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 | 81 | 2016 |
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 | 46 | 2014 |
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 | 40 | 2017 |
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 | 21 | 2019 |
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 | 21 | 2018 |
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 | 15 | 2018 |
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 | 10 | 2021 |
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 | 10 | 2021 |
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 | 10 | 2020 |
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 | 8 | 2022 |
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 | 8 | 2021 |
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 | 7 | 2022 |
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 | 6 | 2021 |
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 | 5 | 2023 |
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 | 3 | 2022 |
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 | 1 | 2023 |
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, ... | 1 | 2022 |
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 |