Revised upper limb module for spinal muscular atrophy: development of a new module ES Mazzone, A Mayhew, J Montes, D Ramsey, L Fanelli, SD Young, ... Muscle & nerve 55 (6), 869-874, 2017 | 280 | 2017 |
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 | 223 | 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 | 183 | 2022 |
Developmental milestones in type I spinal muscular atrophy R De Sanctis, G Coratti, A Pasternak, J Montes, M Pane, ES Mazzone, ... Neuromuscular Disorders 26 (11), 754-759, 2016 | 161 | 2016 |
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy MC Pera, G Coratti, N Forcina, ES Mazzone, M Scoto, J Montes, ... BMC neurology 17, 1-10, 2017 | 150 | 2017 |
Nusinersen in type 1 spinal muscular atrophy: twelve‐month real‐world data M Pane, G Coratti, VA Sansone, S Messina, C Bruno, M Catteruccia, ... Annals of neurology 86 (3), 443-451, 2019 | 124 | 2019 |
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis G Coratti, C Cutrona, MC Pera, F Bovis, M Ponzano, F Chieppa, ... Orphanet Journal of Rare Diseases 16, 1-12, 2021 | 102 | 2021 |
Ambulatory function in spinal muscular atrophy: age-related patterns of progression J Montes, MP McDermott, E Mirek, ES Mazzone, M Main, AM Glanzman, ... PLoS One 13 (6), e0199657, 2018 | 96 | 2018 |
Revised upper limb module for spinal muscular atrophy: 12 month changes MC Pera, G Coratti, ES Mazzone, J Montes, M Scoto, R De Sanctis, ... Muscle & Nerve 59 (4), 426-430, 2019 | 95 | 2019 |
Nusinersen in type 1 SMA infants, children and young adults: preliminary results on motor function M Pane, C Palermo, S Messina, VA Sansone, C Bruno, M Catteruccia, ... Neuromuscular Disorders 28 (7), 582-585, 2018 | 88 | 2018 |
Respiratory needs in patients with type 1 spinal muscular atrophy treated with nusinersen VA Sansone, A Pirola, E Albamonte, M Pane, A Lizio, A D'Amico, ... The Journal of pediatrics 219, 223-228. e4, 2020 | 86 | 2020 |
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? MC Pera, G Coratti, B Berti, A D’Amico, M Sframeli, E Albamonte, ... PLoS One 15 (3), e0230677, 2020 | 77 | 2020 |
Revised North Star Ambulatory Assessment for young boys with Duchenne muscular dystrophy E Mercuri, G Coratti, S Messina, V Ricotti, G Baranello, A D’Amico, ... PLoS One 11 (8), e0160195, 2016 | 77 | 2016 |
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial R Masson, M Mazurkiewicz-Bełdzińska, K Rose, L Servais, H Xiong, ... The Lancet Neurology 21 (12), 1110-1119, 2022 | 74 | 2022 |
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 | 71 | 2019 |
Longitudinal natural history of type I spinal muscular atrophy: a critical review E Mercuri, S Lucibello, M Perulli, G Coratti, R De Sanctis, MC Pera, ... Orphanet journal of rare diseases 15, 1-7, 2020 | 69 | 2020 |
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy R De Sanctis, M Pane, G Coratti, C Palermo, D Leone, MC Pera, E Abiusi, ... Neuromuscular Disorders 28 (1), 24-28, 2018 | 67 | 2018 |
Respiratory trajectories in type 2 and 3 spinal muscular atrophy in the iSMAC cohort study F Trucco, D Ridout, M Scoto, G Coratti, ML Main, R Muni Lofra, ... Neurology 96 (4), e587-e599, 2021 | 58 | 2021 |
Clinical variability in spinal muscular atrophy type III G Coratti, S Messina, S Lucibello, MC Pera, J Montes, A Pasternak, ... Annals of neurology 88 (6), 1109-1117, 2020 | 57 | 2020 |
Performance of Upper Limb module for Duchenne muscular dystrophy AG Mayhew, G Coratti, ES Mazzone, K Klingels, M James, M Pane, ... Developmental medicine & child neurology 62 (5), 633-639, 2020 | 57 | 2020 |