Detalhe da pesquisa
1.
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.
Int J Mol Sci
; 25(8)2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673950
2.
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Eur J Neurol
; 30(9): 2828-2837, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37235686
3.
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv).
BMC Pediatr
; 23(1): 563, 2023 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968589
4.
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Clin Genet
; 102(5): 379-390, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882622
5.
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Eur Heart J
; 42(20): 1976-1984, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748842
6.
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Arch Pediatr
; 31(2): 117-123, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135619
7.
Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis: The French Experience.
Neurology
; 98(23): e2368-e2376, 2022 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314497
8.
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.
Eur J Paediatr Neurol
; 31: 78-87, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33667896
9.
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Genes (Basel)
; 12(8)2021 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440373
10.
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
Neuromuscul Disord
; 30(11): 877-887, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33127292
11.
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Orphanet J Rare Dis
; 15(1): 148, 2020 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532349
12.
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Neurology
; 92(8): e852-e865, 2019 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30659139
13.
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
J Mol Diagn
; 20(4): 533-549, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29792937