Detalhe da pesquisa
1.
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Cell
; 137(2): 235-46, 2009 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-19379691
2.
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
J Med Genet
; 60(10): 1021-1025, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849228
3.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
4.
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
J Pediatr
; 254: 39-47.e4, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265570
5.
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Mov Disord
; 38(11): 2103-2115, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37605305
6.
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
7.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737400
8.
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
J Pediatr
; 242: 192-200.e3, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788681
9.
Similar patterns of [18F]-FDG brain PET hypometabolism in paediatric and adult patients with long COVID: a paediatric case series.
Eur J Nucl Med Mol Imaging
; 49(3): 913-920, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34414470
10.
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
J Inherit Metab Dis
; 45(5): 937-951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35618652
11.
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
12.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Genet Med
; 23(9): 1604-1615, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040193
13.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244665
14.
Motor unit number index: A potential electrophysiological biomarker for pediatric spinal muscular atrophy.
Muscle Nerve
; 64(4): 445-453, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255873
15.
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
J Inherit Metab Dis
; 44(2): 415-425, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929747
16.
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
J Pediatr
; 220: 184-192.e6, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32145964
17.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
18.
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
Am J Med Genet A
; 176(1): 151-155, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130637
19.
Clinical features and evolution of juvenile myasthenia gravis in a French cohort.
Muscle Nerve
; 57(4): 603-609, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28877546
20.
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis
; 41(4): 741-742, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29234995