Detalhe da pesquisa
1.
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Hum Genet
; 142(12): 1747-1754, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37957369
2.
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Ann Hum Genet
; 86(4): 181-194, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35118659
3.
Novel variants causing megalencephalic leukodystrophy in Sudanese families.
J Hum Genet
; 67(3): 127-132, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34504271
4.
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.
BMC Neurol
; 21(1): 78, 2021 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33602173
5.
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
medRxiv
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38798571
6.
Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan.
Parkinsonism Relat Disord
; 111: 105401, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37150071
7.
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
8.
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
BMC Med Genomics
; 15(1): 236, 2022 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348459
9.
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Front Genet
; 13: 883211, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35719383
10.
Methylation of alpha-synuclein in a Sudanese cohort.
Parkinsonism Relat Disord
; 101: 6-8, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35728367
11.
Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy.
Front Neurol
; 12: 738272, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34744978
12.
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
13.
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.
Front Neurol
; 11: 569996, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33193012