Curriculum

ESPERIENZE DI TRIAL CLINICI come Principal Investigator (ultimi 10 anni)

1. Tiziano FD, Lomastro R, Abiusi E, Pasanisi MB, Di Pietro L, Fiori S, Baranello G, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Mercuri E, Vasco G, Pane M, Vita G, Vita GL, Messina S, Petillo R, Passamano L, Politano L, Campanella A, Mantegazza R, Morandi L. Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol. Journal of Medical Genetics 2019;56:293-300.
2. Vita GL, Stancanelli C, Gentile L, Barcellona C, Russo M, Di Bella G, Vita G, Mazzeo A. 6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR). Neuromuscular Disorders 2019;29:213-220.
3. Vita G, Vita GL, Stancanelli C, Gentile L, Russo M, Mazzeo A. Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: Peripheral neuropathies. Neurological Sciences 2019;40:661-669.
4. Vita G, Vita GL, Musumeci O, Rodolico C, Messina S. Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: Diseases of motor neuron and skeletal muscle. Neurological Sciences 2019;40:671-681.
5. Pazzaglia C, Padua L, Pareyson D, Schenone A, Aiello A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Coraci D, Gemignani F, Vitetta F, Quattrone A, Mazzeo A, Russo M, Vita G; CMT-TRIAAL Group. Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study. Neuromuscular Disorders 2019;29:310-316.
6. Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A. Expanding the spectrum of genes responsible for hereditary motor neuropathies. Journal of Neurology, Neurosurgery and Psychiatry 2019;90:1171-1179.
7. Conrado DJ, Larkindale J, Berg A, et al. Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy. Journal of Pharmacokinetics & Pharmacodynamics 2019;46:441-455.
8. Pane M, Coratti G, Sansone VA, Messina S, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D’Amico A, Bravetti C, Berti B, Brigati G, Tacchetti P, Salmin F, de Sanctis R, Lucibello S, Piastra M, Genovese O, Bertini E, Vita G, Tiziano FD, Mercuri E, on behalf of the Italian EAP working group. Nusinersen in type 1 Spinal Muscular Atrophy: 12-month real world data. Annals of Neurology 2019;86:443-451.
9. Brogna C, Coratti G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group. Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53. PLoS One 2019 Jun 25;14(6):e0218683. doi: 10.1371/journal.pone.0218683. eCollection 2019.
10. Mercuri E, Finkel R, Scoto M, Hall S, Eaton S, Rashid A, Balashkina J, Coratti G, Pera MC, Samsuddin S, Civitello M, Muntoni F, De Vivo DC, Darras BT, Day J, Montes J, Glanzmann A, Pasternack A, Salazar R, Dunaway Young S, Duong T, Pane M, Berti B, Palermo C, Leone D, Frongia A, Antonaci L, De Sanctis R, Messina S, Bertini E, Vita G, Bruno C, Sframeli M, Sansone VA, Albamonte E, D'Amico A. Development of an academic disease registry for spinal muscular atrophy. Neuromuscular Disorders 2019;29:794-799.
11. Minutoli F, Di Bella G, Mazzeo A, Laudicella R, Gentile L, Russo M, Vita G, Baldari S. Serial scanning with 99mTc-3, 3-diphosphono-1, 2-propanodicarboxylic acid (99mTc-DPD) for early detection of cardiac amyloid deposition and prediction of clinical worsening in subjects carrying a transthyretin gene mutation. Journal of Nuclear Cardiology 2019 Nov 18. doi: 10.1007/s12350-019-01950-2. [Epub ahead of print]
12. Brigandi' A, Terranova C, Toscano A, Vita G. Acute ischemic stroke due to endocarditis from Brucella infection. Neurological Sciences 2020;41:953-954.
13. McDonald CM, Sajeev G, Yao Z, et al. Deflazacort versus prednisone treatment for Duchenne muscular dystrophy: a meta-analysis of disease progression rates in recent multicenter clinical trials. Muscle Nerve 2020;61:26-35.
14. Racca F, Vianello A, Mongini T, Ruggeri P, Versaci A, Vita GL, Vita G. Practical approach to respiratory emergencies in neurological diseases. Neurological Sciences 2020;41:497-508.
15. Gentile L, Russo M, Fabrizi GM, Taioli F, Ferrarini M, Testi S, Alfonzo A, Aguennouz M, Toscano A, Vita G, Mazzeo A. Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center. Neurological Sciences 2020;41:1239-1243.
