A. Nascimento Osorio

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli et al. · The Lancet · 2017 · 446 citations · Full text

Rare Diseases, Urology, Clinical Trials +5

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 effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study

Eugenio Mercuri, Francesco Muntoni, A. Nascimento Osorio et al. · Journal of Comparative Effectiveness Research · 2020 · 124 citations · Full text

Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients

Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen et al. · Journal of Inherited Metabolic Disease · 2015 · 87 citations

Clinical Variability in Spinal Muscular Atrophy Type <scp>III</scp>

Giorgia Coratti, Sonia Messina, Simona Lucibello et al. · Annals of Neurology · 2020 · 81 citations