Detalhe da pesquisa
1.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37119330
2.
Spliceosome Mutations in Uveal Melanoma.
Int J Mol Sci
; 21(24)2020 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33333932
3.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Brain
; 144(10): e85, 2021 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34373908
4.
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
Acta Neuropathol
; 139(4): 791-794, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32006098
5.
Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma.
Cancers (Basel)
; 14(3)2022 Feb 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35159112
6.
The non-coding genome in genetic brain disorders: new targets for therapy?
Essays Biochem
; 65(4): 671-683, 2021 10 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34414418