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Perspectives on current models of Friedreich's ataxia.
Kelekçi S, Yıldız AB, Sevinç K, Çimen DU, Önder T. Kelekçi S, et al. Among authors: cimen du. Front Cell Dev Biol. 2022 Aug 11;10:958398. doi: 10.3389/fcell.2022.958398. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36036008 Free PMC article.
Generation of transgene-free iPSC lines from three patients with Friedreich's ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene.
Kelekçi S, Uğurlu-Çimen D, Demir AB, Özçimen B, Burak Yıldız A, Batuhan Karakuş M, Börklü Yücel E, Önder TT. Kelekçi S, et al. Among authors: ugurlu cimen d. Stem Cell Res. 2021 Jul;54:102438. doi: 10.1016/j.scr.2021.102438. Epub 2021 Jun 27. Stem Cell Res. 2021. PMID: 34214898 Free article.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Çïmen DU, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Nguyen Ly TT, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: cimen du. Am J Hum Genet. 2021 Jul 1;108(7):1356. doi: 10.1016/j.ajhg.2021.06.009. Am J Hum Genet. 2021. PMID: 34214448 Free PMC article. No abstract available.