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Page 1
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.
Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB; 23andMe Research Team; System Genomics of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium. Nalls MA, et al. Lancet Neurol. 2019 Dec;18(12):1091-1102. doi: 10.1016/S1474-4422(19)30320-5. Lancet Neurol. 2019. PMID: 31701892 Free PMC article.
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. Among authors: zharkinbekova n. 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.
[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.
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.
Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Grosset DG, Lesage S, Corvol JC, Brice A, Wood N, Hardy J, Gan-Or Z, Heutink P, Gasser T, Morris HR, Noyce AJ, Nalls MA, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Ann Neurol. 2021 Jul;90(1):35-42. doi: 10.1002/ana.26090. Epub 2021 May 24. Ann Neurol. 2021. PMID: 33901317 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. Among authors: zharkinbekova n. Parkinsons Dis. 2019 Aug 8;2019:2905739. doi: 10.1155/2019/2905739. eCollection 2019. Parkinsons Dis. 2019. PMID: 31485304 Free PMC article. Review.
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. Among authors: zharkinbekova n. 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.
[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.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R; SYNaPS Study Group; Amato AA, Gregory A, Hayflick SJ; Queen Square Genomics; Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS. Poole OV, et al. Ann Neurol. 2021 Jun;89(6):1240-1247. doi: 10.1002/ana.26063. Epub 2021 Apr 1. Ann Neurol. 2021. PMID: 33704825 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. Among authors: zharkinbekova n. 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.
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