Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

17 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.
Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Salih MAM, Yahia A, Abubaker R, Koko M, Abd Allah ASI, Elbashir MI, Ibrahim ME, Brice A, Ahmed AE, Stevanin G. Elsayed LEO, et al. Among authors: abubaker r. Front Neurol. 2020 Oct 29;11:569996. doi: 10.3389/fneur.2020.569996. eCollection 2020. Front Neurol. 2020. PMID: 33193012 Free PMC article.
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N, Abubaker R, Koko M, Abozar F, Malik H, Adil R, Emad S, Musallam MA, Idris R, Eltazi IZM, Babai A, Ahmed EAA, Abd Allah ASI, Mairey M, Ahmed AKMA, Elbashir MI, Brice A, Ibrahim ME, Ahmed AE, Lamari F, Stevanin G. Yahia A, et al. Among authors: abubaker r. Front Neurol. 2021 Aug 20;12:720201. doi: 10.3389/fneur.2021.720201. eCollection 2021. Front Neurol. 2021. PMID: 34489854 Free PMC article.
Novel variants causing megalencephalic leukodystrophy in Sudanese families.
Amin M, Vignal C, Hamed AAA, Mohammed IN, Elseed MA, Drunat S, Babai A, Eltaraifee E, Elbadi I, Abubaker R, Mustafa D, Yahia A, Koko M, Osman M, Bakhit Y, Elshafea A, Alsiddig M, Haroun S, Lelay G, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I. Amin M, et al. Among authors: abubaker r. J Hum Genet. 2022 Mar;67(3):127-132. doi: 10.1038/s10038-021-00945-7. Epub 2021 Sep 10. J Hum Genet. 2022. PMID: 34504271
Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy.
Dahawi M, Elmagzoub MS, A Ahmed E, Baldassari S, Achaz G, Elmugadam FA, Abdelgadir WA, Baulac S, Buratti J, Abdalla O, Gamil S, Alzubeir M, Abubaker R, Noé E, Elsayed L, Ahmed AE, Leguern E. Dahawi M, et al. Among authors: abubaker r. Front Neurol. 2021 Oct 21;12:738272. doi: 10.3389/fneur.2021.738272. eCollection 2021. Front Neurol. 2021. PMID: 34744978 Free PMC article.
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Yahia A, Ayed IB, Hamed AA, Mohammed IN, Elseed MA, Bakhiet AM, Guillot-Noel L, Abozar F, Adil R, Emad S, Abubaker R, Musallam MA, Eltazi IZM, Omer Z, Maaroof OM, Soussi A, Bouzid A, Kmiha S, Kamoun H, Salih MA, Ahmed AE, Elsayed L, Masmoudi S, Stevanin G. Yahia A, et al. Among authors: abubaker r. Ann Hum Genet. 2022 Jul;86(4):181-194. doi: 10.1111/ahg.12460. Epub 2022 Feb 3. Ann Hum Genet. 2022. PMID: 35118659
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.
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
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.
17 results