| Dystrophin and mutations: one gene, several proteins, multiple phenotypes F Muntoni, S Torelli, A Ferlini The Lancet Neurology 2 (12), 731-740, 2003 | 1308 | 2003 |
| Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types C Rapezzi, G Merlini, CC Quarta, L Riva, S Longhi, O Leone, F Salvi, ... Circulation 120 (13), 1203-1212, 2009 | 850 | 2009 |
| Role of 99mTc-DPD Scintigraphy in Diagnosis and Prognosis of Hereditary Transthyretin-Related Cardiac Amyloidosis C Rapezzi, CC Quarta, PL Guidalotti, C Pettinato, S Fanti, O Leone, ... JACC: Cardiovascular Imaging 4 (6), 659-670, 2011 | 352 | 2011 |
| Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ... Journal of medical genetics 44 (12), 750-762, 2007 | 342 | 2007 |
| Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective C Rapezzi, CC Quarta, L Obici, F Perfetto, S Longhi, F Salvi, E Biagini, ... European heart journal 34 (7), 520-528, 2013 | 339 | 2013 |
| Duchenne muscular dystrophy: from diagnosis to therapy MS Falzarano, C Scotton, C Passarelli, A Ferlini Molecules 20 (10), 18168-18184, 2015 | 320 | 2015 |
| Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies L Merlini, A Angelin, T Tiepolo, P Braghetta, P Sabatelli, A Zamparelli, ... Proceedings of the National Academy of Sciences 105 (13), 5225-5229, 2008 | 251 | 2008 |
| Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy C Rapezzi, CC Quarta, PL Guidalotti, S Longhi, C Pettinato, O Leone, ... European journal of nuclear medicine and molecular imaging 38, 470-478, 2011 | 236 | 2011 |
| Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins A Angelin, T Tiepolo, P Sabatelli, P Grumati, N Bergamin, C Golfieri, ... Proceedings of the National Academy of Sciences 104 (3), 991-996, 2007 | 236 | 2007 |
| Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human M Neri, S Torelli, S Brown, I Ugo, P Sabatelli, L Merlini, P Spitali, ... Neuromuscular Disorders 17 (11-12), 913-918, 2007 | 202 | 2007 |
| A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield A Ankala, C da Silva, F Gualandi, A Ferlini, LJH Bean, C Collins, ... Annals of neurology 77 (2), 206-214, 2015 | 174 | 2015 |
| Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation M Pane, ME Lombardo, P Alfieri, A D'Amico, F Bianco, G Vasco, G Piccini, ... The Journal of pediatrics 161 (4), 705-709. e1, 2012 | 172 | 2012 |
| Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14‐year follow‐up L Merlini, M Gennari, E Malaspina, I Cecconi, A Armaroli, S Gnudi, ... Muscle & nerve 45 (6), 796-802, 2012 | 165 | 2012 |
| Preclinical PK and PD studies on 2′-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model H Heemskerk, C De Winter, P Van Kuik, N Heuvelmans, P Sabatelli, ... Molecular Therapy 18 (6), 1210-1217, 2010 | 165 | 2010 |
| Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy IT Zaharieva, M Calissano, M Scoto, M Preston, S Cirak, L Feng, J Collins, ... PloS one 8 (11), e80263, 2013 | 163 | 2013 |
| 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 |
| Clinical outcomes in Duchenne muscular dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database Z Koeks, CL Bladen, D Salgado, E Van Zwet, O Pogoryelova, ... Journal of neuromuscular diseases 4 (4), 293-306, 2017 | 161 | 2017 |
| Atrial fibrillation in amyloidotic cardiomyopathy: prevalence, incidence, risk factors and prognostic role S Longhi, CC Quarta, A Milandri, M Lorenzini, C Gagliardi, L Manuzzi, ... Amyloid 22 (3), 147-155, 2015 | 152 | 2015 |
| Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies A Milandri, A Farioli, C Gagliardi, S Longhi, F Salvi, S Curti, S Foffi, ... European journal of heart failure 22 (3), 507-515, 2020 | 141 | 2020 |
| Autosomal recessive myosclerosis myopathy is a collagen VI disorder L Merlini, E Martoni, P Grumati, P Sabatelli, S Squarzoni, A Urciuolo, ... Neurology 71 (16), 1245-1253, 2008 | 141 | 2008 |