16. Sansone VA, Pirola A, Albamonte E, Pane M, Lizio A, D'Amico A, Catteruccia M, Cutrera R, Bruno C, Pedemonte M, Messina S, Rao F, Roma E, Salmin F, Coratti G, Di Bari A, De Sanctis R, Pera CM, Sframeli M, Piastra M, Macagno F, Vita G, Bertini E, Mercuri E. Respiratory needs in patients with type 1 spinal muscular atrophy treated with nusinersen. Journal of  Pediatrics 2020;219:223-228.
17. Vita GL, Vita G. Is it the right time for an infant screening for Duchenne muscular dystrophy? Neurological Sciences 2020;41:1677-1683.
18. Vita GL, Stancanelli C, La Foresta S, Faraone C, Sframeli M, Ferrero A, Fattore C, Galbo R, Ferraro M, Ricci G, Cotti Piccinelli S, Pizzighello S, Filosto M, Martinuzzi A, Padua L, Trimarchi G, Siciliano G, Mongini T, Lombardo ME, Berardinelli A, Vita G. Psychosocial impact of sport activity in neuromuscular disorders. Neurological Sciences 2020 Sep;41(9):2561-2567.
19. Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A. The genetic landscape of dystrophin mutations in Italy: a nationwide study. Frontiers in Genetics 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020.
20. Gentile L, Di Bella G, Minutoli F, Cucinotta F, Obici L, Mussinelli R, Arimatea I, Russo M, Toscano A, Vita G, Mazzeo A. Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: neurological and cardiological features. Journal of the Peripheral Nervous System 2020;25:273-278.
21. Gentile L, Mazzeo A, Russo M, Arimatea I, Vita G, Toscano A. Long-term treatment with subcutaneous immunoglobulin in patients with chronic inflammatory  demyelinating polyradiculoneuropathy: a follow-up period up to 7 years. Scientific Reports 2020 May 13;10(1):7910. doi: 10.1038/s41598-020-64699-6.
22. Vita GL, Aguennouz M, Sframeli M, Sanarica F, Mantuano P, Oteri R, Polito F, Licata N, Romeo S, Distefano MG, La Rosa M, Bonanno C, Nicocia G, Vita G, De Luca A, Messina S. Effect of exercise on telomere length and telomere proteins expression in mdx mice. Molecular and Cellular Biochemistry 2020;470:189-197.
23. Russo M, Gentile L, Toscano A, Vita G, Mazzeo A. From a misdiagnosis of anorexia nervosa to a dramatic patisiran-induced improvement in a patient with ATTRE89Q amyloidosis. Amyloid 2020 Dec;27(4):279-280.
24. Brannagan TH, Wang AK, Coelho T, Waddington Cruz M, Polydefkis MJ,  Dyck PJ, Plante-Bordeneuve V, Berk JL, Barroso F, Merlini G, Conceição I, Hughes SG, Kwoh J, Jung SW, Guthrie S, Pollock M, Benson MD, Gertz M, Drachman B, Gorevic P, Heitner S, Scheinberg M, Schmidt H, Whelan C, Adams A, Campistol Plana JM, Gamez Carbonell J, Gane E, Kristen A, Obici L, Salvi S, Souza Bulle Oliveira A, Vita G. Early data on long-term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2-year update from the open-label extension of the NEURO-TTR trial. European Journal of Neurology 2020 Aug;27(8):1374-1381.
25. Vita GL, Aguennouz M, Polito F, Oteri R, Russo M, Gentile L,  Barbagallo C, Ragusa M, Rodolico C, Di Giorgio RM, Toscano A, Vita G, Mazzeo A. Circulating microRNAs profile in patients with transthyretin variant amyloidosis. Frontiers in Molecular Neuroscience 2020;13:102. doi: 10.3389/fnmol.2020.00102.
26. Russo M, Obici L, Bartolomei I, Cappelli F, Luigetti M, Fenu S, Cavallaro T, Chiappini MG, Gemelli C, Pradotto LG, Manganelli F, Leonardi L, My F, Sampaolo S, Briani C, Gentile L, Stancanelli C, Di Buduo E, Pacciolla P, Salvi F, Casagrande S, Bisogni G, Calabrese D, Vanoli F, Di Iorio G, Antonini G, Santoro L, Mauro A, Grandis M, Di Girolamo M, Fabrizi GM, Pareyson D, Sabatelli M, Perfetto F, Rapezzi C, Merlini G, Mazzeo A, Vita G. ATTRv amyloidosis Italian Registry: clinical and epidemiological data. Amyloid 2020 Dec;27(4):259-265.
27. Rodolico C, Bonanno C, Toscano A, Vita G. MuSK-Associated Myasthenia Gravis: Clinical Features and Management. Frontiers in Neurology 2020 Jul 23;11:660. doi: 10.3389/fneur.2020.00660.
28. Pisciotta C, Calabrese D, Santoro L, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Cavallaro T, Grandis M, Previtali SC, Allegri I, Padua L, Pazzaglia C, Saveri P, Quattrone A, Valentino P, Tozza S, Gentile L, Russo MM, Mazzeo A, Trapasso MC, Parazzini F, Vita G, Pareyson D; Italian CMT Network. Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry. Neurology 2020 Dec 15;95(24):e3180-e3189.
