti C., Scionti I., Servida M., Govi M., Peverelli L., Ciscato P., Napoli L., Crugnola V., Del Bo R., Comi G, Sciacco M., Tupler R., Moggio M. (2011). Intrafamilial phenotype-genotype variability in FSHD.. ACTA MYOLOGICA, ISSN: Magri F, Del Bo R, D'Angelo MG, Gandossini S, Corti S, Lucchini V, Napoli L, Moggio M, Comi G (2011). LGMD2L in Italian population: New mutations and clinical and morphological aspects. NEUROMUSCULAR DISORDERS, vol. 21, p. 675, ISSN: , doi: /j.nmd D Angelo M.G., Lorusso M.L., Civati F., Comi G, Magri F., Del Bo R., Bonato S., Gandossini S., Turconi A.C., Bresolin N. (2011). Neurocognitive profile in Italian DMD children and gene mutation site.. ACTA MYOLOGICA, ISSN: Pagliarani S, Redaelli E, Magri F, Modoni A, Lecchi M, Lucchiari S, Scarlato M, Silvestri G, Sansone VA, Previtali S, Corti S, D'Amico A, Meola G, Lo Monaco M, Wanke E, Comi G (2011). New Mutations in SCN4A and Their Biophysical Properties. NEUROLOGY, vol. 76, p. A530, ISSN: S. Pagliarani, E. Redaelli, F. Magri, A. Modoni, M. Lecchi, S. Lucchiari, M. Scarlato, G. Silvestri, V. Sansone, S. Previtali, S.P. Corti, A. D Amico, G. Meola, M. Lo Monaco, E. Wanke, G.P. Comi (2011). New mutations in SCN4A and their biophysical properties. NEUROLOGY, vol. 76, p. A530, ISSN: Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Corti S, Castellotti B, Luciano B, Soraru G, Cereda C, Mazzini L, Ticozzi N, Gellera C, Comi G, Silani V (2011). Optineurin Gene Mutations in a Cohort of Italian Amyotrophic Lateral Sclerosis Patients. NEUROLOGY, vol. 76, p. A220, ISSN: Del Bo R., Corti S., Riboldi G., Ranieri M., Fenoglio C., Galimberti D., Scarpini E., Bresolin N, Comi G. C9ORF72 Hexanucleotide Repeat Expansion in a Cohort of Italian Patients Affected by Amyotrophic Lateral Sclerosis with and without Frontotemporal Dementia, 64th Annual Meeting of American Academy of Neurology, New Orleans, USA April 25, Neurology Corti S, Nizzardo M, Simone C, Falcone M, Nardini M, Ronchi D, Donadoni C, Salani S, Riboldi G, Menozzi G, Bonaglia C, Magri F, Bresolin N, Comi GP. Gene Corrected Spinal Muscular Atrophy-Induced Pluripotent Stem Cells and Motoneuron as a Model and Cell Source for Transplantation. 64th AAN annual meeting, New Orleans, April 21-28, Neurology, vol 78, April 25, 2012, IN Corti S, Nizzardo M, Simone C, Falcone M, Nardini M, Ronchi D, Donadoni C, Salani S, Riboldi G, Menozzi G, Bonaglia C, Magri F, Bresolin N, Comi GP. Gene Corrected Spinal Muscular Atrophy-Induced Pluripotent Stem Cells and Motoneuron as a Model and Cell Source for Transplantation. 64rd AAN annual meeting, New Orleans, April 21-28, Neurology, vol 78, April 24, 2012, P Nizzardo M., Simone C., Falcone M., Rizzo F., Salani S., Faravelli I., Zanetta C., Ruggieri M., Bresolin N., Comi G.P., Corti S. Unmodified and Octa-guanidine morpholino Restores SMN Pag. 163 di

93 Expression in CNS and Ameliorates phenotype in SMA Mice. FSMA Annual Meeting, Minneapolis, USA, June Riboldi G, Nizzardo M, Nardini M, Simone C, Falcone M, Ronchi D, Donadoni C, Salani S, Magri F, Rizzo F, Ranieri M, Govoni A, Faravelli I, Zanetta C, Bresolin N, Comi G, Corti S. Genetic correction of spinal muscular atrophy-induced pluripotent stem cells and motoneurons as a disease model and cell source for transplantation. 22nd Meeting of the European Neurological Society, Prague, June 9-12, Journal of Neurology, vol 259, suppl. 1, S138, Ranieri M, Ronchi D, Bordoni A, Rizzuti M, Moggio MG, Sciacco M, Govoni A, Riboldi G, Messina S, Silani V, Corti S, Bresolin N, Comi GP. CPEO due to mutations in the trna for isolucine: two additional Italian cases. 22nd Meeting of The European Neurological Society, Prague, June 9-12, Journal of Neurology, vol 259, suppl. 1, S184, Corti S., Nizzardo M., Simone C., Falcone M., Nardini M., Ronchi D., Donadoni C., Salani S., Riboldi G., Menozzi G., Bonaglia C., Rizzo F., Magri F., Bresolin N., Comi G. Targeted gene correction of spinal muscular atrophy induced pluripotent stem cells and motor neurons as a model and for cell therapy. SFN meeting, Oct Nizzardo M., Simone C., Falcone M., Rizzo F., Salani S., Faravelli I., Zanetta C, Ruggieri M., Bresolin N., Comi GP, Corti S. Unmodified and Octa-guanidine morpholino Restores SMN Expression in CNS and Ameliorates phenotype in SMA Mice. SFN meeting Oct Ronchi D., Vallejo D., Ripolone M., Melzi V., Fagiolari G., Lucchini V., Violano R., Bordoni A., Lamperti C., Villa L., Corti S., Balottin U., Bresolin N., Sciacco M., Berardinelli A., Moggio M., Comi G. Muscle cytochrome c oxidase defect and mitochondrial DNA depletion in spinal muscular atrophy. SFN meeting Oct Gellera C., Tiloca C., Del Bo R., Corrado L., Pensato V., Agostini J, Cereda C., Ratti A., Castellotti B., Corti S., Bagarotti A., Cagnin A., Milani P., Gabelli C., Riboldi G., Mazzini L., Sorarù G., D'Alfonso S., Taroni F., Comi G. P., Ticozzi N., Silani V.. Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. 62nd Annual Meeting of the American Society of Human Genetics, San Francisco Corti S, Nizzardo M, Simone C, Rizzo F, Ruggieri M, Salani S, Brajkovic S, Faravelli I, Zanetta C, Bresolin N, Comi GP. Transplantation of ipsds-derived Neural Stem Cells as Therapeutic Approach for Amyotrophic Lateral Sclerosis, 65th Annual Meeting of American Academy of Neurology, March 16 to March 23, Neurology Corti S, Nizzardo M, Simone C, Salani S, Rizzo F, Ruggieri M, Brajkovic S, Faravelli I, Zanetta C, Magri F, Bresolin N, Comi GP. Rescue of the Spinal Muscular Atrophy Phenotype in Mouse by Unmodified and Octa-Guanidine-Conjugated Morpholino Oligomers, 65th Annual Meeting of American Academy of Neurology, March 16 to March 23, Neurology Magri F, Del Bo R, Fortunato F, D Angelo MG, Govoni A, Brusa R, Brajkovic S, Corti S, Bresolin N, Moggio M, Comi GP. The Expanding Spectrum of LAMA2 Gene Mutations: From Congenital Muscular Dystrophy 1A to Limb Girdle Muscular Dystrophy 2R, 65th Annual Meeting of American Academy of Neurology, March 16 to March 23, Neurology Piga D, Ronchi D, Magri F, Corti S, Ghezzi S, Mercuri E, Bertini E, Toscano A, Moroni I, Moggio M, D'Angelo MG, Bruno C, Bresolin N, Comi GP. Next Generation Sequencing in the Analysis of an Italian Cohort of Patients Affected by Nemaline Myopathy, 65th Annual Meeting Pag. of 164 di American Academy of Neurology, March 16 to March 23, Neurology 2013.

94 349 Corti S and Hedlund E. Identification of oculomotor-restricted genes with motor neuron protective properties for the development of ALS therapeutics. TLF meeting 350 Corti S, Nizzardo M, Simone C, Rizzo F, Ruggieri M, Salani S, Brajkovic S, Faravelli I, Zanetta C, Bresolin N and Comi GP. ipscs-derived neural stem cells as a therapeutic approach for amyotrophic lateral sclerosis. ENCALS 2013 meeting. 351 Simone C., Ruggieri M., Nizzardo M., Rizzo F., Riboldi G., Salani S., Faravelli I., Zanetta C., Bresolin N., Comi G.P., Corti S. Genome editing strategies for the development of a therapy for SMA. FSMA 2013 meeting 352 Nizzardo M, Simone C, Salani S, Ruepp M, Rizzo F, Ruggieri M, Brajkovic S, Moulton H, Muehlemann O, Bresolin N, Comi GP, Corti S. Combined systemic and local morpholino treatment rescues the phenotype of SMA Δ7 mouse model. FSMA 2013 meeting 353 Ranieri M, Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferro MT, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP. Mutations in DNA2 cause progressive myopathy with mtdna instability. 23rd Meeting of The European Neurological Society, Barcelona June 8-11, Journal of Neurology, vol 260, suppl. 1, S246, Govoni A, Angelini C, Mongini T, Toscano A, Siciliano G, Tomelleri G, Mora M, Nigro V, Elena P, Musumeci O, Ricci G, Moroni I, Del Bo R, Brajkovic S, Fortunato F, Ronchi D, Riboldi G, Ranieri M, Corti S, Moggio M, Bresolin N, Magri F, Comi GP. The Italian limb girdle muscular dystrophies (LGMD) registry: molecular and clinical data. 23rd Meeting of The European Neurological Society, Barcelona June 8-11, Journal of Neurology, vol 260, suppl. 1, S246, Ronchi D, Di Fonzo A, Bordoni A, Rizzuti M, Melzi V, Corti S, Sciacco M, Moggio M, Bresolin N, Comi GP. Heterogeneous genetic landscape in Italian patients affected by adult onset mitochondrial disorders featuring muscle mtdna instability. Mitochondrial Disease: Translating biology into new treatments. Cambridge (UK), Octotber 2-4, Corti S, Nizzardo M, Simone C, Rizzo F, Ruggieri M, Salani S, Faravelli I, Zanetta C, Riboldi G, Brajkovic S, Bresolin N, Comi GP. Amyotrophic lateral sclerosis: new therapeutic perspectives offered by ipscs-derived neural stem cells. Alsmnd meeting 2013; 357 Ruggieri M, Simone C, Nizzardo M, Rizzo F, Riboldi G, Salani S, Faravelli I, Zanetta C, Bresolin N, Comi GP, Corti S. Targeted Genome Editing for developing novel therapeutic approaches for SMA. Alsmnd meeting 2013; 358 Ruggieri M, Simone C, Nizzardo M, Rizzo F, Riboldi G, Salani S, Zanetta C, Faravelli I, Bresolin N, Comi GP, Corti S Genome editing strategies for the development of a treatment for SMA SFN Rizzo F, Nizzardo M, Simone C, Ruggieri M, Salani S, Faravelli I, Zanetta C, Bresolin N, Comi GP, Corti S. ipscs-derived neural stem cells transplantation as therapeutic strategy for amyotrophic lateral sclerosis. SFN Monica Nizzardo, Chiara Simone, Federica Rizzo, Monica Bucchia, Sara Dametti, Agnese Ramirez, Stefania Corti, ALS therapy via transplantation of an ipsc-derived LeX+CXCR4+VLA4+ Pag. 165 di neural stem cell subpopulation, ENCALS meeting Leuven 2014

