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Ashraf Yahia
Ashraf Yahia
Department of Women's and Children's Health, Karolinska Institutet
Verified email at ki.se - Homepage
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Cited by
Cited by
Year
A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson’s disease
LE Elsayed, V Drouet, T Usenko, IN Mohammed, AA Hamed, MA Elseed, ...
Ann Neurol 79 (2), 335-337, 2016
812016
Contribution of noncommunicable diseases to medical admissions of elderly adults in Africa: a prospective, cross‐sectional study in Nigeria, Sudan, and Tanzania
RO Akinyemi, IMH Izzeldin, C Dotchin, WK Gray, O Adeniji, OA Seidi, ...
Journal of the American Geriatrics Society 62 (8), 1460-1466, 2014
462014
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, A Johnson, ...
European Journal of Human Genetics 25 (1), 100-110, 2017
402017
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
ES Cauley, A Hamed, IN Mohamed, M Elseed, S Martinez, A Yahia, ...
Neurogenetics 20, 91-98, 2019
212019
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate …
A Yahia, L Elsayed, A Babai, MA Salih, SM El-Sadig, M Amin, M Koko, ...
BMC neurology 18, 1-6, 2018
212018
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, MAM Salih, ...
BMC medical genetics 19, 1-5, 2018
152018
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
A Yahia, ZS Chen, AE Ahmed, S Emad, R Adil, R Abubaker, SOMA Taha, ...
BMC neurology 21, 1-5, 2021
102021
The history of gene hunting in hereditary spinocerebellar degeneration: Lessons from the past and future perspectives
A Yahia, G Stevanin
Frontiers in genetics 12, 638730, 2021
102021
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family
LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, MAM Salih, ...
Frontiers in neurology 11, 569996, 2020
102020
Novel variants causing megalencephalic leukodystrophy in Sudanese families
M Amin, C Vignal, AAA Hamed, IN Mohammed, MA Elseed, S Drunat, ...
Journal of Human Genetics 67 (3), 127-132, 2022
82022
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
A Yahia, LEO Elsayed, R Valter, AAA Hamed, IN Mohammed, MA Elseed, ...
Frontiers in Neurology 12, 720201, 2021
82021
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing
A Yahia, IB Ayed, AA Hamed, IN Mohammed, MA Elseed, AM Bakhiet, ...
Annals of Human Genetics 86 (4), 181-194, 2022
72022
An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous …
M Koko, A Yahia, LE Elsayed, AA Hamed, IN Mohammed, MA Elseed, ...
Annals of Human Genetics 85 (5), 186-195, 2021
62021
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
A Yahia, AAA Hamed, IN Mohamed, MA Elseed, MA Salih, SM El-Sadig, ...
European Journal of Human Genetics, 1-13, 2023
52023
Case report: a new family with pontocerebellar hypoplasia 10 from Sudan
M Amin, C Vignal, AAA Hamed, IN Mohammed, MA Elseed, R Abubaker, ...
Frontiers in genetics 13, 883211, 2022
32022
Consanguinity and willingness to perform premarital genetic screening in Sudan
YAM Elhadi, SS Alrawa, ESA Alfadul, EAA Mahgoub, A El-Osta, SA Belal, ...
European Journal of Human Genetics, 1-8, 2023
12023
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degeneration
G Stevanin, A Hamed, I Mohamed, M Elseed, M Salih, S Elsadig, ...
12022
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
KP Flannery, S Safwat, E Matsell, N Battula, AAA Hamed, IN Mohamed, ...
medRxiv, 2024
2024
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
M Koko, MA Elseed, IN Mohammed, AA Hamed, ASI Abd Allah, A Yahia, ...
European Journal of Human Genetics, 1-5, 2024
2024
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
A Yahia, D Li, S Lejerkrans, S Rajagopalan, N Kalnak, K Tammimies
Human Genetics 143 (2), 169-183, 2024
2024
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