| Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene V Nigro, ES Moreira, G Piluso, M Vainzof, A Belsito, L Politano, AA Puca, ... Nature genetics 14 (2), 195-198, 1996 | 553 | 1996 |
| Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients L Passamano, A Taglia, A Palladino, E Viggiano, P D'ambrosio, ... Acta Myologica 31 (2), 121, 2012 | 480 | 2012 |
| Identification of the Syrian hamster cardiomyopathy gene V Nigro, Y Okazaki, A Belsito, G Piluso, Y Matsuda, L Politano, G Nigro, ... Human molecular genetics 6 (4), 601-607, 1997 | 320 | 1997 |
| Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. L Politano, G Nigro, V Nigro, G Piluso, S Papparella, O Paciello, LI Comi Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the …, 2003 | 260 | 2003 |
| Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein V Nigro, G Piluso, A Belsito, L Politano, AA Puca, S Papparella, E Rossi, ... Human molecular genetics 5 (8), 1179-1186, 1996 | 232 | 1996 |
| γ1-and γ2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells G Piluso, M Mirabella, E Ricci, A Belsito, C Abbondanza, S Servidei, ... Journal of Biological Chemistry 275 (21), 15851-15860, 2000 | 166 | 2000 |
| Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell C Abbondanza, V Rossi, A Roscigno, L Gallo, A Belsito, G Piluso, ... The Journal of cell biology 141 (6), 1301-1310, 1998 | 134 | 1998 |
| Molecular diagnosis in LGMD2A: mutation analysis or protein testing? M Fanin, L Fulizio, AC Nascimbeni, M Spinazzi, G Piluso, VM Ventriglia, ... Human mutation 24 (1), 52-62, 2004 | 133 | 2004 |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 128 | 2020 |
| Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes G Piluso, L Politano, S Aurino, M Fanin, E Ricci, VM Ventriglia, A Belsito, ... Journal of Medical Genetics 42 (9), 686-693, 2005 | 125 | 2005 |
| Mutations that impair interaction properties of TRIM32 associated with limb‐girdle muscular dystrophy 2H V Saccone, M Palmieri, L Passamano, G Piluso, G Meroni, L Politano, ... Human mutation 29 (2), 240-247, 2008 | 119 | 2008 |
| 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 | 116 | 2016 |
| Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches V Nigro, S Aurino, G Piluso Current opinion in neurology 24 (5), 429-436, 2011 | 109 | 2011 |
| Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations M Cacciottolo, G Numitone, S Aurino, IR Caserta, M Fanin, L Politano, ... European journal of human genetics 19 (9), 974-980, 2011 | 107 | 2011 |
| A missense mutation in CASK causes FG syndrome in an Italian family G Piluso, F D'Amico, V Saccone, E Bismuto, IL Rotundo, M Di Domenico, ... The American Journal of Human Genetics 84 (2), 162-177, 2009 | 103 | 2009 |
| Lack of replication of genetic associations with human longevity V Novelli, C Viviani Anselmi, R Roncarati, G Guffanti, A Malovini, G Piluso, ... Biogerontology 9, 85-92, 2008 | 94 | 2008 |
| Molecular and muscle pathology in a series of caveolinopathy patients L Fulizio, A Chiara Nascimbeni, M Fanin, G Piluso, L Politano, V Nigro, ... Human mutation 25 (1), 82-89, 2005 | 93 | 2005 |
| The retinoblastoma-interacting zinc-finger protein RIZ is a downstream effector of estrogen action C Abbondanza, N Medici, V Nigro, V Rossi, L Gallo, G Piluso, A Belsito, ... Proceedings of the National Academy of Sciences 97 (7), 3130-3135, 2000 | 93 | 2000 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1325-1331, 2021 | 86 | 2021 |
| Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F A Torella, M Fanin, M Mutarelli, E Peterle, F Del Vecchio Blanco, R Rispoli, ... PloS one 8 (5), e63536, 2013 | 83 | 2013 |
