Daniel Natera-De Benito

Daniel Natera-De Benito

Hospital Sant Joan de Deu - / Spain
Others
AD Scientific Index ID: 5012793
Sant Joan de Deu Hospital
person_outline Daniel Natera-De Benito's MOST POPULAR ARTICLES
1-) 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 542021
2-) 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 482017
3-) Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataL Matalonga, C Hernández-Ferrer, D Piscia, R Schüle, M Synofzik, A Töpf, ...European Journal of Human Genetics 29 (9), 1337-1347, 2021552021
4-) Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in SpainL Gonzalez-Quereda, MJ Rodriguez, J Diaz-Manera, J Alonso-Perez, ...Genes 11 (5), 539, 2020462020
5-) Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutationsD Natera-de Benito, M Bestué, JJ Vilchez, T Evangelista, A Töpf, ...Neuromuscular Disorders 26 (2), 153-159, 2016422016