| Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years C Angelini, C Semplicini, S Ravaglia, B Bembi, S Servidei, E Pegoraro, ... Journal of neurology 259, 952-958, 2012 | 159 | 2012 |
| The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis F Magri, V Nigro, C Angelini, T Mongini, M Mora, I Moroni, A Toscano, ... Muscle & nerve 55 (1), 55-68, 2017 | 106 | 2017 |
| The Clinical Outcome Study for dysferlinopathy: An international multicenter study E Harris, CL Bladen, A Mayhew, M James, K Bettinson, U Moore, ... Neurology: Genetics 2 (4), e89, 2016 | 98 | 2016 |
| Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials J Diaz-Manera, R Fernandez-Torron, J LLauger, MK James, A Mayhew, ... Journal of Neurology, Neurosurgery & Psychiatry 89 (10), 1071-1081, 2018 | 96 | 2018 |
| Enzyme replacement therapy for Pompe disease C Angelini, C Semplicini Current neurology and neuroscience reports 12, 70-75, 2012 | 84 | 2012 |
| Genetic modifiers of Duchenne muscular dystrophy and dilated cardiomyopathy A Barp, L Bello, L Politano, P Melacini, C Calore, A Polo, S Vianello, ... PloS one 10 (10), e0141240, 2015 | 78 | 2015 |
| Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients G Querin, C Bertolin, E Da Re, M Volpe, G Zara, E Pegoraro, N Caretta, ... Journal of Neurology, Neurosurgery & Psychiatry 87 (8), 810-816, 2016 | 75 | 2016 |
| MRI in sarcoglycanopathies: a large international cohort study G Tasca, M Monforte, J Díaz-Manera, G Brisca, C Semplicini, A D’Amico, ... Journal of Neurology, Neurosurgery & Psychiatry 89 (1), 72-77, 2018 | 72 | 2018 |
| New motor outcome function measures in evaluation of late‐onset Pompe disease before and after enzyme replacement therapy C Angelini, C Semplicini, S Ravaglia, M Moggio, GP Comi, O Musumeci, ... Muscle & nerve 45 (6), 831-834, 2012 | 66 | 2012 |
| Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E C Semplicini, J Vissing, JR Dahlqvist, T Stojkovic, L Bello, N Witting, ... Neurology 84 (17), 1772-1781, 2015 | 60 | 2015 |
| Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study L Magliano, MG D'ANGELO, G Vita, M Pane, A D'AMICO, U Balottin, ... Acta Myologica 33 (3), 136, 2014 | 59 | 2014 |
| Burden, professional support, and social network in families of children and young adults with muscular dystrophies L Magliano, M Patalano, A Sagliocchi, M Scutifero, A Zaccaro, ... Muscle & nerve 52 (1), 13-21, 2015 | 57 | 2015 |
| European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) A Barp, P Laforet, L Bello, G Tasca, J Vissing, M Monforte, E Ricci, ... Journal of neurology 267, 45-56, 2020 | 51 | 2020 |
| “I have got something positive out of this situation”: psychological benefits of caregiving in relatives of young people with muscular dystrophy L Magliano, M Patalano, A Sagliocchi, M Scutifero, A Zaccaro, ... Journal of Neurology 261, 188-195, 2014 | 51 | 2014 |
| New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy J Alonso-Perez, L González-Quereda, L Bello, M Guglieri, V Straub, ... Brain 143 (9), 2696-2708, 2020 | 50 | 2020 |
| Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies L Bello, P Campadello, A Barp, M Fanin, C Semplicini, G Sorarù, ... Scientific reports 6 (1), 32439, 2016 | 49 | 2016 |
| Muscle MRI and functional outcome measures in Becker muscular dystrophy A Barp, L Bello, L Caumo, P Campadello, C Semplicini, A Lazzarotto, ... Scientific Reports 7 (1), 16060, 2017 | 45 | 2017 |
| Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy G Peretto, C Di Resta, J Perversi, C Forleo, L Maggi, L Politano, A Barison, ... Annals of Internal Medicine 171 (7), 458-463, 2019 | 39 | 2019 |
| Progress in enzyme replacement therapy in glycogen storage disease type II C Angelini, C Semplicini, P Tonin, M Filosto, E Pegoraro, G Sorarù, ... Therapeutic Advances in Neurological Disorders 2 (3), 143-153, 2009 | 37 | 2009 |
| Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study C Semplicini, P Letard, M De Antonio, N Taouagh, B Perniconi, F Bouhour, ... Journal of Inherited Metabolic Disease 41, 937-946, 2018 | 36 | 2018 |
