Detalhe da pesquisa
1.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Int J Mol Sci
; 23(19)2022 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233161
2.
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
Mov Disord Clin Pract
; 10(6): 992-997, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37332636
3.
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Neurol Genet
; 8(6): e200038, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36530930
4.
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
J Neurol Sci
; 429: 118062, 2021 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34500365
5.
Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dystonia with Prominent Cranio-Cervical Involvement.
Mov Disord Clin Pract
; 8(6): 966-968, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405107
6.
A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism.
Neurol Genet
; 7(6): e642, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34825060