95 361 Monica Nizzardo, Federica Rizzo; Chiara Simone; Margherita Ruggieri; Sabrina Salani; Monica Bucchia; Agnese Ramirez, Chiara Zanetta, Nereo Bresolin; Giacomo Comi; Stefania Corti; Amelioration of spinal muscular atrophy phenotype by RNA therapy inducing SMN increase or modulation of secondary cell death events. Families of SMA Washington Chiara Simone, Monica Nizzardo, Federica Rizzo, Margherita Ruggieri, Giulietta Riboldi, Sabrina Salani, Monica Bucchia, Sara Dametti, Agnese Ramirez, Gianna Ulzi, Paola Rinchetti, Francesca Porro, Nereo Bresolin, Giacomo P. Comi and Stefania Corti ipsc-derived neural stem cells act via kinasein hibition to exert neuroprotective effects in SMARD1submitted to SFN 2014 Pag. 166 di

96 Lavori pubblicati come Abstracts a congressi nazionali: 1. Bresolin N., Moggio M., Bet L., Pellegrini G., Comi G., Jann S., Scarlato G. Mitochondrial myopathy with Complex I deficiency. 23rd Annual Meeting of the Italian Neurolopathological Association, Padova, Italy, June 4-6, The Italian Journal of Neurological Sciences, Vol. 8, 2, Palmucci L., Doriguzzi C., Mongini T., Gagliano A., Comi G., Bet L., Bresolin N. Thyroid agenesis and hypogonadism in progressive external ophthalmoplegia with mitochondrial changes. 23rd Annual Meeting of the Italian Neuropathological Association, Padova, Italy, June 4-6, The Italian Journal of Neurological Sciences, Vol. 8, 2, Comi G., Bresolin N., Bossoni G., Ratti E., Bet L., Baggio A., Scarlato G. Acetyl-L-Carnitine improves the oxidative metabolism of the brain in old rats. 23rd Annual Meeting of the Italian Neuropathological Association, Padova, Italy, June 4-6, The Italian Journal of Neurological Sciences, Vol. 8, 2, Bresolin N., Bet L., Meola G., Moggio M., Adobbati L.,Comi G., Martucci G., Fortunato F., Gilardi A., Scarlato G. Expression of a new human muscle defect, Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD), in tissue culture. II Congresso Nazionale della Federazione Italiana per lo Studio delle Malattie Ereditarie (FISME), Patologia genetica ad esordio tardivo. Siena ottobre Comi G., Bresolin N., Bossoni G., Ratti E., Bet L., GirelliM., Baggio A., Scarlato G. Studio biochimico e polarografico sull'invecchiamento cerebrale in ratti trattati con L- Acetil Carnitina. XXV Congresso Nazionale della Societa' Italiana di Neurologia. Atti, 195. Bologna, 30 novembre-3 dicembre Bresolin N., Bet L., Moggio M., Meola G., Comi G., Gilardi A., Cassi E., Scarlato G. Deficit di Glucosio 6 Fosfato Deidrogenasi nel muscolo: un nuovo difetto enzimatico. XXV Congresso Nazionale della Societa' Italiana di Neurologia. Atti, 281. Bologna, 30 novembre-3 dicembre Moggio M., Bresolin N., Bet L., Binda A., Carenzi A., Comi G., Scarlato G. Miglioramento cardiaco dopo trattamento con Coenzima Q in pazienti con miopatia mitocondriale e Kearns-Sayre Syndrome. XXV Congresso Nazionale della Societa' Italiana di Neurologia. Atti, 384. Bologna, 30 novembre-3 dicembre Pag. 167 di

97 8. Bet L., Bresolin N., Moggio M., Comi G., Adobbati L., Scarlato G. Approccio biochimico-morfologico di una miopatia mitocondriale con deficit di complesso I. XXV Congresso Nazionale della Societa' Italiana di Neurologia. Atti, 378. Bologna, 30 novembre -3 dicembre G. Comi, S.Pifferi, G.Meola, C.Ausenda, N.Bresolin Deficienza muscolare di Galattosio -1- fosfato uridil transferasi. V Congresso Nazionale FISME (Federazione Italiana per lo studio delle malattie ereditarie). Perugia Ottobre pg N. Bresolin, E. Castelli, G. Comi, D. Perani, A. Turconi, P. Fraschini, S. Pifferi, D. Gallotti, E. Marchi, R. Garghentino, G. Moretti, G. Scarlato. Mental retardation in DMD: neuropsychological, genetic and NMR-PET correlations. XXVII Congresso Associazione Italiana di Neuropatologia. Taormina-Messina Maggio Clinical Neuropathology, 10, 3, A. Gallanti, A. Prelle, P. Ciscato, G. Fagiolari, N. Checcarelli, M, Sciacco, A. Comini, G. Comi, S. Pifferi, M. Moggio, G. Scarlato. Retrospective study of neuromuscular patients using anti-dystrophin antibodies. XXVII Congresso Associazione Italiana di Neuropatologia. Taormina-Messina Maggio Clinical Neuropathology, 10, 3, C. Mariani, E. Farina, E. Calabrese, S. Pifferi, G. Comi, N. Bresolin, G. Meola, G. Rotondo, G. Scarlato. Muscle culture in Alzheimer's diseases: biochemical findings. XXVII Congresso Associazione Italiana di Neuropatologia. Taormina-Messina Maggio Clinical Neuropathology, 10, 3, Chianese L., A. Prelle, A. Gallanti, P. Ciscato, N. Checcarelli, M. Sciacco, G. Comi, S. Pifferi, E. Scarpini, M. Moggio, G. Scarlato. Progressive expression of dystrophin in normal human fetal muscle. XXVII Congresso Associazione Italiana di Neuropatologia.Taormina-Messina Maggio Clinical Neuropathology, 10,147, Comi G.P., N. Bresolin, A. Prelle, S. Pifferi, F. Fortunato, A. Gallanti, G. Scarlato. Hereditary quadriceps myopathy with normal dystrophin morphology. XXVII Congresso Associazione Italiana di Neuropatologia.Taormina-Messina Maggio Clinical Neuropathology, 10, Comi G.P., Turconi A, Perani D., Castelli E., Garghentino R., Fraschini P, Baraldi E, Bresolin N, Scarlato G. Distrofia muscolare di Becker con deficit neuropsicologici multipli: correlazioni genetiche, morfologiche, RMN e PET. Federazione Italiana per lo Studio delle Malattie Ereditarie. Pag. 168 di

98 VI Congresso Nazionale. Atti (Monduzzi ed., Bologna), , Castelli E., Bresolin N., Comi G.P., Turconi A., Fraschini P., Garghentino R., Moretti G, Scarlato G. Il ritardo mentale nella Distrofia Muscolare di Duchenne. Federazione Italiana per lo Studio delle Malattie Ereditarie. VI Congresso Nazionale. Atti (Monduzzi ed., Bologna), , Bresolin N., Castelli E., Comi G., Perani D., Turconi A., Baraldi E., Scarlato G. Multidisciplinary approaches to Duchenne Muscular Dystrophy (DMD) patients: an original protocol. XXVII National Congress of the Italian Neurological Society. Italian J Neurol Sci, Suppl 12, 23, Calabrese E., Comi G., Rotondo G., Velicogna M., Meola G., Bresolin N., Scarlato G. Mariani C. Muscle cultures in Alzheimer's diseases: biochemical and morphological findings. XXVII National Congress of the Italian Neurological Society. Italian J Neurol Sci, Suppl 12, 46, Gabellini A.S., Lodi R., De Massis P., Bresolin N., Comi G.P., Fedeli F., Mariani M., Zaniol P., Barbiroli B., Sacquegna T. Familial ptosis with reduced muscle and brain mitochondrial function. XXVII National Congress of the Italian Neurological Society. Italian J Neurol Sci, Suppl 12, 72, Turconi A., Bresolin N., Fraschini F., Comi G.P., Baraldi E., Crimella G.L. Is physiotherapic treatment useful in Duchenne Muscular Dystrophy? XXVII National Congress of the Italian Neurological Society. Italian J Neurol Sci, Suppl 12, 77, Ravasio A., Piscaglia M.G., Bresolin N., Pasquinelli M., Moggio M., Comi G., Lorusso S., Curro' Dossi B. Multiple deletions of the mitochondrial genome in an autosomal dominant inherited chronic progressive ophthalmoplegia. XXVII National Congress of the Italian Neurological Society. Italian J Neurol Sci, Suppl 12, 62, Calabrese SE., Pifferi S., Farina E., Rotondo G., Comi G. Malattia di Alzheimer: studio morfologico e biochimico in mioblasti in coltura. Societa' Italiana di Neuroscienze. II Convegno Nazionale Giovani Cultori delle Neuroscienze. Firenze, novembre. Atti, N.Bresolin, P.Amati, G.P. Comi, S.Sorbi, I.Moroni, L.Amaducci, G. Scarlato. Delezioni del DNA mitocondriale in tessuto cerebrale e muscolare nell'invecchiamento e nella malattia di Alzheimer. pg.108 Consiglio Nazionale delle Ricerche. Progetto Finalizzato Invecchiamento. I Convegno Nazionale Roma Gennaio 1992 Pag. 169 di

