| Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial J Diaz-Manera, PS Kishnani, H Kushlaf, S Ladha, T Mozaffar, V Straub, ... The Lancet Neurology 20 (12), 1012-1026, 2021 | 88 | 2021 |
| Molecular characterization of congenital myasthenic syndromes in Spain D Natera-de Benito, A Töpf, JJ Vilchez, L González-Quereda, ... Neuromuscular Disorders 27 (12), 1087-1098, 2017 | 56 | 2017 |
| Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations D Natera-de Benito, M Bestué, JJ Vilchez, T Evangelista, A Töpf, ... Neuromuscular Disorders 26 (2), 153-159, 2016 | 40 | 2016 |
| Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain L Gonzalez-Quereda, MJ Rodriguez, J Diaz-Manera, J Alonso-Perez, ... Genes 11 (5), 539, 2020 | 36 | 2020 |
| KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors D Natera-de Benito, A Nascimento, A Abicht, C Ortez, C Jou, JS Müller, ... Journal of neurology 263, 517-523, 2016 | 36 | 2016 |
| COVID-19 in children with neuromuscular disorders D Natera-de Benito, S Aguilera-Albesa, L Costa-Comellas, ... Journal of neurology 268 (9), 3081-3085, 2021 | 34 | 2021 |
| Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy JF Vázquez‐Costa, M Povedano, AE Nascimiento‐Osorio, ... European Journal of Neurology 29 (12), 3666-3675, 2022 | 23 | 2022 |
| Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum R Urreizti, E Lopez-Martin, A Martinez-Monseny, M Pujadas, ... Orphanet Journal of Rare Diseases 15, 1-14, 2020 | 22 | 2020 |
| Nusinersen in adult patients with 5q spinal muscular atrophy: a multicenter observational cohorts' study JF Vázquez‐Costa, M Povedano, AE Nascimiento‐Osorio, ... European Journal of Neurology 29 (11), 3337-3346, 2022 | 20 | 2022 |
| Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up D Natera-de Benito, J Domínguez-Carral, N Muelas, A Nascimento, ... Neuromuscular Disorders 26 (11), 789-795, 2016 | 20 | 2016 |
| Congenital Harlequin syndrome as an isolated phenomenon: A case report and review of the literature AV Esteban, D Natera-de Benito, DM Sánchez, AR Sainz, MRR Díaz, ... european journal of paediatric neurology 20 (3), 426-430, 2016 | 19 | 2016 |
| Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization D Natera‐de Benito, J Muchart, D Itzep, C Ortez, L González‐Quereda, ... Epilepsia 61 (5), 971-983, 2020 | 18 | 2020 |
| Longitudinal study of three microRNAs in Duchenne muscular dystrophy and Becker muscular dystrophy S Trifunov, D Natera-de Benito, JM Exposito Escudero, C Ortez, J Medina, ... Frontiers in Neurology 11, 304, 2020 | 18 | 2020 |
| The phenotype and genotype of congenital myopathies based on a large pediatric cohort D Natera-de Benito, C Ortez, C Jou, C Jimenez-Mallebrera, A Codina, ... Pediatric Neurology 115, 50-65, 2021 | 16 | 2021 |
| Association of initial maximal motor ability with long-term functional outcome in patients with COL6-related dystrophies D Natera-de Benito, AR Foley, C Domínguez-González, C Ortez, M Jain, ... Neurology 96 (10), e1413-e1424, 2021 | 15 | 2021 |
| Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child L Carrera-García, D Natera-de Benito, C Lleixà, C Ortez, J Colomer, ... Neurology: Neuroimmunology & Neuroinflammation 6 (5), e602, 2019 | 15 | 2019 |
| Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II AL Frongia, D Natera-de Benito, C Ortez, M Alarcón, A Borrás, J Medina, ... Neuromuscular Disorders 29 (7), 517-524, 2019 | 15 | 2019 |
| CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings L Carrera‐García, D Natera‐de Benito, K Dieterich, MGG de la Banda, ... American Journal of Medical Genetics Part A 179 (6), 915-926, 2019 | 15 | 2019 |
| Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices J Dominguez-Carral, J Lopez-Pison, A Macaya, MB Campaña, ... European Journal of Medical Genetics 60 (2), 124-129, 2017 | 14 | 2017 |
| Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 97 weeks: a phase 3 randomized clinical trial PS Kishnani, J Diaz-Manera, A Toscano, PR Clemens, S Ladha, ... JAMA neurology 80 (6), 558-567, 2023 | 13 | 2023 |
