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.
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Hum Genomics
; 17(1): 7, 2023 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765386
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.
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
5.
Natural History of Adult Patients with GM2 Gangliosidosis.
Ann Neurol
; 87(4): 609-617, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31995250
6.
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
7.
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
8.
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
Muscle Nerve
; 61(4): 491-495, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944327
9.
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.
Muscle Nerve
; 60(1): 72-79, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30972778
10.
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
Neurogenetics
; 19(2): 67-76, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396836
11.
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.
J Inherit Metab Dis
; 41(5): 799-807, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29560583
12.
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Eur J Hum Genet
; 32(1): 37-43, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337091
13.
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
14.
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
J Neuromuscul Dis
; 10(1): 125-133, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373293
15.
New mutation in the ß1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Sci Rep
; 13(1): 14054, 2023 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37640745
16.
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
17.
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Neuromuscul Disord
; 32(11-12): 870-878, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36522822
18.
Cardiac Outcomes in Adults With Mitochondrial Diseases.
J Am Coll Cardiol
; 80(15): 1421-1430, 2022 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36202532
19.
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.
J Neuromuscul Dis
; 8(4): 495-502, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33814458
20.
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