99 24. Fraschini P., R. Garghentino, C. Turconi, E. Castelli, E. Marchi, N. Bresolin, G. Comi. Standardizzazione e monitoraggio riabilitativo inter-disciplinare nella distrofia muscolare Duchenne con l'ausilio informatico. I Meeting Regionale di Medicina Fisica e Riabilitazione, S.I.M.F.E.R. Societa' Italiana di Medicina Fisica e Riabilitazione, Gruppo Regionale Lombardia. Gardone Riviera, aprile 1992 In: La Riabilitazione: Identita' e prospettive. Atti, pg N.Bresolin, G.P.Comi, P.Ninfali, G.Meola, G. Scarlato. Muscular G6PD deficiency: a definite clinical syndrome? 28th Annual Meeting of the Italian Neuropathological Association May 21-23, 1992 Sabaudia. Clinical neuropathology, 11, 2, pg. 89, E.Castelli, N.Bresolin, A.Turconi, G.P. Comi, G.Moretti Mental Retardation in Duchenne muscular dystrophy. 28th Annual Meeting of the Italian Neuropathological Association May 21-23, 1992 Sabaudia. Clinical neuropathology, 11, 2, pg. 90, N.Checcarelli, A.Prelle, M. Moggio, G.Comi, A.Bordoni, N.Bresolin. Hypokalemic periodic paralysis with alterations of mitochondrial DNA. 28th Annual Meeting of the Italian Neuropathological Association May 21-23, 1992 Sabaudia. Clinical neuropathology, 11, 2, pg. 91, M.T. Ferro', G. Vita, A. Toscano, G. Comi, F. Fortunato, N. Bresolin, A. Fiunara, R. Falsaperla, F.A. Saad, G.A. Danieli., C. Messina. Duplication of dystrophin gene and clinical involvement of intermediate type. 28th Annual Meeting of the Italian Neuropathological Association May 21-23, 1992 Sabaudia. Clinical neuropathology, 11, 2, pg , G.P. Comi, N.Bresolin, P. Amati, S.Sorbi, A.Fassati, L.Amaducci, C.Mariani, G.Scarlato. Mitochondrial DNA deletions in muscle and brain tissues in ageing and in Alzheimer disease. 28th Annual Meeting of the Italian Neuropathological Association May 21-23, 1992 Sabaudia. Clinical neuropathology, 11, 2, pg. 91, A.Gallanti, G. Comi, A.Prelle, P.Ciscato N.Bresolin, G.Scarlato. Congenital myopathy with accumulation of desmin and dystrophin. 28th Annual Meeting of the Italian Neuropathological Association, May 21-23, 1992, Sabaudia. Clinical neuropathology, 11, 2, pg. 93, G.P. Comi, N. Bresolin, A. Fassati, L. Amaducci, S. Sorbi,G. Scarlato. "Common deletion" del DNA mitocondriale nell'invecchiamento e nella Malattia di Alzheimer Pag. 170 di

100 37 o Congresso Nazionale della Societa' Italiana di Gerontologia e Geriatria. 8/11 Novembre 1992, Milano. Giornale di Gerontologia, Vol 40 (11), pg , N Bresolin, F Mazzucchelli, M Velicogna, MG D'Angelo, GP Comi, F Fortunato, I Moroni. Ageing: analisi dei parametri di cinetica cellulare e studio biochimico mitocondriale in cloni miogenici umani II Convegno Nazionale CNR, Roma Maggio G. Ciucci, A.R. Guidi, A. Prelle, G.P. Comi, N. Bresolin, C.A. Tassinari, G.C. Rebucci. Encefalomiopatia tipo MELAS: descrizione di un caso. XXXIII Congresso Nazionale Societa' dei Neurologi, Neurochirurghi e Neuroradiologi Ospedalieri (S.N.O.). Vasto Marina, Maggio Raccolta degli Abstracts. 34. M.G. Piscaglia, A. Ravasio, M. Pasquinelli, C. Cifarisi, G.P. Comi, N. Bresolin, B. Curro' Dossi. Tre casi di epilessia in una famiglia con oftalmoplegia cronica progressiva. XXXIII Congresso Nazionale Societa' dei Neurologi, Neurochirurghi e Neuroradiologi Ospedalieri (S.N.O.). Vasto Marina, Maggio Raccolta degli Abstracts. 35. A. Ravasio, M.G. Piscaglia, M. Pasquinelli, C. Cifarisi, N. Bresolin, G.P. Comi, B. Curro' Dossi. Encefalomiopatie mitocondriali: casi familiari e casi sporadici osservati presso la divisione di Neurologia di Rimini. XXXIII Congresso Nazionale Societa' dei Neurologi, Neurochirurghi e Neuroradiologi Ospedalieri (S.N.O.). Vasto Marina, Maggio Raccolta degli Abstracts. 36. N.Bresolin, GP Comi, A.Fassati, G.Scarlato. Mitocondrial DNA mutations and ageing. European Journal of Histochemistry 37 suppl 1993 Congresso Nazionale della Societa' italiana di istochimica. Taormina Maggio Bresolin N, Amati P, Comi GP, Sorbi S, Moroni I, Amaducci L. Delezioni del DNA mitocondriale in tessuto cerebrale e muscolare nell'invecchiamento e nella malattia di Alzheimer. Consiglio Nazionale delle Ricerche. Progetto Finalizzato Invecchiamento. II Convegno Nazionale. Roma 27/28/29 Maggio L. Bet, N. Checcarelli, M. Moggio, A. Prelle, E. Scarpini, P. Bazzi, S. Messina, C. Mariani, A. Bordoni, G. Comi, G. Scarlato. Mitochondrial myopathy associated with definite multiple sclerosis. Pag. 171 di

101 29th Annual Meeting of the Italian Neuropathological Association. Verona, June 17-19, Clinical Neuropathology, Vol 12, Supplement 1, pg S N. Checcarelli, A. Prelle, M. Moggio, G. Fagiolari, A., Battistel, P. Bazzi, S. Messina, A. Bordoni, G. Comi, P. Amboni, G. Scarlato. Mitochondrial myopathy: pathogenesis of the oxidative defect. 29th Annual Meeting of the Italian Neuropathological Association. Verona, June 17-19, Clinical Neuropathology, Vol 12, Supplement 1, pg S F. Mazzucchelli, M.G. D'Angelo, N. Bresolin, G.P. Comi, N. Fonzi, M. Velicogna, M. Moggio, M.T. Ramacci, S. Rapuzzi, G. Scarlato. Effects of zidovudine on massive human muscle cultures: morphology, genetics and biochemistry. 29th Annual Meeting of the Italian Neuropathological Association. Verona, June 17-19, Clinical Neuropathology, Vol 12, Supplement 1, pg S I Moroni, EF Gonano, V Tegazzin, GP Comi, P Amboni, N Bresolin, G Scarlato. C1840->T point mutation in the RYR gene in a family susceptible for malignant hyperthermia 29th Annual Meeting of the Italian Neuropathological Association. Verona, June 17-19, Clinical Neuropathology, Vol 12, Supplement 1, pg S A. Prelle, M. Moggio, N. Bresolin N, P. Comi, N. Checcarelli, A. Gallanti, C. Rigoletto, A. Bordoni, G. Scarlato. Atypical mitochondrial encephalomyopathies associated with multiple deletions of mitochondrial DNA. 9th Annual Meeting of the Italian Neuropathological Association. Verona, June 17-19, Clinical Neuropathology, Vol 12, Supplement 1, pg S N.Bresolin, Comi GP, Mazzucchelli, Prelle A,Scarlato G. Eterogeneita' fenotipica delle mitocondriopatie. III Congresso Nazionale di cardioneurologia. Pavia Prevenzione Cardiovascolare pg 87, Ottobre A. Bardoni, G.P. Comi, A. Prelle, N. Bresolin, M. Moggio, G. Vita, A. Toscano, G. Felisari, E. Castelli, G. Scarlato. Clinical variability in Becker muscular dystrophy (BMD): genetic, biochemical and immunohistochemical correlates. XXVIII National Congress of the Italian Neurological Society. Firenze 2-6 novembre The Italian Journal of Neurological Sciences, 7, Supplement 14, pg. 7, E. Castelli, N. Bresolin, G. Comi, A. Turconi, M. Moggio. Cognitive deficits of Duchenne Muscular Dystrophy carriers and their affected sons: a direct correlation. Pag. 172 di

102 XXVIII National Congress of the Italian Neurological Society. Firenze 2-6 novembre The Italian Journal of Neurological Sciences, 7, Supplement 14, pg. 48, E.F. Gonano, I. Moroni, N. Bresolin, G.P. Comi, S. Rapuzzi,G. Scarlato. Anaesthetic-induced rhabdomyolisis: MH-like reaction? XXVIII National Congress of the Italian Neurological Society. Firenze 2-6 novembre The Italian Journal of Neurological Sciences, 7, Supplement 14, pg. 51, Rigoletto C., Prelle A., Moggio M., Ciscato P., Comi P., Bardoni A., Scarlato G. Expression of dystrophin positive fibers in Duchenne Muscular Dystrophy. XXVIII National Congress of the Italian Neurological Society. Firenze 2-6 novembre The Italian Journal of Neurological Sciences, 7, Supplement 14, pg. 57, Mazzucchelli F, Bresolin N., D'Angelo M.G:, Velicogna M., Comi G.P., Amboni P., Scarlato G. Ageing: mitochondria modifications may represent one causative factor? XXVIII National Congress of the Italian Neurological Society. Firenze 2-6 novembre The Italian Journal of Neurological Sciences, 7, Supplement 14, pg. 93, A.Bardoni, E.Ciafaloni, G.P. Comi, N.Bresolin, M.Robotti, A.Roses Frame-restoring mechanism at the mrna level in a Becker muscular dystrophy patient with out-of-frame deletion. 30th meeting of the Italian Neuropathological Association. Saint Vincent (Aosta) 29 Giugno Clinical neuropathology, 13, 143, A.Battistel, G.Comi, A.Prelle, M.Moggio, N.Bresolin, G.Scarlato MELAS mutation at position 3243 of mtdna in a progressive external ophthalmoplegia (PEO) family. 30th meeting of the Italian Neuropathological Association. Saint Vincent (Aosta) 29 Giugno 1994 pg G.P.Comi, E.Ciafaloni, A.Bardoni, N.Bresolin, M.Moggio, G.Scarlato Absence of muscle and nerve specific dystrophin isoforms in a congenital myopathy patient. 30th meeting of the Italian Neuropathological Association. Saint Vincent (Aosta) 29 Giugno 1994 pg 148. Clinical neuropathology, 13, 143, I.Moroni, E.F. Gonano, G.P. Comi, N.Bresolin, G.Scarlato The ryanodine gene in central core disease and malignant hyperthermia. 30th meeting of the Italian Neuropathological Association. Saint Vincent (Aosta) 29 Giugno Clinical neuropathology, 13, 160, V.Sansone, G.Rotondo, G.Comi, N.Bresolin, G.Meola. Pag. 173 di

