Tiziana Mongini

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
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October 2012–Present
Associate Professor
Department of Neurosciences Rita Levi Montalcini, (Italy)
Chief, Neuromuscular Unit and Laboratory (same as above)
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EDUCATION AND TRAINING
October 1975–July 1981
Student
Medical School, University of Torino, (Italy)
Pathology, Ultrastructure laboratory
Internal Medicine
General Neurology
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February 1982–November 1985
Resident
Neurological Clinic, University of Torino, (Italy)
Neuropathology
Neuromuscular Disorders
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1982–1983
Research Fellow
Columbia University, (United States)
Cell coltures; translational research on muscle pathology; genetic analysys
Clinical training
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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)
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Curriculum Vitae
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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: 565-71, 2008 IF 2.667
71. 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):1802-1809, 2009 IF 6.014
2. 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): 310-319,
2009 IF 6.273
3. 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 2.667
4. 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, 2010
5. 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):898-903, 2010 IF 6.014
6. 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):712-716, 2010 IF 2.667
7. 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):1178-1187, 2010
8. 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. 2011 Jul
19;77(3):250-6.
9. 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. 2012 Jun;45(6):831-4
10. 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. 2012 Apr;22(4):325-30.
11. 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
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Tiziana Mongini
replacement therapy for up to 4 years. J Neurol. 2012 May;259(5):952-8.
12. 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. 2012 Aug 16;13(1):73.
13. 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.
2012 Jul 10;79(2):159-62
14. 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. 2012 Aug;22(8):685-9.
15. 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. 2012 Jun 12;7(1):37
16. 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. 2012 Nov;19(11):1470-6
17. 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. 2012 Sep 13;12:91.
18. 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. 2012 Oct 17
19. Siciliano G, Mongini T, Toscano A. Editorial. Neuromuscul Disord. 2012 Dec;22 Suppl 3:S155.
20. 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.
2012 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. 2012
Dec;22 Suppl 3:S226-9.
22. 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):e52512. doi: 10.1371/journal.pone.0052512. Epub 2013 Jan 11.
23. 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. 2013
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. 2013 May 28;80(22):2049-2054.
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Tiziana Mongini
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. 2013 Jul;20(7):997-1005
27. 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. 2013 Oct; 191(5): 537-44.
28. 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. 2013 Nov;136(Pt 11):3408-17.
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 2001-2006, President 2006-2009
Italian Association of Muscular Dystrophy Patiens (UILDM), Scientific Commettee 1999; President
2007-2011
Present Co-Chair of Muscle and Neuromuscular Junction Disorders panel of EFNS/ENS
2011 - 2012 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, 23-24 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), 17 – 19 Maggio 2012 , Relatore Ipertemia maligna e insufficienza d’organo nelle miopatie
H
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Tiziana Mongini
Other Relevant Information
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