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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Johnson A, Mairey M, Mohamed HESA, Idris MN, Salih MAM, El-Sadig SM, Koko ME, Mohamed AYO, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AKMA, Babai AMA, Malik HMO, Omer ZMBM, Mohamed EOE, Eltahir HB, Magboul NAA, Bushara EE, Elnour A, Rahim SMA, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G. Elsayed LEO, et al. Among authors: babai ama. 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.
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko M, Yahia A, Elsayed LE, Hamed AA, Mohammed IN, Elseed MA, Hamad MHA, Babai AM, Siddig RA, Abd Allah ASI, Mohamed M, El-Amin M, Esteves T, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Salih MA, Ahmed AE, Lerche H, Stevanin G. Koko M, et al. Ann Hum Genet. 2021 Sep;85(5):186-195. doi: 10.1111/ahg.12437. Epub 2021 Jun 10. Ann Hum Genet. 2021. PMID: 34111303
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.
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. 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
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. Front Genet. 2022 Jun 2;13:883211. doi: 10.3389/fgene.2022.883211. eCollection 2022. Front Genet. 2022. PMID: 35719383 Free PMC article.