Detalhe da pesquisa
1.
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Brain
; 2024 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38884572
2.
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Brain
; 145(11): 3770-3775, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35883251
3.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234304
4.
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
J Neurol
; 268(5): 1927-1937, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417001