29. Russo M, Lunetta C, Zuccarino R, Vita GL, Sframeli M, Lizio A, La Foresta S, Faraone C, Sansone VA, Vita G, Messina S. The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis. Scientific Reports 2020;10(1):15580.
30. Luigetti M, Romozzi M, Bisogni G, Cardellini D, Cavallaro T, Di Paolantonio A, Fabrizi GM, Fenu S, Gentile L, Grandis M, Marucci G, Massucco S, Mazzeo A, Pareyson D, Romano A, Russo M, Schenone A, Tagliapietra M, Tozza S, Vita G, Sabatelli M. hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers. Brain Sciences 2020 Oct 26;10(11):780.
31. Mercuri E, Muntoni F, Osorio AN, et al. Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. Journal of Comparative Effectiveness Research 2020;9:341-360.
32. Russo M, Gentile L, Toscano A, Aguennouz M, Vita G, Mazzeo A. Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects. Brain Sciences 2020 Dec 9;10(12):952.
33. Oreto L, Vita GL, Mandraffino G, Carerj S, Calabrò MP, Manganaro R, Cusmà-Piccione M, Todaro MC, Sframeli M, Cinquegrani M, Toscano A, Vita G, Messina S, Zito C. Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance. Acta Myologica 2020 Dec 1;39(4):191-199.
34. Adams D, Polydefkis M, González-Duarte A, et al. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Lancet Neurology 2021;20:49-59.
35. Vita GL, Sframeli M, Licata N, Bitto A, Romeo S, Frisone F, Ciranni A, Pallio G, Mannino F, Aguennouz M, Rodolico C, Squadrito F, Toscano A, Messina S, Vita G. A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy. Brain Sciences 2021 Jan 16;11(1):115.
36. Russo M, Bonanno C, Profazio C, La Foresta S, Faraone C, Lizio A, Vita GL, Sframeli M, Aricò I, Ruggeri P, Toscano A, Vita G, Lunetta C, Messina S. Which are the factors influencing NIV adaptation and tolerance in ALS patients? Neurological Sciences 2021;42:1023-1029.
37. Magliano L, Obici L, Sforzini C, Mazzeo A, Russo M, Cappelli F, Fenu S, Luigetti M, Tagliapietra M, Gemelli C, Leonardi L, Tozza S, Pradotto LG, Citarelli G, Mauro A, Manganelli F, Antonini G, Grandis M, Fabrizi GM, Sabatelli M, Pareyson D, Perfetto F, Merlini G, Vita G, Bisogni G, Calabrese D, Cardellini D, Casagrande S, Cavallaro T, Di Buduo E, Di Paolantonio A, Gentile L, Graceffa A, Massucco S, Milesi A, Morino S, Mussinelli R, Saveri P, Severi D. Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy. Orphanet Journal of Rare Diseases 2021 Apr 7;16(1):163.
38. Waddington-Cruz M, Ando Y, Amass L, Kiszko J, Chapman D, Sekijima Y, Badelita S, Barroso FA, Coelho T, Conceicao I, Darstein F, Dispenzieri A, Torrón RF, Pavia PG, Gess B, Costello JG, Gonzalez-Duarte Briseno MA, Gonzalez Moreno J, Gottlieb S, Jeon E-S, Kristen A, LoRusso S, Luigetti M, Marburger T, Munoz Beamud F, Nienhuis H, Oh J, Parman Y, Plante-Bordeneuve V, Polydefkis M, Quan D, Schmidt H, Tarne I, Van Cleemput J, Vita G. Feasibility of assessing progression of transthyretin amyloid polyneuropathy using nerve conduction studies: findings from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Journal of the Peripheral Nervous System 2021 Apr 12. doi: 10.1111/jns.12444. Epub ahead of print.
39. Bianchi L, Sframeli M, Vantaggiato L, Vita GL, Ciranni A, Polito F, Oteri R, Gitto E, Di Giuseppe F, Angelucci S, Versaci A, Messina S, Vita G, Bini L, Aguennouz M. Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients. International Journal of Molecular Sciences 2021; 22:4329.
40. Gentile L, Russo M, Luigetti M, Bisogni G, Di Paolantonio A, Romano A, Guglielmino V, Arimatea I, Sabatelli M, Toscano A, Vita G, Mazzeo A. Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy. Brain Sciences 2021; 11:515.
41. Russo M, Gentile L, Di Stefano V, Di Bella G, Minutoli F, Toscano A, Brighina F, Vita G, Mazzeo A. Use of Drugs for ATTRv Amyloidosis in the Real World: How Therapy Is Changing Survival in a Non-Endemic Area. Brain Sciences 2021 Apr 27;11(5):545.
42. Gentile L, Russo M, Rodolico C, Arimatea I, Vita G, Toscano A, Mazzeo A. Long-term treatment with subcutaneous immunoglobulin in multifocal motor neuropathy. Scientific Reports 2021 Apr 28;11(1):9216.

