| Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy J Sarparanta, PH Jonson, C Golzio, S Sandell, H Luque, M Screen, ... Nature genetics 44 (4), 450-455, 2012 | 279 | 2012 |
| Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression M Pescatori, A Broccolini, C Minetti, E Bertini, C Bruno, A D'amico, ... The FASEB Journal 21 (4), 1210-1226, 2007 | 246 | 2007 |
| Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials K Anthony, S Cirak, S Torelli, G Tasca, L Feng, V Arechavala-Gomeza, ... Brain 134 (12), 3547-3559, 2011 | 162 | 2011 |
| CD8+ T Cells in Facioscapulohumeral Muscular Dystrophy Patients with Inflammatory Features at Muscle MRI G Frisullo, R Frusciante, V Nociti, G Tasca, R Renna, R Iorio, AK Patanella, ... Journal of clinical immunology 31, 155-166, 2011 | 141 | 2011 |
| Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5 S Penttilä, J Palmio, T Suominen, O Raheem, A Evilä, N Muelas Gomez, ... Neurology 78 (12), 897-903, 2012 | 138 | 2012 |
| Different impact of sex on baseline characteristics and major periprocedural outcomes of transcatheter and surgical aortic valve interventions: results of the multicenter … F Onorati, P D’Errigo, M Barbanti, S Rosato, RD Covello, A Maraschini, ... The Journal of thoracic and cardiovascular surgery 147 (5), 1529-1539, 2014 | 120 | 2014 |
| Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles G Tasca, M Pescatori, M Monforte, M Mirabella, E Iannaccone, ... PloS one 7 (6), e38779, 2012 | 119 | 2012 |
| Magnetic resonance imaging pattern recognition in sporadic inclusion‐body myositis G Tasca, M Monforte, C De Fino, RA Kley, E Ricci, M Mirabella Muscle & nerve 52 (6), 956-962, 2015 | 116 | 2015 |
| The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients M Savarese, G Di Fruscio, A Torella, C Fiorillo, F Magri, M Fanin, ... Neurology 87 (1), 71-76, 2016 | 109 | 2016 |
| 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 |
| POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking RFR Schindler, C Scotton, J Zhang, C Passarelli, B Ortiz-Bonnin, ... The Journal of clinical investigation 126 (1), 239-253, 2016 | 96 | 2016 |
| POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking RFR Schindler, C Scotton, J Zhang, C Passarelli, B Ortiz-Bonnin, ... The Journal of clinical investigation 126 (1), 239-253, 2016 | 96 | 2016 |
| Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials G Tasca, M Monforte, P Ottaviani, M Pelliccioni, R Frusciante, F Laschena, ... Annals of neurology 79 (5), 854-864, 2016 | 94 | 2016 |
| Prevalence of congenital muscular dystrophy in Italy: a population study A Graziano, F Bianco, A D'Amico, I Moroni, S Messina, C Bruno, ... Neurology 84 (9), 904-911, 2015 | 94 | 2015 |
| Muscle MRI in Becker muscular dystrophy G Tasca, E Iannaccone, M Monforte, M Masciullo, F Bianco, F Laschena, ... Neuromuscular Disorders 22, S100-S106, 2012 | 94 | 2012 |
| MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients C Fiorillo, G Astrea, M Savarese, D Cassandrini, G Brisca, F Trucco, ... Orphanet journal of rare diseases 11, 1-14, 2016 | 89 | 2016 |
| Hereditary myopathy with early respiratory failure: occurrence in various populations J Palmio, A Evilä, F Chapon, G Tasca, F Xiang, B Brådvik, B Eymard, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (3), 345-353, 2014 | 88 | 2014 |
| Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping K Anthony, V Arechavala-Gomeza, V Ricotti, S Torelli, L Feng, N Janghra, ... JAMA neurology 71 (1), 32-40, 2014 | 88 | 2014 |
| Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 J Böhm, F Chevessier, C Koch, GA Peche, M Mora, L Morandi, B Pasanisi, ... Journal of medical genetics 51 (12), 824-833, 2014 | 87 | 2014 |
| Upper girdle imaging in facioscapulohumeral muscular dystrophy G Tasca, M Monforte, E Iannaccone, F Laschena, P Ottaviani, E Leoncini, ... PloS one 9 (6), e100292, 2014 | 86 | 2014 |
