Detalhe da pesquisa
1.
Phenotypic variability in a large kindred with spastic paraplegia associated with a novel REEP1 variant.
eNeurologicalSci
; 35: 100497, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38525447
2.
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Front Neurol
; 14: 1170005, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37273706
3.
Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence.
Drug Des Devel Ther
; 16: 1865-1883, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35734367
4.
Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy.
Eur J Paediatr Neurol
; 22(1): 178-181, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28964670
5.
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.
Clin Case Rep
; 6(11): 2103-2110, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30455901