Jorge Alonso‐Pérez

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

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Benedikt Schoser, Mark Roberts, Barry J. Byrne et al. · The Lancet Neurology · 2021 · 124 citations

Clinical Trials, Cipaglucosidase Alfa, Pharmacotherapy +2

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 105 citations · Full text

Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies

José Verdú-Díaz, Jorge Alonso‐Pérez, Claudia Nuñez‐Peralta et al. · Neurology · 2020 · 75 citations

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Jorge Alonso‐Pérez, Lidia González‐Quereda, Luca Bello et al. · Brain · 2020 · 74 citations · Full text

Genetic Epidemiology, Human Polymorphism, Pathology +29