103 Clinical variability and age-related mtdna muscle lesions in mitochondrial dysfunction associated with multiple lipomatosis. 30th meeting of the Italian Neuropathological Association. Saint Vincent (Aosta) 29 Giugno Clinical neuropathology, 13, 165, G.Felisari, E.Castelli, G. Comi, N.Bresolin, et al. Dallo studio neuropsicologico e PET nella distrofia muscolare di Duchenne all'ipotesi sul ruolo del cervelletto nei processi cognitivi. Riunione della Societa' Italiana di Neuroscienze.Bosisio Parini 15 Ottobre E.Gonano, I.Moroni, G. Comi, N.Bresolin. Procedure Diagnostiche per l'accertamento di suscettibilita' ad ipertermia maligna : test in vitro con caffeina ed alotano e indagini molecolari. Riunione della Societa' Italiana di Neuroscienze.Bosisio Parini 15 Ottobre Ausenda C., D'Angelo M., Gallanti A., Del Bo R., De Liso A., Comi G.P., Bresolin N., Scarlato G. Forced MyoD Expression trans-activates physiological promoters driving the expression of a reporter gene: a potential approach to myoblast mediated gene transfer. XXXI Congress of the Italian Association of Neuropathology, Pavia June Neuropathology and Applied Neurobiology, 21 (S 1), 33, D'Angelo M.G., Ausenda C.D., Nesti S., Bordoni A., Mazzucchelli F., Comi G., Bresolin N., Scarlato G. 5' aza-cytidine treatment of permanently transformed myogenic cell lines is effective in enhancing the exogenous gene expression. XXXI Congress of the Italian Association of Neuropathology, Pavia June Neuropathology and Applied Neurobiology, 21 (S 1), 39-40, Del Bo R., Bresolin N., Castelli E., Ausenda C., Comi G.P., Conti E., Poggi G., Felisari G. Apolipoprotein E polymorphism and Down's syndrome XXXI Congress of the Italian Association of Neuropathology, Pavia June Neuropathology and Applied Neurobiology, 21 (S 1), 40, Mazzucchelli F., Ausenda C.D., Del Bo R., D'Angelo M.G., Comi G.P., Bordoni A., Bresolin N., Scarlato G. AZT treatment of fetal rat neuronal cell cultures did not show any alteration of mitochondrial DNA replication mechanism but the transcription and the translation processes were inhibited. XXXI Congress of the Italian Association of Neuropathology, Pavia June Neuropathology and Applied Neurobiology, 21 (S 1), 51, 1995 Pag. 174 di

104 60. Ausenda C.D., Cattaneo E., D'Angelo M.G., Del Bo R., Perini M.P., Torrente Y., Nesti S., Conti L., Comi G.P., Govoni S., Bresolin N., Scarlato G. Cultured neural tissue is efficiently transfected by biolistic technique. 32nd Annual Meeting of the Italian Neuropathological Association. Parma, June 3-5, 1996 Clinical Neuropathology, 15, 163, Battistel A., Sciacco M., Prelle A., Comi G.P., Moggio M., Fagiolari G., Checcarelli A., Toscano A., Papadimitriou A., Scarlato G. Clinical, morphological, biochemical and molecular genetic evaluation of a large population of patients affected with mitochondrial encephalomyopathy. 32nd Annual Meeting of the Italian Neuropathological Association. Parma, June 3-5, 1996 Clinical Neuropathology, 15, 165, Bresolin N., Ausenda C.D., De Liso A., Torrente Y., D'Angelo M.G:, Gerundini P., Bruno A., Ciscato P., Moggio M., Comi G.P. Scarlato G. Intra-arterial injection of myoblasts in MDX dystrophic mouse 32nd Annual Meeting of the Italian Neuropathological Association. Parma, June 3-5, 1996 Clinical Neuropathology, 15, 166, Comi G.P., Carpo M., Nobile-Orazio E., Rizzi C., Del Bo R., Battistel A. Scarlato G. PROMM syndrome without trinucleotide expansion. 32nd Annual Meeting of the Italian Neuropathological Association. Parma, June 3-5, 1996 Clinical Neuropathology, 15, 168, Rigoletto C., Comi G.P., Bresolin N., Prelle A., Bignotti V., Turconi A., Felisari G., Ciscato P., Salani S., Scarlato G. Partial merosin deficiency in an atypical case of congenital muscular dystrophy. 32nd Annual Meeting of the Italian Neuropathological Association. Parma, June 3-5, 1996 Clinical Neuropathology, 15, , Checcarelli N, Beretta S, Spatat M, Orsenigo G, Comi G, Frattini T, Pleiomorfismo fenotipico in un caso di encefalomiopatia mitocondriale con mutazione puntiforme nt3243 del trna leu mtdna. Atti dell'8 Convegno della Sezione Lombarda della Societa' Italiana di Neurologia (SIN). Castellanza, 12 aprile Pag. 115, A.Papadimitriou, G.M.Hadjigeorgiou, A.Patrikiou, R.Divari, F.Fortunato, G.P.Comi. Congenital Muscular Dystrophy with Leucoencephalopathy and Merosin Deficiency Department of Neurology,Red Cross Hospital,Athens,Greece. Department of Neurology,University of Milano,Italy 15th Panhellenic Neurological Congress. Neurologia 1997;6(3): Ausenda CD, D'Angelo MG, Giorda R, Del Bo R, Perini MP, Colucci M, Bordoni A, Comi GP, Bresolin N, Scarlato G. Pag. 175 di

105 Towards the development of autologous transplant of myoblasts by tetracycline modulation of myogenesis 33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997 Clinical Neuropathology, 16, 148, Baldessari S, Ausenda CD, D'Angelo MG, Sironi M, Ciscato P, Perini MP, Corti S, Comi GP, Moggio M, Bresolin N, Scarlato G. Towards the development of a gene therapy for mitochondrial diseases. 33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997 Clinical Neuropathology, 16, 148, GP Comi, A Bordoni, S Salani, L Franceschina, M Sciacco, N. Bresolin, F Fortunato, M Zeviani, CD Ausenda, L Napoli, M Moggio, J-W Taanman, Guglielmo Scarlato. Out-of-frame heteroplasmic microdeletion of cytochrome c oxidase subunit I gene in a patient with muscle COX deficiency and motor neuron disease 33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997 Clinical Neuropathology, 16, 152, Franceschina L, Salani S, Bordoni A, Comi GP, Sciacco M, Hadjigeorgiou GM, Napoli L, Ausenda C, Bresolin N, Scarlato G. Search for rare mitochondrial DNA mutations by heteroduplex analysis in mitochondrial myopathy patients. 33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997 Clinical Neuropathology, 16, 155, Martinelli F, Felisari G, Turconi A, Comi GP, Robotti M, Ausenda CD, Bresolun N, Scarlato G. Genetic and clinical aspects of 70 patients affected by Duchenne muscular dystrophy. 33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997 Clinical Neuropathology, 16, 159, Rodolico C, Toscano A, Celi MC, Agennouz M, Migliorato A, Bonsignore M, Tortorella G, Blandino A, Comi GP, Franceschina S, Salani F, Guzzetta F, Vita G. Clinical heterogeneity in three siblings with selective cerebellar vermis atrophy and cytochrome c oxidase deficiency. 33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997 Clinical Neuropathology, 16, 159, Sciacco M, Prelle A, Napoli L, Comi GP, Bresolin N, Toscano A, Papadimitriou A, Moggio M, Scarlato G. Retrospective study of a large population of patients affected with mitochondrial encephalomyopathies: single-fiber PCR study on a group of genetically undiagnosed patients. 33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997 Clinical Neuropathology, 16, 166, Tancredi L, Prelle A, Rigoletto C, Comi GP, Ciscato P, Fortunato F, Nesti S, Felisari G, Scarlato G. Sarcoglycanopathies: frequency and clinico-genetic correlations in a large population of myopathic patients. 33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997 Pag. 176 di

106 Clinical Neuropathology, 16, 170, Torrente Y, Bresolin N, Ausenda CD, De Liso A, D'Angelo MG, Casati R, Benti S, Corti S, Comi G, Scarlato G. Extracorporeal circulation of myogenic cells of myogenic cells opens new perspectives in DMD gene therapy. 33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997 Clinical Neuropathology, 16, 171, Comi GP, Hadjigeorgiou Y, Franceschina L, Bordoni A, Salani S, Nesti S, Toscano A, Rodolico C, Piscaglia MG, Prelle A, Mantegazza R, Bertagnolio B, Shen J, Chen YT, Papadimitriou A, Bresolin N, Scarlato G. Mutation analysis of Glycogen debrancher Enzyme gene in Glycogen Storage Disease type IIIa patients. 34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3 June 1998 Clinical Neuropathology, 17, 151, Corti S, Bordoni A, Comi GP, Bresolin N, Toscano A, Agennouz M, Tancredi L, Moggio M, Scarlato G. Mutation analysis of carnitine palmytoiltransferase (CPT) II gene in patients with decreased muscle CPT activity. 34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3 June 1998 Clinical Neuropathology, 17, 151, Corti S, D'Angelo MG, colucci M, Torrente Y, Larovere A, Perini MP, Salani S, Sironi M, Comi GP, Bresolin N, Scarlato G. Myoblast transendothelial migration: an in vitro assay. 34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3 June 1998 Clinical Neuropathology, 17, 151, D'Angelo MG, Torrente Y, Corti S, Colucci M, del Bo R, Basso V, Strazzer S, DeLiso A, Comi GP, Bresolin N, Scarlato G The myogenic potential of somite-derived cell lines: new perspectives in myoblast mediated gene therapy of Duchenne Muscular Dystrophy.. 34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3 June 1998 Clinical Neuropathology, 17, 152, Perini MP, Strazzer S, Bresolin N, Felisari G, Bordoni A, Moggio M, D'Angelo MG, Comi GP, Scarlato G. Muscle partial COX deficiency in Usher type 2 phenotype 34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3 June 1998 Clinical Neuropathology, 17, 163, 1998 Pag. 177 di

107 81. Prelle A, Battistel A, Tancredi L, Sciacco M, Comi GP, Ciscato P, Bordoni A, Fortunato F, Colucci M, Paganoni S, Fagiolari G, Conti E, Bazzi P, Bresolin N, Scarlato G, Moggio M.. symptomatic or paucisymptomatic hyperckemia: retrospective stidy of a large patient population. 34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3 June 1998 Clinical Neuropathology, 17, 163, Sciacco M, Prelle A, Comi GP, Messina S, Ciscato P, Carpo M, Nobile-Orazio E, Fortunato F, Mora G, Bignotti V, Fagiolari G, Scarlato G, Moggio M. Abnormal expression of cyclin-dependent kinases in an atypical case of desminopathy. 34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3 June 1998 Clinical Neuropathology, 17, 168, Silani V, Brioschi A, Bernasconi S, Rango M, Bozzali M, Moggio M, Prelle A,Comi G, Gellera C, Cappellari A, Commola A, Braga M, Pellegrini G, Checcarelli N, Scarlato G. A sporadic case of amyotrophic lateral sclerosis-parkinsonism. 34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3 June 1998 Clinical Neuropathology, 17, 151, Rango M, Bozzali M, Castelli A, Prelle A, Comi G, Scarlato G, Bresolin N. Brain activation in patients with mitochondrial disease without central nervous system involvement: a Phosphorus Magnetic Resonance Spectroscopy study. Telethon Scientific Convention, Roma, Novembre p 242, Comi GP, Hadjigeorgiou GM, Bordoni A, Bignotti V, Shen J, Chen Y-T, Toscano A, Andria G. Biasucci G, Scarlato G. Molecular basis of glycogen storage disease type III Telethon Scientific Convention, Roma, Novembre P: 423, M Aguennouz, A. Toscano, C. Rodolico, A. Ciranni, M. Ruggeri, R. Musolino, P. La Spina, A. Migliorato, A. Bordoni, G.P. Comi, G. Vita (Messina, Milano) Muscle lipid storage and young adult stroke: a possible MELAS variant 35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29, 1999 Clinical Neuropathology, 18, 124, L. Napoli, M.P. Perini, A. Bordoni, G.P. Comi, A. Toscano, M. Agennouz, M. Sciacco, S. Strazzer, A. Prelle, M. Moggio, G. Scarlato (Milano, Messina) Familial infantile mitochondrial DNA depletion: clinical, histochemical, biochemical and genetic study 35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29, 1999 Clinical Neuropathology, 18, 146, A. Bordoni, G.P. Comi, M. Zeviani, V. Tiranti, G. Scarlato (Milano) Pag. 178 di

