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.
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.
J Peripher Nerv Syst
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769024
3.
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
4.
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Acta Neuropathol
; 144(4): 707-731, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948834
5.
Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
Brain
; 146(5): e31-e32, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36759155
6.
Electrophysiological abnormalities of the neuromuscular transmission in two patients with botulism-like syndrome following Botulinum-A muscle injections.
Neurophysiol Clin
; 54(4): 102984, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38759365
7.
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
8.
Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease.
J Neurol
; 270(11): 5545-5560, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37540278
9.
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
10.
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.
Genes (Basel)
; 13(12)2022 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553512
11.
Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.
Genes (Basel)
; 12(12)2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946825