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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.
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
Yahia A, Elsayed L, Babai A, Salih MA, El-Sadig SM, Amin M, Koko M, Abubakr R, Idris R, Taha SOMA, Elmalik SA, Brice A, Ahmed AE, Stevanin G.
Yahia A, et al.
BMC Neurol. 2018 Oct 23;18(1):175. doi: 10.1186/s12883-018-1180-7.
BMC Neurol. 2018.
PMID: 30352563
Free PMC article.
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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
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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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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
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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.
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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.
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.
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