Detalhe da pesquisa
1.
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Eur J Hum Genet
; 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316952
2.
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Eur J Hum Genet
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37012327
3.
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Front Neurol
; 12: 720201, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34489854
4.
Bypassing ubiquitination enables LAT recycling to the cell surface and enhanced signaling in T cells.
PLoS One
; 15(2): e0229036, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32084172
5.
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Eur J Hum Genet
; 25(1): 100-110, 2016 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27601211
6.
A screen to identify cellular modulators of soluble levels of an amyotrophic lateral sclerosis (ALS)-causing mutant SOD1.
J Biomol Screen
; 16(9): 974-85, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21875953