Curriculum

CURRICULUM VITAE
Place and date of birth: Messina, Italy, January 2^nd, 1952.
#3516 at Messina MD Register
Present address: Unit of Neurology and Neuromuscular Diseases, AOU Policlinico "G. Martino", Dept. of Clinical and Experimental Medicine, Via Consolare Valeria 1, 98125 Messina, Italy
Tel. +39 090 2217309        e-mail: giuseppe.vita@unime.it
 
EDUCATION
1980    Board in Neurology, Faculty of Medicine, University of Messina (50/50 cum laude)
1976    Medical degree, Faculty of Medicine, University of Messina (110/110 cum laude)
    
POST-GRADUATE TRAINING
1985-86 Post-doctoral Certification in Neuromuscular Diseases, University of Southern California, Los Angeles, USA
1978-79 Research Fellow, Muscular Dystrophy Group Labs, University of Newcastle upon Tyne, UK
 
PRESENT and PAST HOSPITAL APPOINTMENTS
2009-now   Director, Unit of Neurology and Neuromuscular Diseases, University Hospital of Messina
2009-2016  Director, Clinical Department of Neurosciences
2000-2009  Director, Unit of Clinical Neurobiology and Neuromuscular Diseases
1994-2000  Director, Unit of Clinical Neurophysiology
1982-1994  Clinical Assistant, Institute of Neurological and Neurosurgical Sciences
 
PRESENT and PAST ACADEMIC POSITIONS
2015-2018  Member, Academic Senate, University of Messina
2012-2015  Chairman, Department of Neurosciences
2006-2012  Chairman, Dept. of Neurosciences, Psychiatry and Anaesthesiology
1996-2000  Chairman, Institute of Neurological and Neurosurgical Sciences
Since 1994 Full Professor of Neurology, University of Messina
1980-1994  Assistant Professor in Neurology, University of Messina
 
SCIENTIFIC APPOINTMENTS
President, Italian Association of Neuropathology (2001-2002)
Founder Member and first President, Italian Association of Myology (2000-2003)
President, Italian Association for Autonomic Nervous System (2008-2012)
Member, Executive Board of the World Muscle Society (2007-2010)
Associate Editor, “Neurological Sciences” (2010-2017)
Corresponding Fellow, American Neurological Association (since 2000)

                                                                                                                                         

SCIENTIFIC FIELDS OF INTEREST

Neuromuscular diseases, muscular dystrophies, spinal muscular atrophies, genetic and acquired neuropathies, autonomic neuropathies.

Recipient of research funds from Telethon Foundation, Italian Drug Agency (AIFA) and Italian Health Ministry. Partner of Specific Support Action funded by European Commission, Sixth Framework Programme (2005).
Grantholder of the international TEMPUS MEDA didactic project "Education Curricula Project in Rehabilitation", funded by the European Commission (2006-2009).
 
