Detalhe da pesquisa
1.
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Eur J Neurol
; 28(4): 1188-1197, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33175450
2.
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
Brain
; 141(7): 1981-1997, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29939198
3.
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Front Neurol
; 12: 677551, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34248822
4.
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.
Neurol Genet
; 7(1): e543, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33585677