Detalhe da pesquisa
1.
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Lancet
; 390(10101): 1489-1498, 2017 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28728956
2.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
J Inherit Metab Dis
; 39(2): 243-52, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26475597
3.
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.
J Neurol
; 270(8): 3896-3913, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37115359
4.
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
J Neuromuscul Dis
; 10(2): 173-184, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373291
5.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Nat Commun
; 12(1): 2558, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963192
6.
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.
J Comp Eff Res
; 9(5): 341-360, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997646
7.
Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry.
J Comp Eff Res
; 8(14): 1187-1200, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31414621
8.
Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.
J Neurol
; 270(9): 4583, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460854