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.
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
4.
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
5.
Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal.
Eur J Neurol
; 30(1): 266-282, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094738
6.
Hyaluronidase-facilitated subcutaneous immunoglobulin 10% as maintenance therapy for chronic inflammatory demyelinating polyradiculoneuropathy: The ADVANCE-CIDP 1 randomized controlled trial.
J Peripher Nerv Syst
; 28(3): 436-449, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37314318
7.
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
8.
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.
Int J Mol Sci
; 23(5)2022 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35269658
9.
Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy.
Hum Mol Genet
; 28(8): 1244-1259, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30462217
10.
Ultra-high-frequency ultrasound imaging of sural nerve: A comparative study with nerve biopsy in progressive neuropathies.
Muscle Nerve
; 63(1): 46-51, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939798
11.
Motor axonal neuropathy associated with GNE mutations.
Muscle Nerve
; 63(3): 396-401, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094863
12.
The facioscapulohumeral muscular dystrophy Rasch-built overall disability scale (FSHD-RODS).
Eur J Neurol
; 28(7): 2339-2348, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33838063
13.
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
14.
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Hum Mutat
; 41(8): 1394-1406, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32419253
15.
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
Hum Mol Genet
; 27(20): 3488-3497, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30281091
16.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070812
17.
Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6.
J Neurol Neurosurg Psychiatry
; 91(8): 876-878, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576615
18.
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
19.
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
J Med Genet
; 56(9): 590-601, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31010831
20.
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
J Med Genet
; 56(12): 828-837, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31676591