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.
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
3.
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
4.
Neurolymphomatosis: involvement of peripheral nervous system revealing hematologic malignancy, a report of nine cases.
J Peripher Nerv Syst
; 28(2): 252-261, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36861226
5.
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.
Neurogenetics
; 23(4): 241-255, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35788923
6.
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
7.
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
8.
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
9.
Clinical and genetic features of patients suffering from CMT4J.
J Neurol
; 271(3): 1355-1365, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950760
10.
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Orphanet J Rare Dis
; 19(1): 24, 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38268028
11.
Anti-Hu Antibodies in Patients With Neurologic Side Effects of Immune Checkpoint Inhibitors.
Neurol Neuroimmunol Neuroinflamm
; 10(1)2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446613
12.
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Neurol Genet
; 9(4): e200087, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470033
13.
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Neurology
; 101(9): e966-e977, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419682
14.
Neuromyotonia: a skin-deep problem.
BMJ Case Rep
; 15(4)2022 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35410943
15.
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
Acta Neuropathol Commun
; 9(1): 155, 2021 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34535181
16.
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
Orphanet J Rare Dis
; 16(1): 450, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702344
17.
Ganglionopathies Associated with MERRF Syndrome: An Original Report.
J Neuromuscul Dis
; 7(4): 419-423, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32538863
18.
Discontinuation of disease-modifying treatments for multiple sclerosis in patients aged over 50 with disease Inactivity.
J Neurol
; 267(12): 3518-3527, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32617659
19.
Generational changes in multiple sclerosis phenotype in North African immigrants in France: A population-based observational study.
PLoS One
; 13(3): e0194115, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29584762
20.
Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.
Parkinsonism Relat Disord
; 109: 105310, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36803911