Associate Professor; Neuromuscular Unit and Laboratory

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1 Curriculum Vitae PERSONAL INFORMATION Tiziana Mongini WORK EXPERIENCE July 1988 September 2012 Associate Professor; Neuromuscular Unit and Laboratory University of Torino, Department of Neurosciences, (Italy) Diagnostic and assistential activity for patients with neuromuscular disorders (SMA, hereditary neuropathies, neuromuscular junction diseases, hereditary and acquired myopathies). In patiens and out-patients facilities; muscle and nerve biopsies with histological, biochemical and EM workout; tissue bank. Didactic activities for Medical School students and Residents October 2012 Present Associate Professor Department of Neurosciences Rita Levi Montalcini, (Italy) Chief, Neuromuscular Unit and Laboratory (same as above) EDUCATION AND TRAINING October 1975 July 1981 Student Medical School, University of Torino, (Italy) Pathology, Ultrastructure laboratory Internal Medicine General Neurology February 1982 November 1985 Resident Neurological Clinic, University of Torino, (Italy) Neuropathology Neuromuscular Disorders Research Fellow Columbia University, (United States) Cell coltures; translational research on muscle pathology; genetic analysys Clinical training ADDITIONAL INFORMATION Expertise Neuromuscular disorders, in particular muscular dystrophies, congenital myopathies, spinal muscular atrophies, metabolic myopathies and inflammatory myopathies: Pathogenetic mechanisms, clinical evalutation (natural history, multidisciplinary approaches); clinical and laboratory diagnoses (morphology, immunohistochemistry, biochemistry, EM) 8/9/14 European Union, Page 1 / 5

2 Clinical trials (therapeutical and observationals) Publications Total number of publications on peer-reviewed journals: 98 List of publications in the last five years 1. Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E. POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study. Neuromuscul Disord. 18: , 2008 IF Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E.: Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study. Neurology. 72 (21): , 2009 IF Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, Spitali P, Fabris M, Pane M, Angelini C, Mora M, Morandi L, Mongini T, Bertini E, Ricci E, Vattemi G, Mercuri E, Merlini L, Ferlini A.: Transcriptional behavior of DMD gene duplications in DMD/BMD males. Hum Mutat. 30 (2): , 2009 IF 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. 19 (7):458-61, 2009 IF Racca F, Del Sorbo L, Mongini T, Vianello A, Ranieri VM. Respiratory management of acute respiratory failure in neuromuscular diseases. Minerva Anestesiol. 76 (1):51-62, 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. 75 (10): , 2010 IF Mazzone E, Martinelli D, Berardinelli A, Messina S, D'Amico A, Vasco G, Main M, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Carlesi A, Bonetti AM, Zucchini E, De Sanctis R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Pasquini E, Bruno C, Vita G, de Waure C, Bertini E, Mercuri E. North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord. 20 (11): , 2010 IF Sansone VA, Panzeri M, Montanari M, Apolone G, Gandossini S, Rose MR, Politano L, Solimene C, Siciliano G, Volpi L, Angelini C, Palmieri A, Toscano A, Musumeci O, Mongini T, Vercelli L, Massa R, Panico MB, Grandi M, Meola G. Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases. Eur J Neurol 17 (9): , Mazzone E, Vasco G, Sormani MP, Torrente Y, Berardinelli A, Messina S, D'Amico A, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Zucchini E, De Sanctis R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Gasperini S, Previtali S, Napolitano S, Martinelli D, Bruno C, Vita G, Comi G, Bertini E, Mercuri E. Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study. Neurology Jul 19;77(3): Angelini C, Semplicini C, Ravaglia S, Moggio M, Comi GP, Musumeci O, Pegoraro E, Tonin P, Filosto M, Servidei S, Morandi L, Crescimanno G, Marrosu G, Siciliano G, Mongini T, Toscano A; Italian Group on GSDII. New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. Muscle Nerve Jun;45(6): Musumeci O, Bruno C, Mongini T, Rodolico C, Aguennouz M, Barca E, Amati A, Cassandrini D, Serlenga L, Vita G, Toscano A. Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). Neuromuscul Disord Apr;22(4): Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, Moggio M, Filosto M, Sette E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Di Iorio G, Siciliano G, Donati MA, Carubbi F, Ermani M, Mongini T, Toscano A Italian GSDII Group; Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme 8/9/14 European Union, Page 2 / 5

