Detalhe da pesquisa
1.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696726
2.
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Hum Mol Genet
; 31(5): 748-760, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559225
3.
Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
Eur J Neurol
; 31(2): e16138, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015438
4.
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
Eur J Neurol
; 31(7): e16292, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587143
5.
Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry.
Mol Genet Metab
; 139(3): 107611, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37285781
6.
Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy.
Eur J Neurol
; 30(3): 745-748, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403110
7.
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
Eur J Neurol
; 30(8): 2506-2517, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166430
8.
Therapeutic thoroughfares for adults living with Pompe disease.
Curr Opin Neurol
; 35(5): 645-650, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35942661
9.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
10.
Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy.
Muscle Nerve
; 65(1): 89-95, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618930
11.
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial.
J Inherit Metab Dis
; 45(3): 517-528, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35066899
12.
Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic.
Eur J Neurol
; 29(4): 1181-1186, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927321
13.
Macroglossia: A potentially severe complication of late-onset Pompe disease.
Eur J Neurol
; 29(7): 2121-2128, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35302691
14.
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Eur J Neurol
; 29(8): 2398-2411, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460302
15.
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
16.
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Int J Mol Sci
; 23(15)2022 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955641
17.
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Ann Neurol
; 88(2): 274-282, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386344
18.
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
J Inherit Metab Dis
; 44(3): 521-533, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368379
19.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Eur J Neurol
; 28(6): 2092-2102, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715265
20.
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Circulation
; 140(4): 293-302, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155932