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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: ahmed akma. 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.
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: ahmed akma. 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. Among authors: ahmed akma. Front Neurol. 2021 Aug 20;12:720201. doi: 10.3389/fneur.2021.720201. eCollection 2021. Front Neurol. 2021. PMID: 34489854 Free PMC article.
Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.
Dahawi M, de Sainte Agathe JM, Elmagzoub MS, Ahmed EA, Buratti J, Courtin T, Noé E, Bogoin J, Copin B, Elmugadam FA, Abdelgadir WA, Ahmed AKMA, Daldoum MA, Altayeb RMI, Bashir M, Khalid LM, Gamil S, Baldassari S, Elsayed L, Keren B, Nuel G, Ahmed AE, Leguern E. Dahawi M, et al. Among authors: ahmed akma. Hum Genomics. 2024 Nov 21;18(1):130. doi: 10.1186/s40246-024-00659-9. Hum Genomics. 2024. PMID: 39574152 Free PMC article.
Personalized mechanical ventilation guided by ultrasound in patients with acute respiratory distress syndrome (PEGASUS): study protocol for an international randomized clinical trial.
Sinnige JS, Smit MR, Ghose A, de Grooth HJ, Itenov TS, Ischaki E, Laffey J, Paulus F, Póvoa P, Pierrakos C, Pisani L, Roca O, Schultz MJ, Szuldrzynski K, Tuinman PR, Zimatore C, Bos LDJ; PEGASUS investigators. Sinnige JS, et al. Trials. 2024 May 7;25(1):308. doi: 10.1186/s13063-024-08140-7. Trials. 2024. PMID: 38715118 Free PMC article.