Detalhe da pesquisa
1.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol
; 92(1): 122-137, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35411967
2.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Brain
; 145(4): 1519-1534, 2022 05 24.
Artigo
Inglês
| MEDLINE | ID: mdl-34788392
3.
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Front Neurol
; 12: 720201, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34489854
4.
Derivation of keratinocytes from chicken embryonic stem cells: establishment and characterization of differentiated proliferative cell populations.
Stem Cell Res
; 14(2): 224-37, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25702531