Detalhe da pesquisa
1.
Spontaneous triple vessel cervicocephalic artery dissection in a young gentleman: A case report.
Qatar Med J
; 2024(1): 6, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38344402
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.
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
4.
PLA2G6-associated late-onset parkinsonism in a Sudanese family.
Ann Clin Transl Neurol
; 10(6): 983-989, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37139542
5.
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
6.
COVID-19 Vaccine as a Potential Triggering Factor for Anti-Glomerular Basement Membrane (GBM) Disease: A Case Report and Literature Review.
Cureus
; 14(9): e29075, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36258941
7.
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.
Front Mol Biosci
; 8: 690899, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34901147
8.
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
9.
Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies.
Expert Rev Neurother
; 19(5): 409-415, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31037979