Detalhe da pesquisa
1.
PIEZO2 in somatosensory neurons controls gastrointestinal transit.
Cell
; 186(16): 3386-3399.e15, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541196
2.
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Hum Mutat
; 36(12): 1159-63, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26310427
3.
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
EBioMedicine
; 99: 104894, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38086156
4.
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Lancet Neurol
; 22(12): 1125-1139, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977713
5.
The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.
Semin Pediatr Neurol
; 29: 44-54, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31060725