Detalhe da pesquisa
1.
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
2.
Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.
Front Neurol
; 13: 909715, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35720108
3.
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
4.
Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function.
Neuromuscul Disord
; 12(5): 484-93, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12031622