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Page 1
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: ghayoor karimiani e. Brain. 2021 Nov 29;144(10):e85. doi: 10.1093/brain/awab297. Brain. 2021. PMID: 34373908 Free PMC article. No abstract available.
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Dehghani M, Mojarad M, Ghayoor Karimiani E, Vahidi Mehrjardi MY, Sahebalzamani A, Ashrafzadeh F, Beiraghi Toosi M, Eslahi A, Ahangari N, Yassini SM, Hassanbeigi A, Rasti A, Kalantar SM, Maroofian R. Dehghani M, et al. Among authors: ghayoor karimiani e. Public Health Genomics. 2017;20(3):188-193. doi: 10.1159/000477560. Epub 2017 Jul 19. Public Health Genomics. 2017. PMID: 28719906
Hereditary thrombophilia genetic variants in recurrent pregnancy loss.
Ahangari N, Doosti M, Mousavifar N, Attaran M, Shahrokhzadeh S, Memarpour S, Ghayoor Karimiani E. Ahangari N, et al. Among authors: ghayoor karimiani e. Arch Gynecol Obstet. 2019 Sep;300(3):777-782. doi: 10.1007/s00404-019-05224-7. Epub 2019 Jul 17. Arch Gynecol Obstet. 2019. PMID: 31317253
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Chelban V, et al. Among authors: ghayoor karimiani e. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17. Eur J Neurol. 2020. PMID: 31509304 Free PMC article.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Among authors: ghayoor karimiani e. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.
Mutations in TAF8 cause a neurodegenerative disorder.
Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P. Wong KM, et al. Among authors: ghayoor karimiani e. Brain. 2022 Sep 14;145(9):3022-3034. doi: 10.1093/brain/awac154. Brain. 2022. PMID: 35759269 Review.
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Dafsari HS, Pemberton JG, Ferrer EA, Yammine T, Farra C, Mohammadi MH, Ghayoor Karimiani E, Hashemi N, Souaid M, Sabbagh S, Najarzadeh Torbati P, Khan S, Roze E, Moreno-De-Luca A, Bertoli-Avella AM, Houlden H, Balla T, Maroofian R. Dafsari HS, et al. Among authors: ghayoor karimiani e. Ann Clin Transl Neurol. 2022 Sep;9(9):1345-1358. doi: 10.1002/acn3.51634. Epub 2022 Jul 25. Ann Clin Transl Neurol. 2022. PMID: 35880319 Free PMC article.
Chloride Channel Mutations Leading to Congenital Myotonia.
Nik A, Ahangari N, Najarzadeh Torbati P, Boostani R, Ghayoor Karimiani E. Nik A, et al. Among authors: ghayoor karimiani e. Cureus. 2022 Dec 17;14(12):e32649. doi: 10.7759/cureus.32649. eCollection 2022 Dec. Cureus. 2022. PMID: 36540316 Free PMC article.
26 results