108 SURF-1 expression in human tissues 35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29, 1999 Clinical Neuropathology, 18, 127, S. Corti, S. Paganoni, S. Salani, R. Del Bo, Y. Torrente, G.P. Comi, G. Scarlato Expression of T-antigen in human myoblasts results in inhibition of terminal differentiation and apoptosis 35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29, 1999 Clinical Neuropathology, 18, 133, V. Tiranti, C. Galimberti, F. Carrara, E. Lamantea, A. Bordoni, E. Bertini, G. Comi, G. Uziel, T., Meitinger,M. Zeviani (Milano, Monaco) SURF-1 mutations in cytochrome-c-oxidase deficiency 35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29, 1999 Clinical Neuropathology, 18, 158, C. Galimberti, V. Tiranti, G. Comi, A. Bordoni, P. Corona, M. Zeviani (Milano) A second chromosomal locus for Leigh syndrome associated with cytochrome c oxidase deficiency 35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29, 1999 Clinical Neuropathology, 18, 136, M. Sciacco, L. Napoli, A. Prelle, G. Comi, L. Chiveri, G. Fagiolari, A. Bordoni, A. Toscano, G. Scarlato, M. Moggio (Milano, Messina) Frequency of specific clinical features and laboratory alterations in 207 patients affected with mitochondrial DNA disorders EEN 35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29, 1999 Clinical Neuropathology, 18, 154, C.Galimberti, V. Tiranti., Nijtmans L., Bovolenta S., G. Comi, Zeviani M. Characterization of SURF-1 gene expression and SURF-1 protein function in normal and diseased conditions. XXXI National Congress of the Italian Neurological Society. Verona, October 2-6, 1999 The Italian Journal of Neurological Sciences 20: 106; Perini M.P., Napoli L., Bordoni A., Comi G.P., Toscano A., Agennouz M., Sciacco M., Strazzer S., Prelle A., Messina S., Martinuzzi A., Scarlato G.. IS MITOCHONDRIAL DNA DEPLETION ALWAYS OF NUCLEAR ORIGIN? A CYBRID STUDY XXXI National Congress of the Italian Neurological Society. Verona, October 2-6, 1999 The Italian Journal of Neurological Sciences 20: 170; Rodolico C., Toscano A., Aguennouz M., Ruggeri M., Ciranni A., Musolino A., La Spina R., Migliorato A., Bordoni A., Comi GP, Vita G., Messina C Young adult stroke and muscle lipid storage: is it a MELAS variant? Pag. 179 di

109 XXXI National Congress of the Italian Neurological Society. Verona, October 2-6, 1999 The Italian Journal of Neurological Sciences 20: 162; Comi G.P., Fortunato F., Tancredi L., Prelle A., Galbiati S., Paganoni S. Scarlato G. Muscle calpain 3 analysis in Limb Girdle Muscular Dystrophy type 2A XXXI National Congress of the Italian Neurological Society. Verona, October 2-6, 1999 The Italian Journal of Neurological Sciences 20: 131; Tiranti V., Galimberti C., Carrozzo R., Santorelli F. Comi G.P., Uziel G., Zeviani M. Loss of function mutations of SURF-1 in Cytochrome c Oxidase deficiency. XXXI National Congress of the Italian Neurological Society. Verona, October 2-6, 1999 The Italian Journal of Neurological Sciences 20: 131; R. Cagliani, G.P. Comi, M. Sironi, F. Fortunato, R. Giorda, L. Tancredi, A. Bardoni, M. Moggio, N. Bresolin Primary Beta-Sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. 36 th Meeting of the Italian Association of Neuropathology Clinical Neuropathology, 19, , Comi G.P., Bardoni A., Cagliani R., Felisari G., Sironi M., Fortunato F., Prelle A., Tancredi L., Bonaglia M.C., Pozzoli U., Bresolin N. An aberrant splicing event as a cause for Becker muscular dystrophy: expression of two dystrophins in a 17 year old boy 36 th Meeting of the Italian Association of Neuropathology Clinical Neuropathology, 19, 148, Corti S., Martinuzzi A., Comi G.P., Locatelli F., Salani S., Fortunato F., Angelini C., Bresolin N., Scarlato G. Analysis of dystrophin expression in aminoglycoside-treated myotubes of Duchenne muscular dystrophy patients. 36 th Meeting of the Italian Association of Neuropathology Clinical Neuropathology, 19, 149, Torrente Y., Fagiolari G., Gallanti A., Lamperti C., Salani S., Pisati F., Corti S., Comi G.P., Moggio M., Bresolin N., Scarlato G. Apoptosis in myoblast transplantation 36 th Meeting of the Italian Association of Neuropathology Clinical Neuropathology, 19, 160, Del Bo R., Perini M.P., Strazzer S., Galbiati S., Comi G.P., Bresolin N., Scarlato G. Mitochondrial DNA point mutations in aged individuals affected by Down's syndrome. Atti "4 Riunione Scientifica Italian Interdisciplinary Network on Alzheimer Disease", Palermo, 29 giugno - 1 luglio Del Bo R., Perini M.P., Strazzer S., Galbiati S., Castelli E., Comi G.P., Bresolin N., Scarlato G. Specific ageing-related mitochondrial DNA mutations in Down syndrome fibroblasts. Atti "2 convegno del Gruppo di Cooperazione in Neuroscienze Molecolari", Milano, Pag. 180 di Settembre 2000.

110 114. Del Bo R., Comi G.P., Scarlato G. Down syndrome fibroblasts anticipate the accumulation of specific age-related mutations in mitochondrial DNA control region. Atti Convegno La salute dell anziano: ricerca e società, nell ambito del progetto strategico biologia dell invecchiamento e sue conseguenze sul sistema assistenziale, Roma, 14 Dicembre Limongelli A., Carrara F., Comi G., Kaukonen J., Soumalainen A., Zeviani M., Tiranti V. Identificazione di mutazioni nel gene ANT1 in casi di oftalmoplegia estrinseca progressiva associata a delezioni multiple del DNA mitocondriale. Atti "3 Congresso Nazionale Società Italiana di Genetica Umana", Orvieto 29 Novembre- 1 Dicembre 2000, p Parini R., Restano L., Comi G., Menni F., Piozzi E., Triulzi F. Delezione eteroplasmica del DNA mitocondriale e ipomelanosi di Ito. Atti "3 Congresso Nazionale Società Italiana di Genetica Umana", Orvieto 29 Novembre- 1 Dicembre 2000, p Lucchiari S., Fogh I., Comi G.P. Nuove mutazioni nel gene AGL nella Glicogenosi di tipo III Atti "3 Congresso Nazionale Società Italiana di Genetica Umana", Orvieto 29 Novembre- 1 Dicembre 2000, p G.P. Comi, F. Fortunato, S. Lucchiari, A. Bordoni, A. Prelle, S. Jann, A. Keller, P. Ciscato, S. Galbiati, L. Chiveri, Y. Torrente, G. Scarlato, N. Bresolin Beta-Enolase Deficiency, a New Metabolic Myopathy of Distal Glycolysis 47 TH Annual meeting of the Italian Association of Neuropathology, Verbania, May 24-26, Clinical Neuropathology, 20: 117, Corti S., Strazzer S., Comi G.P., Del Bo R., Salani S., Fortunato F., Bresolin N., Scarlato G. Muscle-specific genes are expressed in a fraction of mouse bone marrow cells. 47 TH Annual meeting of the Italian Association of Neuropathology, Verbania, May 24-26, Clinical Neuropathology, 20: 118, Fagiolari G., Sciacco M., Chiveri L., Lamperti C., Prelle A., Comi G.P., Bordoni A., Perini M.P., Scarlato G., Moggio M. Absence of apoptosis in muscle of PEO patients with mutations in ANT 1 gene. 47 TH Annual meeting of the Italian Association of Neuropathology, Verbania, May 24-26, Clinical Neuropathology, 20: 120, Del Bo R., Comi G.P., Scarlato G. Accumulo di specifiche mutazioni somatiche nelle regioni regolatorie del DNA mitocondriale nel tessuto muscolare scheletrico umano: un'analisi su singola fibra. Consiglio Nazionale delle Ricerche: Progetto strategico "Biologia dell'invecchiamento e sue conseguenze sul sistema assistenziale. Tuscania, giugno Atti Pag. 181 di 122. Del Bo R., Comi G.P., Crimi M., Sciacco M., Napoli L., Bresolin N., Scarlato G.

111 Specifc ageing-related mutations in the human mtdna control region from normal muscles: a single-fiber study. 5 Riunione Scientifica Italian Interdisciplinary Network on Alzheimer Disease. Roma, giugno Atti D'Adda E., Sciacco M., Comi G.P., Rango M., Prelle A., Lamperti C., Perini M.P., Bordoni A., Galbiati S., Scarlato G., Moggio M. T8993C mitochondrial DNA mutation causing both the NARP and MILS phenotype in the same generation: a morphologic, genetic, and spectroscopic study. XXXII Congress of the Italian Neurological Society, Rimini September 29-October 3, Neurological Sciences, 22, S71, Galbiati S., Perini M.P., Sciacco M., Bordoni A., Lamperti C., Comi G.P., Messina S., Moggio M., Bresolin N., Scarlato G. A late onset multisystem disorder with muscle mitochondrial DNA depletion. XXXII Congress of the Italian Neurological Society, Rimini September 29-October 3, Neurological Sciences, 22, S75, Tancredi L., Prelle A., Chiveri L., Comi G.P., Sciacco M., Ciscato P., Serafini M., Fagiolari M., Fortunato F., Scarlato G., Moggio M. Dysferlin study in a large population of Italian myopathic patients. XXXII Congress of the Italian Neurological Society, Rimini September 29-October 3, Neurological Sciences, 22, S120, Chiveri L., Fagiolari G., Sciacco M., Lamperti C., Prelle A., Comi G.P., Bordoni A., Perini M. P., Scarlato G., Moggio M. Lack of apoptosis in skeletal muscle tissue of patients with Progressive External Ophthalmoplegia and mutations in the Adenine Nucleotide Translocator-1 gene. XXXII Congress of the Italian Neurological Society, Rimini September 29-October 3, Neurological Sciences, 22, S121, Chiveri L., Tancredi L., Comi G.P., Sciacco M., Ciscato P., Serafini M., Fagiolari G., Porta M., Cavaletti G., Fortunato F., Scarlato G., Moggio M., Prelle A. Immunological dysferlin screening in a large population of myopathic patients. First National Meeting of the Italian Association of Myology, Camogli, GE October 19-20, Basic and Applied Myology 11(1): 55, Fagiolari G., Sciacco M., Lamperti C., Prele A., Chiveri L., Comi G.p:, Bordoni A., Perini M. P., Scarlato G., Moggio M. Absence of apoptosis in skeletal muscle tissue of PEO patients with mutations in the Adenine Nucleotide Translocator-1 gene. First National Meeting of the Italian Association of Myology, Camogli, GE October 19-20, Basic and Applied Myology 11(1): 57, Perini M.P., Sciacco M., Galbiati S., Bordoni A., Lamperti C., Comi G.P., Moggio M., Scarpini S., Bresolin N., Scarlato G. Late onset multisystem disorder with muscle mitochondrial DNA depletion: a case report. First National Meeting of the Italian Association of Myology, Camogli, GE October 19-20, Pag. 182 di