3 replacement therapy for up to 4 years. J Neurol May;259(5): Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A. Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. BMC Med Genet Aug 16;13(1): Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, Pane M, Previtali SC, Torrente Y, Gazzerro E, Motta MC, Grieco GS, Napolitano S, Magri F, D'Amico A, Astrea G, Messina S, Sframeli M, Vita GL, Boffi P, Mongini T, Ferlini A, Gualandi F, Soraru' G, Ermani M, Vita G, Battini R, Bertini E, Comi GP, Berardinelli A, Minetti C, Bruno C, Mercuri E, Politano L, Angelini C, Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Hoffman EP, Pegoraro E Neurology Jul 10;79(2): Pane M, Messina S, Vasco G, Foley AR, Morandi L, Pegoraro E, Mongini T, D'Amico A, Bianco F, Lombardo ME, Scalise R, Bruno C, Berardinelli A, Pini A, Moroni I, Mora M, Toscano A, Moggio M, Comi G, Santorelli FM, Bertini E, Muntoni F, Mercuri E. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord Aug;22(8): Benedetti S, Bernasconi P, Bertini E, Biagini E, Boriani G, Capanni C, Carboni N, Columbaro M, D'Adamo M, D'Amico A, D'Apice MR, Fontana M, Gambineri A, Lattanzi G, Liguori R, Maraldi NM, Mazzanti L, Mercuri E, Mongini T, Morandi LO, Neri I, Nigro G, Novelli G, Ortolani M, Pasquali R, Pini A, Petrini S, Politano L, Previtali S, Pucci L, Rapezzi C, Ricci G, Rodolico C, Sbraccia P, Scarano E, Siciliano G, Squarzoni S, Toscano A, Vercelli L, Ziacchi M. The empowerment of translational research: Lessons from laminopathies. Orphanet J Rare Dis Jun 12;7(1): Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; INQoL Group. Measuring quality of life impairment in skeletal muscle channelopathies. Eur J Neurol Nov;19(11): Lerario A, Bonfiglio S, Sormani M, Tettamanti A, Marktel S, Napolitano S, Previtali S, Scarlato M, Natali-Sora M, Mercuri E, Bresolin N, Mongini T, Comi G, Gatti R, Ciceri F, Cossu G, Torrente Y. Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures. BMC Neurol Sep 13;12: Tiziano FD, Lomastro R, Di Pietro L, Barbara Pasanisi M, Fiori S, Angelozzi C, Abiusi E, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Vasco G, Vita G, Luca Vita G, Messina S, Politano L, Passamano L, Di Gregorio G, Montomoli C, Orsi C, Campanella A, Mantegazza R, Morandi L. Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. Eur J Hum Genet Oct Siciliano G, Mongini T, Toscano A. Editorial. Neuromuscul Disord Dec;22 Suppl 3:S Caroppo P, D'Agata F, Mignarri A, Stromillo ML, Dotti MT, Mongini T. Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. Neurol Sci Dec 5. [Epub ahead of print] 21. Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases. Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. Neuromuscul Disord Dec;22 Suppl 3:S 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, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E. 24 month longitudinal data in ambulant boys with duchenne muscular dystrophy. PLoS One. 2013;8(1):e doi: /journal.pone Epub 2013 Jan Racca F, Mongini T, Wolfler A, Vianello A, Cutrera R, Del Sorbo L, Capello EC, Gregoretti C, Massa R, De Luca D, Conti G, Tegazzin V, Toscano A, Ranieri VM Recommendations for anesthesia and perioperative management of patients with neuromuscular disorders. Minerva Anestesiol Feb 18. [Epub ahead of print] 24. Spada M, Porta F, Vercelli L, Pagliardini V; Chiadò-Piat L, Boffi P, Pagliardini S, Remiche G, Ronchi D, Comi G, Mongini T: Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperckemia. Mol Gen Metab, 2013 in press 25. 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): /9/14 European Union, Page 3 / 5

