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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Eur J Hum Genet. 2016 Jan;25(1):100-110. doi: 10.1038/ejhg.2016.108. Epub 2016 Sep 7.
Eur J Hum Genet. 2016.
PMID: 27601211
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.
Front Neurol. 2021 Aug 20;12:720201. doi: 10.3389/fneur.2021.720201. eCollection 2021.
Front Neurol. 2021.
PMID: 34489854
Free PMC article.
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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.
Eur J Hum Genet. 2023 Apr 3. doi: 10.1038/s41431-023-01344-6. Online ahead of print.
Eur J Hum Genet. 2023.
PMID: 37012327
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Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, Eltaraifee E, Ibrahim MOM, Ali NMH, Malik HM, Babai AM, Bakhit YH, Nürnberg P, Ibrahim ME, Salih MA, Schubert J, Elsayed LEO, Lerche H.
Koko M, et al.
Eur J Hum Genet. 2024 Feb 5. doi: 10.1038/s41431-024-01541-x. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38316952
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