CLINICAL TRIALS EXPERIENCE (last 10 years)
Phase II, randomized double blind placebo-controlled study of tolerance and efficacy of salbutamol in adult patients with spinal muscular atrophy type III
A phase III, randomised, double-blind, placebo-controlled clinical trial to assess the efficacy and safety of multiple subcutaneous doses of GSK2402968 in subjects with Duchenne muscular dystrophy (DMD114044)
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 + OLE study
An open-label extension study of the long-term safety, tolerability and efficacy of GSK2402968 in subjects with Duchenne muscular dystrophy (DMD114349)
A two-part study to assess the safety and tolerability, pharmacokinetics, and effects on histology and different clinical parameters of Givinostat in ambulant children with Duchenne muscular dystrophy
Duchenne muscular dystrophy: double-blind randomized trial to find optimum steroid regimen (FOR-DMD)
A phase 3 efficacy and safety study of Ataluren (PTC124) in patients with nonsense mutation dystrophinopathy
APOLLO: A Phase 3 Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of ALN-TTR02 in Transthyretin (TTR)-Mediated Polyneuropathy (Familial Amyloidotic Polyneuropathy-FAP) + OLE study
A Phase 2/3 Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of ISIS 420915 in Patients with Familial Amyloid Polyneuropathy + OLE study
A phase 3, randomized, double-blind, sham-procedure controlled study to assess the clinical efficacy and safety of ISIS 396443 administered intrathecally in patients with later-onset Spinal Muscular Atrophy (CS4 + CS11 studies)
A prospective, multicenter, randomised, double-blind, placebo-controlled, parallel groups, phase 2/3 study to compare the efficacy and safety of masitinib versus placebo in the treatment of patients suffering from Amyotrophic Lateral Sclerosis
Randomised, double blind, placebo controlled, multicentre study to evaluate the efficacy and safety of Givinostat in ambulant patients with Duchenne Muscular Dystrophy.
A Phase III Double-blind, Randomized, Placebo-Controlled Study assessing the Efficacy, Safety and Tolerability of Idebenone in Patients with Duchenne Muscular Dystrophy Receiving Glucocorticoid Steroids
A Double-Blind, Placebo-Controlled, Multicenter Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy
A two-part seamless, multi-center randomized, placebo-controlled, double-blind study to investigate the safety, tolerability, pharmacokinetics, pharmacodynamics and efficacy of RO7034067 in type 2 and 3 spinal muscular atrophy patients
Phase 3, Open Label, Single Arm, Single Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 with One or Two SMN2 Copies Delivering AVXS 101 by Intravenous Infusion
A multicenter, double-blind, placebo-controlled, phase 1 study of WVE-210201 administered intravenously to patients with Duchenne muscular dystrophy
 

