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.
Inaugural dropped head syndrome and camptocormia in inflammatory myopathies: a retrospective study.
Rheumatology (Oxford)
; 63(2): 506-515, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462538
3.
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
4.
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Brain
; 146(8): 3470-3483, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454683
5.
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
6.
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
7.
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Eur J Neurol
; 30(10): 3265-3276, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37335503
8.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Eur J Neurol
; 30(7): 2001-2011, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943151
9.
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
10.
Usefulness and prognostic value of diagnostic tests in patients with possible chronic inflammatory demyelinating polyradiculoneuropathy.
Muscle Nerve
; 66(3): 304-311, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661382
11.
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
12.
Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study.
Eur J Neurol
; 29(12): 3547-3555, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35969369
13.
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
14.
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.
J Inherit Metab Dis
; 43(6): 1219-1231, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515844
15.
Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
Int J Mol Sci
; 21(18)2020 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948071
16.
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
Int J Mol Sci
; 21(6)2020 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32210100
17.
Comment on: Inaugural dropped head syndrome and camptocormia in inflammatory myopathies: a retrospective study: Reply.
Rheumatology (Oxford)
; 63(4): e144-e145, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647649
18.
Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study.
Eur Neurol
; 82(4-6): 106-112, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32018264
19.
Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria.
Muscle Nerve
; 57(2): 217-221, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407266
20.
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
J Inherit Metab Dis
; 41(6): 937-946, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30155607