Detalhe da pesquisa
1.
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia.
J Hum Genet
; 2024 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38866925
2.
Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia.
Mov Disord
; 38(9): 1750-1755, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37394769
3.
Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia.
Neurol Genet
; 10(3): e200162, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38841628
4.
Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3.
J Neurol
; 271(2): 918-928, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37848650
5.
Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study.
BMJ Open
; 12(1): e054011, 2022 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35017251
6.
Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
Ann Clin Transl Neurol
; 8(1): 266-270, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314640
7.
Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.
Front Neurol
; 12: 627531, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34093392