PUBLICATIONS 2019-2021
1. Tiziano FD, Lomastro R, Abiusi E, Pasanisi MB, Di Pietro L, Fiori S, Baranello G, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Mercuri E, Vasco G, Pane M, Vita G, Vita GL, Messina S, Petillo R, Passamano L, Politano L, Campanella A, Mantegazza R, Morandi L. Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol. Journal of Medical Genetics 2019;56:293-300.
2. Vita GL, Stancanelli C, Gentile L, Barcellona C, Russo M, Di Bella G, Vita G, Mazzeo A. 6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR). Neuromuscular Disorders 2019;29:213-220.
3. Vita G, Vita GL, Stancanelli C, Gentile L, Russo M, Mazzeo A. Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: Peripheral neuropathies. Neurological Sciences 2019;40:661-669.
4. Vita G, Vita GL, Musumeci O, Rodolico C, Messina S. Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: Diseases of motor neuron and skeletal muscle. Neurological Sciences 2019;40:671-681.
5. Pazzaglia C, Padua L, Pareyson D, Schenone A, Aiello A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Coraci D, Gemignani F, Vitetta F, Quattrone A, Mazzeo A, Russo M, Vita G; CMT-TRIAAL Group. Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study. Neuromuscular Disorders 2019;29:310-316.
6. Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A. Expanding the spectrum of genes responsible for hereditary motor neuropathies. Journal of Neurology, Neurosurgery and Psychiatry 2019;90:1171-1179.
7. Conrado DJ, Larkindale J, Berg A, et al. Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy. Journal of Pharmacokinetics & Pharmacodynamics 2019;46:441-455.
8. Pane M, Coratti G, Sansone VA, Messina S, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D’Amico A, Bravetti C, Berti B, Brigati G, Tacchetti P, Salmin F, de Sanctis R, Lucibello S, Piastra M, Genovese O, Bertini E, Vita G, Tiziano FD, Mercuri E, on behalf of the Italian EAP working group. Nusinersen in type 1 Spinal Muscular Atrophy: 12-month real world data. Annals of Neurology 2019;86:443-451.
9. Brogna C, Coratti G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group. Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53. PLoS One 2019 Jun 25;14(6):e0218683. doi: 10.1371/journal.pone.0218683. eCollection 2019.
10. Mercuri E, Finkel R, Scoto M, Hall S, Eaton S, Rashid A, Balashkina J, Coratti G, Pera MC, Samsuddin S, Civitello M, Muntoni F, De Vivo DC, Darras BT, Day J, Montes J, Glanzmann A, Pasternack A, Salazar R, Dunaway Young S, Duong T, Pane M, Berti B, Palermo C, Leone D, Frongia A, Antonaci L, De Sanctis R, Messina S, Bertini E, Vita G, Bruno C, Sframeli M, Sansone VA, Albamonte E, D'Amico A. Development of an academic disease registry for spinal muscular atrophy. Neuromuscular Disorders 2019;29:794-799.
11. Minutoli F, Di Bella G, Mazzeo A, Laudicella R, Gentile L, Russo M, Vita G, Baldari S. Serial scanning with 99mTc-3, 3-diphosphono-1, 2-propanodicarboxylic acid (99mTc-DPD) for early detection of cardiac amyloid deposition and prediction of clinical worsening in subjects carrying a transthyretin gene mutation. Journal of Nuclear Cardiology 2019 Nov 18. doi: 10.1007/s12350-019-01950-2. [Epub ahead of print]
12. Brigandi' A, Terranova C, Toscano A, Vita G. Acute ischemic stroke due to endocarditis from Brucella infection. Neurological Sciences 2020;41:953-954.
13. McDonald CM, Sajeev G, Yao Z, et al. Deflazacort versus prednisone treatment for Duchenne muscular dystrophy: a meta-analysis of disease progression rates in recent multicenter clinical trials. Muscle Nerve 2020;61:26-35.
14. Racca F, Vianello A, Mongini T, Ruggeri P, Versaci A, Vita GL, Vita G. Practical approach to respiratory emergencies in neurological diseases. Neurological Sciences 2020;41:497-508.
15. Gentile L, Russo M, Fabrizi GM, Taioli F, Ferrarini M, Testi S, Alfonzo A, Aguennouz M, Toscano A, Vita G, Mazzeo A. Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center. Neurological Sciences 2020;41:1239-1243.