112 Basic and Applied Myology 11(1): 62, Sciacco M., D'Adda E., Comi G.P., Rango M., Prelle A., Lamperti C., Perini M.P., bordoni A., Galbiati S., Scarlato G., Moggio M. Familial T8993C mutation causing both the NARP and MILS phenotype in the same generation: a morphologic, genetic, and spectroscopic study. First National Meeting of the Italian Association of Myology, Camogli, GE October 19-20, Basic and Applied Myology 11(1): 65, Crimi M., Del Bo R., Bordoni A, Comi G. Patogenesi molecolare delle miopatie mitocondriali. 1 Sigma Aldrich Young Chemists Symposium. Riccione, Ottobre P Del Bo R., Galbiati S., Crimi M., Comi G.P., Bresolin N., Scarlato G. Accumulation of somatic point mutations in the human mtdna control region in the ageing process and in ageing-associated neurodegenerative diseases. Convegno " Biological markers in Alzheimer disease" giornata monotematica Italian Interdisciplinary Network on Alzheimer Disease. Monza, 3 novembre Atti Comi GP, Lucchiari S. Fogh I. Molecular basis of glycogen storage disease type III Telethon Scientific Convention, Riva del Garda, Novembre P: 416, Comi G.P. Analisi Molecolare nelle distrofie muscolari: algoritmo diagnostico. 3 Corso di Perfezionamento in diagnostica multidisciplinare delle malattie neuromuscolari. Messina, 26 Novembre-1 Dicembre 2001, Messina. Atti. 135 Comi G.P., Corti S., Strazzer S., Del Bo R., Salani S., Bossolasco P., Locatelli F., Soligo D., Scarlato G., Bresolin N. Can Hematopoietic stem cells cure neuromuscular diseases? Atti convegno Hematopoietic stem cell theraphy: the basic questions, Milano, 1 febbraio Del Bo R., Comi G.P., Bresolin N., Scarlato G. Accumulo di specifiche mutazioni somatiche nelle regioni regolatorie del DNA mitocondriale nel tessuto muscolare scheletrico umano. Atti Convegno: La salute dell anziano: tema d attualità nella formazione delle professioni sanitarie, nell ambito del progetto strategico titolato Determinanti di salute e invecchiamento della popolazione, Roma, 15 marzo Del Bo R., Comi G.P., Giorda R., Crimi M., Locatelli F., Martinelli-Boneschi F., Pozzoli U., Castelli E., Bresolin N., Scarlato G. The 129 codon polymorphism of the prion protein gene influences cognitive performance in Down Syndrome subjects. Atti "6 Riunione Scientifica Convegno Annuale Italian Interdisciplinary Network on Alzheimer Disease", Sorrento, giugno Pag. 183 di

113 138 Fenoglio C., Galimberti D., Del Bo R., Corrà B., Guidi I., Tiriticco M., Cogiamanian F., Scarpini E., Comi G.P., Baron P.L., Bresolin N., Scarlato G. Monocyte Chemotactic Protein-1 gene (MCP-1) polymorphism in Alzheimer s Disease. Atti "6 Riunione Scientifica Convegno Annuale Italian Interdisciplinary Network on Alzheimer Disease", Sorrento, giugno Gatti A., Fenoglio C., Galimberti D., Del Bo R., Corrà B., Guidi I., Tiriticco M., Cogiamanian F., Comi G.P., Baron P.L., Bresolin N., Scarpini E. Monocyte chemotactic protein-1 (MCP-1) gene A-2518 polymorphism in Alzheimer s disease. Atti XIII Congresso Associazione Italiana Neuroimmunologia (AINI), Moltrasio (CO), ottobre Biunno I., Crimi M., Malferrari G., Comi GP and Rossi Bernardi L. HTS-Technological Platform- presentation. Riunione CISI. 10 April, Segrate, Milan, Italy. 141 Crimi M., Galbiati S., Bordoni A., Strazzer S., Sciacco M., Perini M.P., Pintucci C., Zecca C., Biunno I., Moggio M., Bresolin N., Scarlato G. and Comi G.P. The first maternally-inherited mutation of mitochondral t-rna His gene results in retinitis pigmentosa and neuro-sensorial hypoacusia. Associazione Italiana di Miologia, Torino Giugno Basic and Applied Myology (BAM) Vol. 12: p.125, Sciacco M., Crimi M., Galbiati S., Bordoni A., Lombardi F., Fagiolari G., Malferrari G., Moroni I., Lamantea E., Zeviani M., Moggio M., Bresolin N., Scarlato G. and Comi G.P. A heteroplasmic A13084T mutation in ND5 mtdna gene causes early-onset progressive mental retardation and gait ataxia. Associazione Italiana di Miologia, Torino Giugno Basic and Applied Myology (BAM) Vol. 12: p.117, Cagliani R., Sironi M., Rodolico C. Toscano A., Lucchiari S., Fortunato F., Prelle A.., Tancredi L., Salani S., Sciacco M., Zecca C., Gallanti A., Moggio M., Bresolin N., Comi G.P. A novel splice-site mutation in a LGMD-2B family causing activation of a cryptic site and total dysferlin absence. Associazione Italiana di Miologia, Torino Giugno Basic and Applied Myology (BAM) Vol. 12: p.111, R. Cagliani, A. Gallanti, M. Sironi, Ciscato, V. Cardin, S. Bonato, S. Galbiati, L. Chiveri, S. Corti, A. Prelle, M. Moggio, N. Bresolin, GP Comi. A novel autosomal dominant CAV3 gene mutation results in both RMD and LGMD in the same family. Associazione Italiana di Miologia, Torino Giugno Basic and Applied Myology (BAM) Vol. 12: p.112, Chiveri L., Gallanti A., Fratto P., Fortunato F., Bordoni A., Lombardi F., Comi GP, Prelle A., Vitali E., Moggio M. concomitant involvement of cardiac and skeletal muscle tissues in HIV seropositive converted patient. Pag. 184 di Associazione Italiana di Miologia, Torino Giugno 2002.

114 Basic and Applied Myology (BAM) Vol. 12: p.112, Lucchiari S., Fogh I., Prelle A., Parini R., Bresolin N., Melis D., Gatti R., Donati MA, Scarlato G., Comi GP. Glycogen Storage Disease type III: genotype and phenotype study on a cohort of mediterranean patients. Associazione Italiana di Miologia, Torino Giugno Basic and Applied Myology (BAM) Vol. 12: p.112, M. Sironi, R. Cagliani, A. Bardoni, G.P. Comi, U. Pozzoli, N. Bresolin. The dystrophin rod-domain is alternatively spliced in both normal human tissues and in DMD/BMD skeletal muscle Associazione Italiana di Miologia, Torino Giugno Basic and Applied Myology (BAM) Vol. 12: p.117, Cagliani R., Sironi M., Bardoni A, Fortunato F., Grimoldi N., Bresalin N., Comi G (2003). A complex rearrangement in the DMD gene determines new exan inclusion and BMD phenotype. Congenital muscular dystrophy presenting as infiammatory myopathy.. BASIC AND APPLIED MYOLOGY, ISSN: Sciacca M., Prelle A, D'Adda E.. Ciscata P., Fagiolari G., Jann S., Comi G, Crimi M., Di Fanzo A., Bordoni A, Bresolin N., Moggio M. (2003). Homoplasmic T3394C mtdna mutation and genetically documented CPT deficiency and in a patient with ragged red fibers at the musde biopsy and myoglobinuria. Congenital muscular dystrophy presenting as infiammatory myopathy.. BASIC AND APPLIED MYOLOGY, ISSN: Cagliani R., Sironi M., Prelle A., Moggio M., Toscano A, Lacatelli F., Radolico C., Tiberia F., Zecca c., Fortunato F., Grimaldi N., Bresolin N., Comi G (2003). Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possibile faunder effect in the Italian population.. BASIC AND APPLIED MYOLOGY, ISSN: Del Bo R., Guglieri M., D Angelo M.G., Ghezzi S., Magri F., Napoli L., Prelle A., Moggio M., Mora M., Bresolin N., Comi G (2006). A novel GNE mutation causes familial recessive myopathy without inclusion bodies.. BASIC AND APPLIED MYOLOGY, ISSN: Guglieri M., Magri F., Cagliani R., D Angelo M.G., Prelle A., Fortunato F., Lucchiari S., Salani S., Del Bo R., Ghezzi S., Zecca C., Lamperti C., Morandi L., Mora M., Moggio M., Bresolin N., Comi G (2006). Limb-girdle muscular dystrophies: clinical features and genetic frequency in a large Italian population.. BASIC AND APPLIED MYOLOGY, ISSN: S. Pagliarani, S. Lucchiari, S. Corti, M.G. D Angelo, F. Magri, M. Raimondi, M. Carpo, N. Bresolin, G.P. Comi (2008). Caratterizzazione molecolare dei geni CLCN1, SCN4A, KCNJ2, CACNA1S in pazienti con canalopatie muscolari. BASIC AND APPLIED MYOLOGY, ISSN: C.Bruno, E. Pegoraro, A. Berardinelli, G.P. Comi, R. Biancheri, A. D Amico, L. Farina, A. Pini, T. Mongini, L. Morandi, I. Moroni, C. Uggetti, M. Pane, A. Pichiecchio, A. Ruggieri, C. Scuderi, A. Toscano, C.P. Trevisan, E. Bertini, E. Mercuri (2008). Correlazioni genotipo-fenotipo nelle distrofie muscolari congenite con riduzione dell alfa-distroglicano: uno studio italiano multicentrico. BASIC AND APPLIED MYOLOGY, ISSN: Pag. 185 di

