Daniel Natera‐de Benito

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf et al. · The Lancet Neurology · 2021 · 169 citations · Full text

Late-onset Pompe Disease, Autoimmune Disease, Clinical Infectious Disease +3

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

Molecular characterization of congenital myasthenic syndromes in Spain

Daniel Natera‐de Benito, Ana Töpf, Juan J. Vílchez et al. · Neuromuscular Disorders · 2017 · 77 citations

Developmental Anomaly, Mendelian Disorder, Congenital Myasthenic Syndromes +6

Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study

Juan F. Vázquez‐Costa, Mónica Povedano, Andrés E. Nascimiento‐Osorio et al. · European Journal of Neurology · 2022 · 63 citations · Full text

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

Lidia González‐Quereda, Maria José Rodríguez, Jordi Díaz‐Manera et al. · Genes · 2020 · 48 citations · Full text