Risdiplam in type 1 spinal muscular atrophy G Baranello, BT Darras, JW Day, N Deconinck, A Klein, R Masson, ... New England Journal of Medicine 384 (10), 915-923, 2021 | 304 | 2021 |
Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls BT Darras, R Masson, M Mazurkiewicz-Bełdzińska, K Rose, H Xiong, ... New England Journal of Medicine 385 (5), 427-435, 2021 | 187 | 2021 |
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial E Mercuri, F Muntoni, G Baranello, R Masson, O Boespflug-Tanguy, ... The Lancet Neurology 20 (10), 832-841, 2021 | 153 | 2021 |
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled … E Mercuri, N Deconinck, ES Mazzone, A Nascimento, M Oskoui, K Saito, ... The Lancet Neurology 21 (1), 42-52, 2022 | 140 | 2022 |
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes M Pane, ES Mazzone, S Sivo, MP Sormani, S Messina, A D′ Amico, ... PLoS One 9 (10), e108205, 2014 | 133 | 2014 |
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy M Pane, ES Mazzone, L Fanelli, R De Sanctis, F Bianco, S Sivo, ... Neuromuscular Disorders 24 (3), 201-206, 2014 | 114 | 2014 |
Sleep disorders in children with cerebral palsy: neurodevelopmental and behavioral correlates DM Romeo, C Brogna, M Quintiliani, G Baranello, E Pagliano, T Casalino, ... Sleep medicine 15 (2), 213-218, 2014 | 106 | 2014 |
Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations E Leoncini, G Baranello, IM Orioli, G Annerén, M Bakker, F Bianchi, ... Birth Defects Research Part A: Clinical and Molecular Teratology 82 (8), 585-591, 2008 | 103 | 2008 |
Early neurodevelopmental assessment in Duchenne muscular dystrophy M Pane, R Scalise, A Berardinelli, G D’Angelo, V Ricotti, P Alfieri, I Moroni, ... Neuromuscular Disorders 23 (6), 451-455, 2013 | 100 | 2013 |
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy MO Deguise, G Baranello, C Mastella, A Beauvais, J Michaud, A Leone, ... Annals of clinical and translational neurology 6 (8), 1519-1532, 2019 | 98 | 2019 |
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes M Pane, ES Mazzone, MP Sormani, S Messina, GL Vita, L Fanelli, ... PloS one 9 (1), e83400, 2014 | 97 | 2014 |
ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy J Böhm, M Bulla, JE Urquhart, E Malfatti, SG Williams, J O'Sullivan, ... Human mutation 38 (4), 426-438, 2017 | 89 | 2017 |
Thalamic atrophy in infants with PVL and cerebral visual impairment D Ricci, S Anker, F Cowan, M Pane, F Gallini, R Luciano, V Donvito, ... Early human development 82 (9), 591-595, 2006 | 88 | 2006 |
Effect of different corticosteroid dosing regimens on clinical outcomes in boys with Duchenne muscular dystrophy: a randomized clinical trial M Guglieri, K Bushby, MP McDermott, KA Hart, R Tawil, WB Martens, ... Jama 327 (15), 1456-1468, 2022 | 72 | 2022 |
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy M Guglieri, K Bushby, MP McDermott, KA Hart, R Tawil, WB Martens, ... Contemporary clinical trials 58, 34-39, 2017 | 72 | 2017 |
Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: critical issues and areas for improvements A D'Amico, M Catteruccia, G Baranello, L Politano, A Govoni, SC Previtali, ... Neuromuscular Disorders 27 (5), 447-451, 2017 | 70 | 2017 |
Visual Function Classification System for children with cerebral palsy: development and validation G Baranello, S Signorini, F Tinelli, A Guzzetta, E Pagliano, A Rossi, ... Developmental Medicine & Child Neurology 62 (1), 104-110, 2020 | 69 | 2020 |
Bone and spinal muscular atrophy S Vai, ML Bianchi, I Moroni, C Mastella, F Broggi, L Morandi, MT Arnoldi, ... Bone 79, 116-120, 2015 | 63 | 2015 |
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 C Brogna, G Coratti, M Pane, V Ricotti, S Messina, A D’Amico, C Bruno, ... PLoS One 14 (6), e0218683, 2019 | 62 | 2019 |
Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions R Battini, D Chieffo, S Bulgheroni, G Piccini, C Pecini, S Lucibello, S Lenzi, ... Neuromuscular Disorders 28 (2), 122-128, 2018 | 62 | 2018 |