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Daniel Natera-de Benito
Daniel Natera-de Benito
Hospital Sant Joan de Déu, Barcelona
Verified email at sjd.es
Title
Cited by
Cited by
Year
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
822021
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
562017
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
402016
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
362020
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
362016
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
342021
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
222020
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
212022
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
202016
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
192016
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
182020
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
182020
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
172022
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
162021
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
152019
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
152019
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
152019
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
142021
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
142017
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
122023
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