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Page 1
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
AlMuhaizea M, AlMass R, AlHargan A, AlBader A, Medico Salsench E, Howaidi J, Ihinger J, Karachunski P, Begtrup A, Segura Castell M, Bauer P, Bertoli-Avella A, Kaya IH, AlSufayan J, AlQuait L, Chedrawi A, Arold ST, Colak D, Barakat TS, Kaya N. AlMuhaizea M, et al. Among authors: kaya ih. Acta Neuropathol. 2020 Apr;139(4):791-794. doi: 10.1007/s00401-020-02128-8. Epub 2020 Jan 31. Acta Neuropathol. 2020. PMID: 32006098 No abstract available.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Medico Salsench E, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M, Abbas Al-Sannaa N, Girgis MY, Silveira TRD, Bauer P, Schroeder A, Fong CT, Begtrup A, Babaei M, Toosi MB, Ashrafzadeh F, Imannezhad S, Doosti M, Ahangari N, Najarzadeh Torbati P, Ghayoor Karimiani E, Murphy D, Cali E, Kaya IH, AlMuhaizea M, Colak D, Cardona-Londoño KJ, Arold ST, Houlden H, Bertoli-Avella A, Kaya N, Barakat TS. Medico Salsench E, et al. Among authors: kaya ih. Brain. 2021 Nov 29;144(10):e85. doi: 10.1093/brain/awab297. Brain. 2021. PMID: 34373908 Free PMC article. No abstract available.
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
Shay JW, Homma N, Zhou R, Naseer MI, Chaudhary AG, Al-Qahtani M, Hirokawa N, Goudarzi M, Fornace AJ Jr, Baeesa S, Hussain D, Bangash M, Alghamdi F, Schulten HJ, Carracedo A, Khan I, Qashqari H, Madkhali N, Saka M, Saini KS, Jamal A, Al-Maghrabi J, Abuzenadah A, Chaudhary A, Al Qahtani M, Damanhouri G, Alkhatabi H, Goodeve A, Crookes L, Niksic N, Beauchamp N, Abuzenadah AM, Vaught J, Budowle B, Assidi M, Buhmeida A, Al-Maghrabi J, Buhmeida A, Assidi M, Merdad L, Kumar S, Miura S, Gomez K, Carracedo A, Rasool M, Rebai A, Karim S, Eldin HFN, Abusamra H, Alhathli EM, Salem N, Al-Qahtani MH, Kumar S, Faheem H, Agarwa A, Nieschlag E, Wistuba J, Damm OS, Beg MA, Abdel-Meguid TA, Mosli HA, Bajouh OS, Abuzenadah AM, Al-Qahtani MH, Coskun S, Abu-Elmagd M, Buhmeida A, Dallol A, Al-Maghrabi J, Hakamy S, Al-Qahtani W, Al-Harbi A, Hussain S, Assidi M, Al-Qahtani M, Abuzenadah A, Ozkosem B, DuBois R, Messaoudi SS, Dandana MT, Mahjoub T, Almawi WY, Abdalla S, Al-Aama MN, Elzawahry A, Takahashi T, Mimaki S, Furukawa E, Nakatsuka R, Kurosaka I, Nishigaki T, Nakamura H, Serada S, Naka T, Hirota S, Shibata T, Tsuchihara K, Nishida T, Kato M, Mehmood S, Ashraf NM, Asif A, Bilal M, Mehmood MS, Hussain … See abstract for full author list ➔ Shay JW, et al. Among authors: kaya ih. BMC Genomics. 2016 Jul 20;17 Suppl 6(Suppl 6):487. doi: 10.1186/s12864-016-2858-0. BMC Genomics. 2016. PMID: 27454254 Free PMC article.
24 results