16. Sansone VA, Pirola A, Albamonte E, Pane M, Lizio A, D'Amico A, Catteruccia M, Cutrera R, Bruno C, Pedemonte M, Messina S, Rao F, Roma E, Salmin F, Coratti G, Di Bari A, De Sanctis R, Pera CM, Sframeli M, Piastra M, Macagno F, Vita G, Bertini E, Mercuri E. Respiratory needs in patients with type 1 spinal muscular atrophy treated with nusinersen. Journal of  Pediatrics 2020;219:223-228.
17. Vita GL, Vita G. Is it the right time for an infant screening for Duchenne muscular dystrophy? Neurological Sciences 2020;41:1677-1683.
18. Vita GL, Stancanelli C, La Foresta S, Faraone C, Sframeli M, Ferrero A, Fattore C, Galbo R, Ferraro M, Ricci G, Cotti Piccinelli S, Pizzighello S, Filosto M, Martinuzzi A, Padua L, Trimarchi G, Siciliano G, Mongini T, Lombardo ME, Berardinelli A, Vita G. Psychosocial impact of sport activity in neuromuscular disorders. Neurological Sciences 2020 Sep;41(9):2561-2567.
19. Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A. The genetic landscape of dystrophin mutations in Italy: a nationwide study. Frontiers in Genetics 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020.
20. Gentile L, Di Bella G, Minutoli F, Cucinotta F, Obici L, Mussinelli R, Arimatea I, Russo M, Toscano A, Vita G, Mazzeo A. Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: neurological and cardiological features. Journal of the Peripheral Nervous System 2020;25:273-278.
21. Gentile L, Mazzeo A, Russo M, Arimatea I, Vita G, Toscano A. Long-term treatment with subcutaneous immunoglobulin in patients with chronic inflammatory  demyelinating polyradiculoneuropathy: a follow-up period up to 7 years. Scientific Reports 2020 May 13;10(1):7910. doi: 10.1038/s41598-020-64699-6.
22. Vita GL, Aguennouz M, Sframeli M, Sanarica F, Mantuano P, Oteri R, Polito F, Licata N, Romeo S, Distefano MG, La Rosa M, Bonanno C, Nicocia G, Vita G, De Luca A, Messina S. Effect of exercise on telomere length and telomere proteins expression in mdx mice. Molecular and Cellular Biochemistry 2020;470:189-197.
23. Russo M, Gentile L, Toscano A, Vita G, Mazzeo A. From a misdiagnosis of anorexia nervosa to a dramatic patisiran-induced improvement in a patient with ATTRE89Q amyloidosis. Amyloid 2020 Dec;27(4):279-280.
24. Brannagan TH, Wang AK, Coelho T, Waddington Cruz M, Polydefkis MJ,  Dyck PJ, Plante-Bordeneuve V, Berk JL, Barroso F, Merlini G, Conceição I, Hughes SG, Kwoh J, Jung SW, Guthrie S, Pollock M, Benson MD, Gertz M, Drachman B, Gorevic P, Heitner S, Scheinberg M, Schmidt H, Whelan C, Adams A, Campistol Plana JM, Gamez Carbonell J, Gane E, Kristen A, Obici L, Salvi S, Souza Bulle Oliveira A, Vita G. Early data on long-term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2-year update from the open-label extension of the NEURO-TTR trial. European Journal of Neurology 2020 Aug;27(8):1374-1381.
25. Vita GL, Aguennouz M, Polito F, Oteri R, Russo M, Gentile L,  Barbagallo C, Ragusa M, Rodolico C, Di Giorgio RM, Toscano A, Vita G, Mazzeo A. Circulating microRNAs profile in patients with transthyretin variant amyloidosis. Frontiers in Molecular Neuroscience 2020;13:102. doi: 10.3389/fnmol.2020.00102.
26. Russo M, Obici L, Bartolomei I, Cappelli F, Luigetti M, Fenu S, Cavallaro T, Chiappini MG, Gemelli C, Pradotto LG, Manganelli F, Leonardi L, My F, Sampaolo S, Briani C, Gentile L, Stancanelli C, Di Buduo E, Pacciolla P, Salvi F, Casagrande S, Bisogni G, Calabrese D, Vanoli F, Di Iorio G, Antonini G, Santoro L, Mauro A, Grandis M, Di Girolamo M, Fabrizi GM, Pareyson D, Sabatelli M, Perfetto F, Rapezzi C, Merlini G, Mazzeo A, Vita G. ATTRv amyloidosis Italian Registry: clinical and epidemiological data. Amyloid 2020 Dec;27(4):259-265.
27. Rodolico C, Bonanno C, Toscano A, Vita G. MuSK-Associated Myasthenia Gravis: Clinical Features and Management. Frontiers in Neurology 2020 Jul 23;11:660. doi: 10.3389/fneur.2020.00660.
28. Pisciotta C, Calabrese D, Santoro L, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Cavallaro T, Grandis M, Previtali SC, Allegri I, Padua L, Pazzaglia C, Saveri P, Quattrone A, Valentino P, Tozza S, Gentile L, Russo MM, Mazzeo A, Trapasso MC, Parazzini F, Vita G, Pareyson D; Italian CMT Network. Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry. Neurology 2020 Dec 15;95(24):e3180-e3189.
