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Page 1
The distinct genetic pattern of ALS in Turkey and novel mutations.
Özoğuz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, Ömür Ö, Agim ZS, Eken AG, Sen NE, Kavak P, Saygı C, Sapp PC, Keagle P, Parman Y, Tan E, Koç F, Deymeer F, Oflazer P, Hanağası H, Gürvit H, Bilgiç B, Durmuş H, Ertaş M, Kotan D, Akalın MA, Güllüoğlu H, Zarifoğlu M, Aysal F, Döşoğlu N, Bilguvar K, Günel M, Keskin Ö, Akgün T, Özçelik H, Landers JE, Brown RH, Başak AN. Özoğuz A, et al. Among authors: uyan o. Neurobiol Aging. 2015 Apr;36(4):1764.e9-1764.e18. doi: 10.1016/j.neurobiolaging.2014.12.032. Epub 2015 Jan 10. Neurobiol Aging. 2015. PMID: 25681989 Free PMC article.
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.
Dominov JA, Uyan O, Sapp PC, McKenna-Yasek D, Nallamilli BR, Hegde M, Brown RH Jr. Dominov JA, et al. Among authors: uyan o. Ann Clin Transl Neurol. 2014 Sep;1(9):703-20. doi: 10.1002/acn3.96. Epub 2014 Sep 27. Ann Clin Transl Neurol. 2014. PMID: 25493284 Free PMC article.
Imaging Net Retrograde Axonal Transport In Vivo: A Physiological Biomarker.
Lee PJ, Kennedy Z, Wang Y, Lu Y, Cefaliello C, Uyan Ö, Song CQ, Godinho BMC, Xu Z, Rusckowski M, Xue W, Brown RH Jr. Lee PJ, et al. Among authors: uyan o. Ann Neurol. 2022 May;91(5):716-729. doi: 10.1002/ana.26329. Epub 2022 Mar 19. Ann Neurol. 2022. PMID: 35178738 Free PMC article.
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Dominov JA, Uyan Ö, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, Bartoli M, Levy N, Hudson J, Evangelista T, Lochmuller H, Krahn M, Rufibach L, Hegde M, Brown RH Jr. Dominov JA, et al. Among authors: uyan o. Ann Clin Transl Neurol. 2019 Mar 3;6(4):642-654. doi: 10.1002/acn3.738. eCollection 2019 Apr. Ann Clin Transl Neurol. 2019. PMID: 31019989 Free PMC article.
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.
Bilches Medinas D, Malik S, Yıldız-Bölükbaşı E, Borgonovo J, Saaranen MJ, Urra H, Pulgar E, Afzal M, Contreras D, Wright MT, Bodaleo F, Quiroz G, Rozas P, Mumtaz S, Díaz R, Rozas C, Cabral-Miranda F, Piña R, Valenzuela V, Uyan O, Reardon C, Woehlbier U, Brown RH, Sena-Esteves M, Gonzalez-Billault C, Morales B, Plate L, Ruddock LW, Concha ML, Hetz C, Tolun A. Bilches Medinas D, et al. Among authors: uyan o. EMBO J. 2022 Dec 17;41(2):e105531. doi: 10.15252/embj.2020105531. Epub 2021 Dec 14. EMBO J. 2022. PMID: 34904718 Free PMC article.