Detalhe da pesquisa
1.
Author Correction: Cytotoxic and regulatory roles of mucosal-associated invariant T cells in type 1 diabetes.
Nat Immunol
; 19(9): 1035, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29880894
2.
Cytotoxic and regulatory roles of mucosal-associated invariant T cells in type 1 diabetes.
Nat Immunol
; 18(12): 1321-1331, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28991267
3.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696726
4.
Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS).
Mov Disord
; 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38480525
5.
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
6.
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
; : e16292, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587143
7.
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
8.
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
9.
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
J Peripher Nerv Syst
; 28(3): 359-367, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37306961
10.
Motor neuron pathology in CANVAS due to RFC1 expansions.
Brain
; 145(6): 2121-2132, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927205
11.
CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell-targeted therapies.
Blood
; 136(21): 2428-2436, 2020 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959046
12.
Factors impacting performance on the 6-minute walk test by people with late-onset Pompe disease.
Muscle Nerve
; 65(6): 693-697, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35362614
13.
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
14.
Myeloneuropathy induced by recreational nitrous oxide use with variable exposure levels.
Eur J Neurol
; 29(8): 2173-2180, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460312
15.
Repetitive transcranial magnetic stimulation for patients with functional paralysis: a randomized controlled study.
Eur J Neurol
; 29(5): 1293-1302, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35098613
16.
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
17.
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
18.
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
Eur J Neurol
; 28(9): 2846-2854, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34060689
19.
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Eur J Neurol
; 28(9): 2913-2921, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34060176
20.
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Hum Mutat
; 41(1): 17-37, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448844