115 155 G. Ricci, L. Volpi, M. Tosetti, S. Linsalata, R. Battini, V. Crugnola, M. Moggio, G.P. Comi, G. Cioni, G. Siciliano (2008). Descrizione di un caso clinico con inusuale affaticabilità muscolare e miopatia metabolica. BASIC AND APPLIED MYOLOGY, ISSN: M. Nardini, M. Nizzardo, C. Donadoni, F. Fortunato, N. Bresolin, GP. Comi, S. Corti (2008). La somministrazione di ceftriaxone migliora il fenotipo di un modello murino di Atrofia Muscolare Spinale. BASIC AND APPLIED MYOLOGY, ISSN: F. Magri, R. Virgilio, R. Del Bo, S. Ghezzi, S. Tedeschi, M.G. D Angelo, D. Coviello, A. Prelle, A. Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, G.P. Comi (2008). Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico in una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne. BASIC AND APPLIED MYOLOGY, ISSN: F. Magri, R. Virgilio, R. Del Bo, S. Ghezzi, S. Tedeschi, M.G. D Angelo, D. Coviello, A. Prelle, A. Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, Comi G (2008). Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico in una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne.. BASIC AND APPLIED MYOLOGY, ISSN: M. Nizzardo, S. Corti, M. Nardini, C. Donadoni, F. Fortunato, N. Bresolin, G.P. Comi (2008). Trapianto di cellule staminali neuronali derivate da staminali embrionali (ES) come possibile strategia terapeutica per l Atrofia Muscolare Spinale. BASIC AND APPLIED MYOLOGY, ISSN: Ghezzi S., Corti S., Santoro D., Briani C., Mancuso M., Siciliano G., Bresolin N., Comi G. P., Del Bo R. Progranulin genetic variability is not associated to sporadic Amyotrophic Lateral Sclerosis in Italian petients. Atti, 5th Meeting on molecular mechanisms in Neuroscience. Milano, giugno Lucchiari S, Pagliarani S, Corti S, D Angelo MG, Magri F, Raimondi M, Carpo M, Bresolin N, Comi GP. Molecular characterization of CLCN1, SCN4A, KCNJ2, CACNA1S genes in patients with muscle channelopathies. 5th Meeting of Molecular Mechanisms in Neuroscience, Milan, Giugno Nizzardo M., Corti S, Nardini M., Donadoni C., Fortunato F., Saladino F, Bresolin N., Comi GP. Transplantation of Neural Stem Cells derived from Murine Embryonic (mes) Ameliorates Spinal Muscular Atrophy Phenotype. 5 th Molecular Mechanisms in Neuroscience, University of Milan, Italy, June Nardini M., Nizzardo M., Donadoni C., Fortunato F., Bresolin N., Comi G.P., Corti S. Ceftriaxone treatment improves phenotype in a murine model of spinal muscular. 5 th Molecular Mechanisms in Neuroscience, University of Milan, Italy, June Ghezzi S., Del Bo R., Scarlato M., Fenoglio C., Nardini M., Santoro D., Prelle A., Galimberti D., Scarpini E., Forloni G., Bresolin N., Corti S., Comi G.P. Ruolo del VEGF nella neurodegenerazione e nell invecchiamento. Atti, II Convegno dei Biotecnologi. Torino, 29 febbraio 1 marzo Nizzardo M., Corti S., Nardini M., Donadoni C., Salani S., Locatelli F., Pag. 186 di Papadimitriou D., Comi GP. Cellule staminali neuronali derivate da staminali embrionali

116 murine migliorano il fenotipo di un modello murino di Atrofia Spinale Muscolare (SMA). 2 Congresso dei Biotecnologi-Sezione Piemonte, Torino Febbraio-1 Marzo Simone C., Corti S., Nizzardo M., Salani S., Nardini M., Donadoni C., Ronchi D., Falcone M., Bresolin N., Comi G.P. Neural stem cells derived from genetically engineered, lineage-selectable Es cells improves the phenotype of a mouse model of spinal muscular atrophy. IV Meeting on the Molecular Mechanism of Neurodegeneration, Milano, 8-10 May Ronchi D., Nizzardo M., Nardini M., Salani S., Simone C., Falcone M., Donadoni C., Bresolin N., Comi G.P. and Corti. S. Ceftriaxone treatment improves phenotype in a murine model af spinal muscular atrophy. IV Meeting on the Molecular Mechanism of Neurodegeneration, Milano, 8-10 May Del Bo R., Ghezzi S., Corti S., Santoro D., Briani C., Mancuso M., Siciliano G., Fenoglio C., Galimberti D., Scarpini E., Bresolin N., Comi G.P. Progranulin genotyping in 237 sporadic amyotrophic lateral sclerosis patients. "12 Riunione Scientifica Convegno Annuale Italian Interdisciplinary Network on Alzheimer Disease"; Milano 9 gennaio Atti pag Nizzardo M., Corti S., Nardini M., Donadoni C., Salani S., Ronchi D., Del Bo R., Papadimitriou D., Locatelli F., Bresolin N., Comi G.P. Motoneuron transplantation rescue the phenotype of spinal muscular atrophy with respiratory distress type 1 (SMARD1). IV Meeting on the molecular mechanisms of neurodegeneration, Milano, 8-10 maggio Atti (abstract P114) 170 Ronchi D, Ghezzi S, Nizzardo M, Nardini M, Donadoni C, Fortunato F, Salani S, Colciago G, Bordoni A, Bresolin N, Comi GP, Corti S. Miglioramento del fenotipo in un modello murino di SMA in seguito a trattamento con ceftriaxone. [COMUNICAZIONE ORALE] Convegno Nazionale dell Associazione Nazionale Biotecnologi Italiani, Siena marzo Atti. 171 Corti S., Nizzardo M., Nardini M., Donadoni C., Salani S., Simone C., Falcone M., Mezzina N., Gianni F., Riboldi G., Bresolin N., and Comi G.P.. Systemic transplantation of c-kit + cells exerts a therapeutic effect in a model of Amyotrophic Lateral Sclerosis AIM Conference, Milan, Italy, 3-5 June Acta Myologica 172 Nizzardo M., Simone C., Falcone M., Donadoni C., Nardini M., Salani S., Magri F., Riboldi G., Del Bo R., Corti S., Comi GP. Development of a therapeutic approach for Spinal Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent stem cell-derived neural stem cells and motor neurons. XVI convegno Telethon, Riva del Garda, Italy, March Simone C., Falcone M., Ronchi D., Riboldi G., Menozzi G., Bonaglia C., Nizzardo M., Riboldi G., Bresolin N., Corti S. Neuroprotection in Spinal Muscular Atrophy (SMA) using neural stem cell as teherapeutic approach. XVI convegno Telethon, Riva del Garda, Italy, March Falcone M, Rizzo F, Nizzardo M, Simone C, Ronchi D, Donadoni C, Salani S, Ulzi G, Riboldi G, Bresolin N and Corti S. Neuroprotection in Spinal Muscular Atrophy (SMA) using neural stem cell as teherapeutic approach. V Meeting on the Molecular Mechanism of Neurodegeneration, Milan, May 13-15, 2011 Pag. 187 di

117 175 Corti S., Nizzardo M., Simone C., Falcone M., Salani S., Donadoni C., Nardini M., Riboldi G., Menozzi G., Bonaglia C., Rizzo F., Bresolin N., Comi G.P., Motoneurons from Spinal Muscular Atrophy-Induced Pluripotent Stem Cells for disease modeling and cell therapy 11 Congresso Nazionale Associazione Italiana di Miologia Maggio 2011, Acta Myologica 176 Ripolone M, Fagiolari G, Vallejo D, Ronchi D, Lucchini V, Violano R, Bordoni A, Lamperti C, Villa L, Corti S, Balottin U, Bresolin N, Comi G, Sciacco M, Berardinelli A, Moggio M. Oxidative defects at muscle histochemistry in 15 genetically-determined SMA cases. 12 Congresso Nazionale Associazione Italiana di Miologia Maggio 2012, Acta Myoologica 177 Corti S. Nizzardo M., Simone C., Falcone M., Nardini M., Ronchi D., Donadoni C., Salani S., Riboldi G., Menozzi G., Bonaglia C., Rizzo F., Magri F., Bresolin N., Comi GP. Targeted gene correction of Spinal Muscular Atrophy induced pluripotent stem cells and motoneurons as cell source for therapy. 12 Congresso Nazionale Associazione Italiana di Miologia Maggio 2012, Acta Myologica 178 Corti S., Nizzardo M., Simone C., Rizzo F., Salani S., Ruggieri M., Bresolin N., Comi G. Transplantation of neural stem cells derived from induced pluripotent stem cells improves Amyotrophic Lateral Sclerosis phenotype in mice. XLIII Congresso della Società Italiana di Neurologia, Rimini 2012; Neurological Sciences 179 Nizzardo M., Simone C., Falcone M., Rizzo F., Salani S., Faravelli I., Zanetta C., Ruggieri M., Bresolin N., Comi G., Corti S. Treatment with unmodified and octa-guanidineconjugate morpholino oligomers rescues spinal muscular atrophy in mice. XLIII Congresso della Società Italiana di Neurologia, Rimini 2012; Neurological Sciences 180 Gellera C, Tiloca C, Del Bo R, Corrado L, Pensato V, Agostini, Cereda C, Ratti A, Castellotti B, Corti S, Bagarotti A, Cagnin A., Milani P., Gabelli C, Riboldi G, Mazzini L, Soraru G, D Alfonso S, Taroni F, Comi GP, Ticozzi N, Silani V. Ubiqullin 2 mutations in italian patients with amyotrophic lateral sclerosis and frontotemporal dementia, Congresso della Società Italiana di Neurologia, Rimini 2012; Neurological Sciences 181 Corti S, Nizzardo M, Simone C, Rizzo F, Ruggieri M, Salani S, Brajokovic S, Bresolin N, Comi GP. Transplantation of ips derived neural stem cells in a mouse model of Amyotrophic Lateral Sclerosis, Convegno ARISLA Simone C., Nizzardo M., Ronchi D., Salani S., Riboldi G., Magri F., Faravelli I., Zanetta C., Menozzi G., Bonaglia C., Bresolin N., Comi G., Corti S. Neuroprotection in Spinal Muscular Atrophy (SMA) using neural stem cells as therapeutic approach. Convention Telethon Nizzardo M., Simone C., Rizzo F., Ruggieri M., Salani S., BrajkovicS., Bresolin N., Corti S. Comi GP. Development of a therapeutic approach for Spinal Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent stem cell-derived neural stem cells and motor neurons, Convention Telethon Rizzo F, Ruggieri M, Nizzardo M, Simone C, Salani S, Faravelli I, Zanetta C, Brajkovic S, Riboldi G, Bresolin N, Comi GP, Corti S. Amelioration of Amyotrophic Lateral Sclerosis phenotype in mouse model by ips derived neural stem cells trasplantation 13 Congresso Nazionale AIM XIII Congress of the Italian Association of Myology Pag. 188 di (AIM), May Acta myologica, vol. XXXII, May 2013