29. Russo M, Lunetta C, Zuccarino R, Vita GL, Sframeli M, Lizio A, La Foresta S, Faraone C, Sansone VA, Vita G, Messina S. The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis. Scientific Reports 2020;10(1):15580.
30. Luigetti M, Romozzi M, Bisogni G, Cardellini D, Cavallaro T, Di Paolantonio A, Fabrizi GM, Fenu S, Gentile L, Grandis M, Marucci G, Massucco S, Mazzeo A, Pareyson D, Romano A, Russo M, Schenone A, Tagliapietra M, Tozza S, Vita G, Sabatelli M. hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers. Brain Sciences 2020 Oct 26;10(11):780.
31. Mercuri E, Muntoni F, Osorio AN, et al. Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. Journal of Comparative Effectiveness Research 2020;9:341-360.
32. Russo M, Gentile L, Toscano A, Aguennouz M, Vita G, Mazzeo A. Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects. Brain Sciences 2020 Dec 9;10(12):952.
33. Oreto L, Vita GL, Mandraffino G, Carerj S, Calabrò MP, Manganaro R, Cusmà-Piccione M, Todaro MC, Sframeli M, Cinquegrani M, Toscano A, Vita G, Messina S, Zito C. Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance. Acta Myologica 2020 Dec 1;39(4):191-199.
34. Adams D, Polydefkis M, González-Duarte A, et al. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Lancet Neurology 2021;20:49-59.
35. Vita GL, Sframeli M, Licata N, Bitto A, Romeo S, Frisone F, Ciranni A, Pallio G, Mannino F, Aguennouz M, Rodolico C, Squadrito F, Toscano A, Messina S, Vita G. A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy. Brain Sciences 2021 Jan 16;11(1):115.
36. Russo M, Bonanno C, Profazio C, La Foresta S, Faraone C, Lizio A, Vita GL, Sframeli M, Aricò I, Ruggeri P, Toscano A, Vita G, Lunetta C, Messina S. Which are the factors influencing NIV adaptation and tolerance in ALS patients? Neurological Sciences 2021;42:1023-1029.
37. Magliano L, Obici L, Sforzini C, Mazzeo A, Russo M, Cappelli F, Fenu S, Luigetti M, Tagliapietra M, Gemelli C, Leonardi L, Tozza S, Pradotto LG, Citarelli G, Mauro A, Manganelli F, Antonini G, Grandis M, Fabrizi GM, Sabatelli M, Pareyson D, Perfetto F, Merlini G, Vita G, Bisogni G, Calabrese D, Cardellini D, Casagrande S, Cavallaro T, Di Buduo E, Di Paolantonio A, Gentile L, Graceffa A, Massucco S, Milesi A, Morino S, Mussinelli R, Saveri P, Severi D. Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy. Orphanet Journal of Rare Diseases 2021 Apr 7;16(1):163.
38. Waddington-Cruz M, Ando Y, Amass L, Kiszko J, Chapman D, Sekijima Y, Badelita S, Barroso FA, Coelho T, Conceicao I, Darstein F, Dispenzieri A, Torrón RF, Pavia PG, Gess B, Costello JG, Gonzalez-Duarte Briseno MA, Gonzalez Moreno J, Gottlieb S, Jeon E-S, Kristen A, LoRusso S, Luigetti M, Marburger T, Munoz Beamud F, Nienhuis H, Oh J, Parman Y, Plante-Bordeneuve V, Polydefkis M, Quan D, Schmidt H, Tarne I, Van Cleemput J, Vita G. Feasibility of assessing progression of transthyretin amyloid polyneuropathy using nerve conduction studies: findings from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Journal of the Peripheral Nervous System 2021 Apr 12. doi: 10.1111/jns.12444. Epub ahead of print.
39. Bianchi L, Sframeli M, Vantaggiato L, Vita GL, Ciranni A, Polito F, Oteri R, Gitto E, Di Giuseppe F, Angelucci S, Versaci A, Messina S, Vita G, Bini L, Aguennouz M. Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients. International Journal of Molecular Sciences 2021; 22:4329.
40. Gentile L, Russo M, Luigetti M, Bisogni G, Di Paolantonio A, Romano A, Guglielmino V, Arimatea I, Sabatelli M, Toscano A, Vita G, Mazzeo A. Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy. Brain Sciences 2021; 11:515.
41. Russo M, Gentile L, Di Stefano V, Di Bella G, Minutoli F, Toscano A, Brighina F, Vita G, Mazzeo A. Use of Drugs for ATTRv Amyloidosis in the Real World: How Therapy Is Changing Survival in a Non-Endemic Area. Brain Sciences 2021 Apr 27;11(5):545.
42. Gentile L, Russo M, Rodolico C, Arimatea I, Vita G, Toscano A, Mazzeo A. Long-term treatment with subcutaneous immunoglobulin in multifocal motor neuropathy. Scientific Reports 2021 Apr 28;11(1):9216.