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[Psychometric properties of the Stigma Scale of Epilepsy].
Gersamiya AG, Parfenova EV, Yakovlev AA, Zharkinbekova NA, Rider FK. Gersamiya AG, et al. Among authors: zharkinbekova na. Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(11. Vyp. 2):29-33. doi: 10.17116/jnevro201911911229. Zh Nevrol Psikhiatr Im S S Korsakova. 2019. PMID: 32207728 Review. Russian.
[First cases of Pompe's disease in Kazakhstan].
Zharkinbekova NA, Mukhambetova GA, Kaishibayeva GS, Zhiyenbayeva BS, Zhumagulova KB, Kaishibayev SN, Iglikova AE, Suleimanova SY. Zharkinbekova NA, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(8):85-87. doi: 10.17116/jnevro20171178185-87. Zh Nevrol Psikhiatr Im S S Korsakova. 2017. PMID: 28884723 Russian.
LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan.
Kaiyrzhanov R, Aitkulova A, Shashkin C, Zharkinbekova N, Rizig M, Zholdybayeva E, Jarmukhanov Z, Akhmetzhanov V, Kaishibayeva G, Khaibullin T, Karimova A, Akshulakov S, Bralov A, Kissamedenov N, Seidinova Z, Taskinbayeva A, Muratbaikyzy A, Houlden H. Kaiyrzhanov R, et al. Parkinsons Dis. 2020 Feb 19;2020:2763838. doi: 10.1155/2020/2763838. eCollection 2020. Parkinsons Dis. 2020. PMID: 32148752 Free PMC article.
A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.
Kaiyrzhanov R, Aitkulova A, Vandrovcova J, Murphy D, Zharkinbekova N, Shashkin C, Akhmetzhanov V, Kaishibayeva G, Karimova A, Myrzayev Z, Murray M, Khaibullin T, Hardy J, Houlden H. Kaiyrzhanov R, et al. Mol Genet Genomic Med. 2021 Jun;9(6):e1671. doi: 10.1002/mgg3.1671. Epub 2021 Apr 5. Mol Genet Genomic Med. 2021. PMID: 33818904 Free PMC article.
Parkinson's Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care.
Kaiyrzhanov R, Rizig M, Aitkulova A, Zharkinbekova N, Shashkin C, Kaishibayeva G, Karimova A, Khaibullin T, Sadykova D, Ganieva M, Rasulova K, Houlden H. Kaiyrzhanov R, et al. Parkinsons Dis. 2019 Aug 8;2019:2905739. doi: 10.1155/2019/2905739. eCollection 2019. Parkinsons Dis. 2019. PMID: 31485304 Free PMC article. Review.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
Parkinson's Disease in Kazakhstan: Clinico-Demographic Description of a Large Cohort.
Kaiyrzhanov R, Zharkinbekova N, Shashkin C, Khaibullin T, Kaishibayeva G, Akhmetzhanov V, Sadykova DZ, Seidinova Z, Taskinbayeva A, Karimova A, Rizig M, Houlden H. Kaiyrzhanov R, et al. J Parkinsons Dis. 2020;10(2):707-709. doi: 10.3233/JPD-191782. J Parkinsons Dis. 2020. PMID: 32144996 Free PMC article. No abstract available.
17 results