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Page 1
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Flannery KP, Safwat S, Matsell E, Battula N, Hamed AAA, Mohamed IN, Elseed MA, Koko M, Abubaker R, Abozar F, Elsayed LEO, Bhise V, Molday RS, Salih MA, Yahia A, Manzini MC. Flannery KP, et al. Among authors: abubaker r. Neurogenetics. 2024 Oct;25(4):425-433. doi: 10.1007/s10048-024-00773-9. Epub 2024 Jul 27. Neurogenetics. 2024. PMID: 39066872 Free PMC article.
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Flannery KP, Safwat S, Matsell E, Battula N, Hamed AAA, Mohamed IN, Elseed MA, Koko M, Abubaker R, Abozar F, Elsayed LEO, Bhise V, Molday RS, Salih MA, Yahia A, Manzini MC. Flannery KP, et al. Among authors: abubaker r. medRxiv [Preprint]. 2024 May 15:2024.05.15.24306843. doi: 10.1101/2024.05.15.24306843. medRxiv. 2024. Update in: Neurogenetics. 2024 Oct;25(4):425-433. doi: 10.1007/s10048-024-00773-9. PMID: 38798571 Free PMC article. Updated. Preprint.
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Martins S, Yahia A, Costa IPD, Siddig HE, Abubaker R, Koko M, Corral-Juan M, Matilla-Dueñas A, Brice A, Durr A, Leguern E, Ranum LPW, Amorim A, Elsayed LEO, Stevanin G, Sequeiros J. Martins S, et al. Among authors: abubaker r. Hum Genet. 2023 Dec;142(12):1747-1754. doi: 10.1007/s00439-023-02611-8. Epub 2023 Nov 14. Hum Genet. 2023. PMID: 37957369 Free PMC article.
Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan.
Bakhit Y, Ibrahim MO, Tesson C, Elhassan AA, Ahmed MA, Alebeed MA, Elrasheed SM, Omar MA, Abubaker R, Eltom K, Shaheen MT, Ibrahim YA, Almak ME, Ali HA, Abugrain AA, Almahal MA, MohamedSharif AA, Tahir MY, Malik SM, Eldirdiri Abdelrahman H, Khidir RJ, Mohamed MT, Abdalla A, Elsayed LEO, Lesage S, Corvol JC, Seidi O, Wüllner U. Bakhit Y, et al. Among authors: abubaker r. Parkinsonism Relat Disord. 2023 Jun;111:105401. doi: 10.1016/j.parkreldis.2023.105401. Epub 2023 Apr 25. Parkinsonism Relat Disord. 2023. PMID: 37150071
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Yahia A, Hamed AAA, Mohamed IN, Elseed MA, Salih MA, El-Sadig SM, Siddig HE, Nasreldien AEM, Abdullah MA, Elzubair M, Omer FY, Bakhiet AM, Abubaker R, Abozar F, Adil R, Emad S, Musallam MA, Eltazi IZM, Omer Z, Malik H, Mohamed MOE, Elhassan AA, Mohamed EOE, Ahmed AKMA, Ahmed EAA, Eltaraifee E, Hussein BK, Abd Allah ASI, Salah L, Nimir M, Tag Elseed OM, Elhassan TEA, Elbashier A, Alfadul ESA, Fadul M, Ali KF, Taha SOMA, Bushara EE, Amin M, Koko M, Ibrahim ME, Ahmed AE, Elsayed LEO, Stevanin G. Yahia A, et al. Among authors: abubaker r. Eur J Hum Genet. 2024 Oct;32(10):1214-1226. doi: 10.1038/s41431-023-01344-6. Epub 2023 Apr 3. Eur J Hum Genet. 2024. PMID: 37012327 Free PMC article.
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Amin M, Vignal C, Eltaraifee E, Mohammed IN, Hamed AAA, Elseed MA, Babai A, Elbadi I, Mustafa D, Abubaker R, Mustafa M, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I. Amin M, et al. Among authors: abubaker r. BMC Med Genomics. 2022 Nov 8;15(1):236. doi: 10.1186/s12920-022-01354-1. BMC Med Genomics. 2022. PMID: 36348459 Free PMC article.
Methylation of alpha-synuclein in a Sudanese cohort.
Bakhit Y, Schmitt I, Hamed A, Ibrahim EAA, Mohamed IN, El-Sadig SM, Elseed MA, Alebeed MA, Shaheen MT, Ibrahim MO, Elhassan AA, Eltom K, Ali HA, Ibrahim YA, Almak ME, Abubaker R, Ahmed MA, Abugrain AA, Elrasheed SM, Omar MA, Almahal MA, MohamedSharif AA, Tahir MY, Malik SM, Eldirdiri HS, Khidir RJ, Mohamed MT, Abdalla A, Omer FY, Elsayed LEO, Babikir HEH, Bukhari EA, Seidi O, Wüllner U. Bakhit Y, et al. Among authors: abubaker r. Parkinsonism Relat Disord. 2022 Aug;101:6-8. doi: 10.1016/j.parkreldis.2022.05.009. Epub 2022 Jun 4. Parkinsonism Relat Disord. 2022. PMID: 35728367
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Amin M, Vignal C, Hamed AAA, Mohammed IN, Elseed MA, Abubaker R, Bakhit Y, Babai A, Elbadi E, Eltaraifee E, Mustafa D, Yahia A, Osman M, Koko M, Mustafa M, Alsiddig M, Haroun S, Elshafea A, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I. Amin M, et al. Among authors: abubaker r. Front Genet. 2022 Jun 2;13:883211. doi: 10.3389/fgene.2022.883211. eCollection 2022. Front Genet. 2022. PMID: 35719383 Free PMC article.
17 results