118 185 Corti S, Nizzardo M, Simone C, Salani S, Ruepp M, Rizzo F, Ruggieri M, Brajkovic S, Faravelli I, Zanetta C, Bresolin N, Comi GP. Spinal muscular atrophy phenotype rescue by combined systemic and local morpholino treatment 13 Congresso Nazionale AIM XIII Congress of the Italian Association of Myology (AIM), May Acta myologica, vol. XXXII, May Del Bo R., Magri F., Fortunato F., D Angelo MG, Pane M., Bianco F., Govoni A., Corti S., Mercuri E., Bresolin N., Moggio M., Comi GP. LAMA2 gene mutations are cause of congenital and limb-girdle muscular dystrophies. XIII Congress of the Italian Association of Myology (AIM), May Acta myologica, vol. XXXII, May 2013, p Pagliarani S., Sansone V., Scarlato M., Mosoni A., Magri F., Previtali S., Corti S., Meola G., Lo Monaco M., Comi GP. Genetic distribution and unusual phenotypes in a periodic paralysis color. XIII Congress of the Italian Association of Myology (AIM), May Acta myologica, vol. XXXII, May 2013, p Piga D., Ronchi D., Magri F., Corti S., Ghezzi S., Mercuri E., Bertini E., Toscano A., Moroni I., Moggio M., D Angelo MG., Bruno C., Mora M., Bresolin N., Comi GP. Next generation sequencing in the analysis o fan italuan color of patients afefcted by nemaline myopathy. XIII Congress of the Italian Association of Myology (AIM), May Acta myologica, vol. XXXII, May 2013, p Ronchi D, Garone C, Bordoni A, Rios PG, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Xhani R, Servida M, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, Di Mauro S, Comi GP, Sciacco M. Next-generation sequeencing discloses DGUOK mutations in adult patients with mtdna multiple deletions. [COMUNICAZIONE ORALE] XIII Congress of the Italian Association of Myology (AIM), May Acta myologica, vol. XXXII, May 2013, p Ronchi D, Di Fonzo A, Bordoni A, Pagliarani S, Rizzuti M, Melzi V, Tiri G, Filosto M, Ferrò MT, Peverelli L, Vetrano IG, Spagnoli D, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP. Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. XIII Congress of the Italian Association of Myology (AIM), May Acta myologica, vol. XXXII, May 2013, p Simone C, Nizzardo M, Rizzo F, Ruggieri M, Salani S, Riboldi G, Faravelli I, Zanetta C, Bresolin N, Corti S, Comi GP. Minimally invasive transplantation of ipscderived ALDHhiSSClo neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model. Congresso ARISLA Rizzo F., Simone C., Ruggieri M., Salani S., Zanetta C., Faravelli I., Ruepp M., Moulton H., Bresolin N., Comi G., Corti S., Nizzardo M. Development of an oligonucleotides strategy towards a treatment for ALS. Congresso ARISLA Nizzardo M, Simone C., Rizzo F., Ruggieri M., Salani S., Zanetta C., Faravelli I., Ruepp M., Moulton H., Bresolin N., Comi G., Corti S. Improved oligonucleotides strategy towards a treatment for genetic motor neuron diseases. XLIV Congresso della Società Italiana di Neurologia, Neurological Sciences, 2-5 Novembre, Corti S., Nizzardo M., Simone C., Rizzo F., Ruggieri M., Salani S., Faravelli I., Zanetta C., Bresolin N., Comi G. Development of a therapeutic approach for Spinal Pag. 189 di Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent

119 stem cell-derived neural stem cells and motor neurons, XLIV Congresso della Società Italiana di Neurologia, Neurological Sciences, 2-5 Novembre, Lanfranconi S, Basilico P, Ronchi D, Ahmed N, Corti S, Comi GP, Bresolin N. A novel mutation in CCM/KRIT1 gene associated with familial cerebral cavernous malformations. XLIV Congresso della Società Italiana di Neurologia, Neurological Sciences, 2-5 Novembre, Bersano A., Lanfranconi S., Micieli G., Delofovici M., Calloni M., Perrone P., Mazzucchelli F, Beretta S., Pezzini A., Padovani A., Sessa C., Motto C., Checcarelli N., Boncoraglio G., Gellera C., Taroni F., Penco S., Carrera P., Obici L., Corti S., Comi G., Grasso M., Arbustini E., Bassi M., Comi G., Fusi L., Tancredi L., Lattuada O., Addobbati L., Ferrarese C., Parati L., Candelise L. Phenotype identification as clinical pregenetic screening for stroke monogenetic diseases: results from Lombardia Gens Registry. XLIV Congresso della Società Italiana di Neurologia, Neurological Sciences, 2-5 Novembre, Monica Nizzardo; Chiara Simone; Sara Dametti, Agnese Ramirez, Andrea DalMas; Emanuele Frattini; Giulietta Riboldi; Francesca Magri; Nereo Bresolin; Franco Pagani; Giacomo Comi; Stefania Corti, University of Milan, RNA therapy for Spinal Muscular Atrophy by SMN increase or modulation of secondary cell death events, AIM Sirmione 2014 Pag. 190 di

120 Capitoli in libri 1. "A new muscle enzyme defect: Glucose 6 Phosphate Dehydrogenase Deficiency". Bresolin N., Meola G., Bet L., Martucci G., Fortunato F., Comi G., Adobbati L., Scarlato G. II Meeting of the International Society for Myochemistry. Rome. October 7-10, Published on "Advances in Myochemistry" by Benzi G., ed. John Libbey, London-Paris, , "A mitochondrial myopathy with Complex I deficiency: a biochemical and morphological approach". Bet L., Bresolin N., Moggio M., Comi G., Scarlato G. II Meeting of the International Society for Myochemistry, Rome, October 7-10, Published on "Advances in Myochemistry" by Benzi G., ed. John Libbey, London-Paris, , "Immunological and biochemical studies and pilot terapeutical trial with Ubidecarenone in Kearns-Sayre patients". Bresolin N., Bet L., Ferrante C., Binda A., Carenzi A., Moggio M., Comi G., Scarlato G. in "Advances in Neurology. Molecular genetics of Neurological and Neuromuscular Diseases". Vol. 48, Di Donato S., ed. Raven Press, New York, NY, USA, "Familiar cases of mitochondrial myopathies: mitochondrial DNA deletions and genetic analysis" Bresolin N., Moroni I., Ciafaloni E., Moggio M., Meola G., Gatti A., Comi G., Scarlato G. in : "Molecular basis of neurological disorders and their treatment" Gorrod E. ed. Chapman & Hall, London, , Bresolin N., Comi G.P., Mazzucchelli F., Bardoni A., Scarlato G. Mitochondrial encephalomyopathies: from the genes to the clinical phenotypes. In:"Molecular bases of Human diseases" Polli E.E., ed. Elsevier Science Publishers. Amsterdam, Bresolin Nereo, Fabiola E.Gonano, Giacomo Comi Cytochrome c oxidase deficiencies. In: Mitochondria: DNA, Proteins and Disease V. Darley-Usmar and A.H.V. Schapira, eds N.Bresolin, G.P.Comi, F. Mazzucchelli, C. Ausenda, M. Robotti, N. Checcarelli, G.Scarlato Atypical presentations associated with multiple deletions and point mutation at nucleotide 3243 of mitochondrial DNA. Neurocardiology '93. Eds, G.Nappi et al. Smith-Gordon Publisher. Great Britain 1994 pg Comi G., Bardoni A., Robotti M. Indagini biomolecolari nelle Distrofie Muscolari di Duchenne e Becker. Pag. 191 di

121 Neurologia 94. XII corso di aggiornamento della Societa' Italiana di Neurologia. Bari, Ottobre CIC Edizioni internazionali. 8. Moroni I, Gonano E, Comi GP, Prelle A, Bresolin N. Clinical Polymorphism in malignant hyperthermia susceptibility. Minerva Anestesiologica, vol.60. Supp. 3 n.9 Sett.94 pg G:P: Comi, A.Bardoni, M. Robotti, C. Ausenda, N. Bresolin Le distrofinopatie.simposi in Medicina Clinica. Rivista Medica degli Ospedali di Milano IRCCS Ospedale Maggiore, Niguarda Cà Granda, San Carlo Borromeo e di Sesto S.Giovanni. The role of Molecular genetics in neurological diagnosis. Masson 89, (2): , Comi G., Bardoni A, Robotti M. Indagini biomolecolari nelle distrofie muscolari di Duchenne e Becker. In: Neurologia '95. XII Corso di aggiornamento della Societa' Italiana di Neurologia Fieschi C, Federico A, Federico F, Toso V, Trojano ME (eds).cic Edizioni Internazionali, 1995, pp Prelle A., Moggio M., Comi G., Rigoletto C, Messina M, Bazzi P, Scarlato G. Le distrofia muscolari congenite. In: Neurologia XIII Corso di aggiornamento della Societa' Italiana di Neurologia Carreras M, Federico A, Fieschi C, Paolino E (eds). Editrice Pisani, 1996, pp Ausenda CD, Bresolin N, Robotti M, Comi GP, Perini MP, Baldessari S, Colucci M, Scarlato G. Il trapianto di mioblasti come approccio delle malattie genetiche del muscolo scheletrico. Libro Giubilare Professor Giancarlo Guazzi. P.Annunziata, A Rossi (eds) Universita' di Siena. pp: , Bernasconi S., Silani V., Brioschi A., Rango M., Bozzali M., Moggio M., Prelle A. Comi G., Gellera C., Cappellari A., Checcarelli N., Pellegrini G., Scarlato G. Malattia del motoneurone e parkinsonismo: terapia antiglutammatergica. Atti XXV Riunione LIMPE "Eccitazione ed inibizione del sistema extrapiramidale" Copanello (CZ) 1-2 Ottobre pp Bresolin N., Lucchiari S. Comi G.P. Miopatie metaboliche nelle malattie da accumulo di glicogeno. In: XV Corso di Aggiornamento della Società Italiana di Neurologia. Neurological Sciences, Springer Verlag, 2000, Vol. 21, Suppl. pag Comi G.P., Strazzer S. Galbiati S. Bresolin N., Cytochrome c oxidase deficiency. AHV Schapira ed. Mitochondrial Function and Dysfunction. Academic Press, San Diego, California, USA. Vol. 53, pp: Toscano A. Comi G.P. Laboratorio di Biochimica muscolare, in: Requisiti strutturale, strumentali ed organizzativi per l accreditamento dei laboratori di neuropatologia. pp: Associazione Italina di Neuropatologia. Centro Stampa Universitario, Messina. Maggio Pag. 192 di

122 17 Del Bo R., Ghezzi S., Bordoni A., Crimi M., Sciacco M., Bresolin N., Comi G.P. Mutations in the mitochondrial DNA control region in mitochondrial disorders associated with defects in mtdna maintenance and aging. Frontiers in DNA Research, Editor Corey R. Woods; NovaScience Hardback; ISBN: Pag. 193 di