4 26. Kyriakides T, Angelini C, Schaefer J, Mongini T, Siciliano G, Sacconi S, Joseph J, Burgunder JM, Bindoff LA, Vissing J, de Visser M, Hilton-Jones D. EFNS review on the role of muscle biopsy in the investigation of myalgia. Eur J Neurol Jul;20(7): Vianello A, Semplicini C, Paladini L, Concas A, Ravaglia S, Servidei S, Toscano A, Mongini T, Angelini C, Pegoraro E. Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. Lung Oct; 191(5): Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R. Large scale genotypephenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain Nov;136(Pt 11): Projects Since 1990 participation to clinical research projects funded by Telethon Italy, including natural history of DMD, phenotype-genotype correlation in limb-girdle MD, FSHD, congenital myopathies and congenital muscular dystrophies. Participation to five therapeutical trials (phenylbutyrate in SMA, gabapentin insma, salbutamol in SMA; rhgaa in Pompe disease; FOR-DMD) Database for mitochondrial myopathies, LGMD, DM1 Vice-coordinator of the Italian Group for Glycogenosis 2 Memberships World Muscle Society (WMS) Italian Society of Neurology (SIN) Italian Association of Myology (AIM) Founder 2001, Secretary , President Italian Association of Muscular Dystrophy Patiens (UILDM), Scientific Commettee 1999; President Present Co-Chair of Muscle and Neuromuscular Junction Disorders panel of EFNS/ENS Scientific Conferences TEACHING COURSE del Congresso Annuale della European Federation of Neurological Societies: Docente, Statin Myopathy, Budapest, Settembre 2011 CONGRESSO NAZIONALE SIN, Torino ottobre 2011: Simposio Le malattie neurometaboliche: l importanza della diagnosi precoce, Relatore CONGRESSO NAZIONALE AIM, Cagliari maggio 2011 Organizzatore e Moderatore; Relatore: Aspetti clinici della atrofie muscolari spinali INTERNATIONAL MEETING: DUCHENNE AND BECKER MUSCULAR DYSTROPHY, Parent Project, Roma Febbraio 2010: Relatore: La distrofia di Duchenne e Becker: la diagnosi clinica e molecolare MEETING: LA DISTROFIA MUSCOLARE DI DUCHENNE: DALLA PATOGENESI ALLA PRESA IN CARICO, SINPIA, Bologna, febbraio 2011 Relatore: La distrofia muscolare nella Consulta Ministeriale MEETING: Le malattie neuromuscolari: stato dell arte, Brescia, febbraio 2011; Relatore: La terapia enzimatica sostitutiva nella Glicogenosi di tipo II: i dati italiani LAMINOPATIE: TANTE MALATTIE UN UNICO GENE, Istituto Ortopedico Rizzoli, marzo 2011, Moderatore Presentazione del REGISTRO PER LE MALATTIE MITOCONDRIALI, Università di Pisa, dicembre 2011, Moderatore MIOPATIE CONGENITE: Percorsi clinico-assistenziali e diagnostici, Istituto Gaslini di Genova, 20 gennaio 2012, Moderatore Le malattie NEUROMUSCOLARI nei primi mesi/anni di vita: DALLA DIAGNOSI ALLA PRESA IN CARICO Pavia, marzo 2012, Moderatore CONGRESSO REGIONALE SIN SICILIA, 4-5 maggio 2012, Palermo; Relatore: IperCKemia asintomatica: e sempre indicata la biopsia? Workshop congiunto AIM-SIAARTI, 12 Congresso Nazionale Associazione Italiana di Miologia, Scicli (RG), Maggio 2012, Relatore Ipertemia maligna e insufficienza d organo nelle miopatie H 8/9/14 European Union, Page 4 / 5

5 Other Relevant Information 8/9/14 European Union, Page 5 / 5