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Page 1
Disclosing the origin and diversity of Omani cattle.
Mahgoub O, Babiker HA, Kadim IT, Al-Kindi M, Hassan S, Al-Marzooqi W, Eltahir YE, Al-Abri MA, Al-Khayat A, Al-Sinani KR, Hilal Al-Khanjari H, Costa V, Chen S, Beja-Pereira A. Mahgoub O, et al. Anim Genet. 2013 Jun;44(3):336-9. doi: 10.1111/j.1365-2052.2012.02399.x. Epub 2012 Sep 10. Anim Genet. 2013. PMID: 22957920
Macular cystoid spaces in patients with retinal dystrophy.
Lingao MD, Ganesh A, Karthikeyan AS, Al Zuhaibi S, Al-Hosni A, Al Khayat A, Capasso J, Trumler AA, Stroh E, Al Shekaili H, Cater JR, Levin AV. Lingao MD, et al. Ophthalmic Genet. 2016 Dec;37(4):377-383. doi: 10.3109/13816810.2015.1101775. Epub 2016 Feb 19. Ophthalmic Genet. 2016. PMID: 26894784
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH. Ahmed MY, et al. Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318. Brain. 2017. PMID: 28052917 Free PMC article.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. Zollo M, et al. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. Brain. 2017. PMID: 28334956 Free PMC article.
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL. Tábara LC, et al. Among authors: al khayat a. Brain. 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123. Brain. 2022. PMID: 35718349 Free PMC article.
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH. Ahmed MY, et al. Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1. Neurology. 2015. PMID: 25832664 Free PMC article.
39 results