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Page 1
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. Among authors: elsayed leo. 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
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: elsayed leo. 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: elsayed leo. Parkinsonism Relat Disord. 2023 Jun;111:105401. doi: 10.1016/j.parkreldis.2023.105401. Epub 2023 Apr 25. Parkinsonism Relat Disord. 2023. PMID: 37150071
PLA2G6-associated late-onset parkinsonism in a Sudanese family.
Bakhit Y, Tesson C, Ibrahim MO, Eltom K, Eltazi I, Elsayed LEO, Lesage S, Seidi O, Corvol JC, Wüllner U; Sudanese Parkinson's Disease Study Group. Bakhit Y, et al. Among authors: elsayed leo. Ann Clin Transl Neurol. 2023 Jun;10(6):983-989. doi: 10.1002/acn3.51781. Epub 2023 May 3. Ann Clin Transl Neurol. 2023. PMID: 37139542 Free PMC article.
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: elsayed leo. 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
Met/HGFR triggers detrimental reactive microglia in TBI.
Rehman R, Miller M, Krishnamurthy SS, Kjell J, Elsayed L, Hauck SM, Olde Heuvel F, Conquest A, Chandrasekar A, Ludolph A, Boeckers T, Mulaw MA, Goetz M, Morganti-Kossmann MC, Takeoka A, Roselli F. Rehman R, et al. Among authors: elsayed l. Cell Rep. 2022 Dec 27;41(13):111867. doi: 10.1016/j.celrep.2022.111867. Cell Rep. 2022. PMID: 36577378 Free 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: elsayed leo. 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.
54 results