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Page 1
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: ganieva m. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 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: ganieva m. Parkinsons Dis. 2019 Aug 8;2019:2905739. doi: 10.1155/2019/2905739. eCollection 2019. Parkinsons Dis. 2019. PMID: 31485304 Free PMC article. Review.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: ganieva m. Mov Disord. 2024 Jun;39(6):983-995. doi: 10.1002/mds.29754. Epub 2024 Apr 6. Mov Disord. 2024. PMID: 38581205
Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.
Kaiyrzhanov R, Zharkinbekova N, Guliyeva U, Ganieva M, Tavadyan Z, Gachechiladze T, Salayev K, Guliyeva S, Isayan M, Kekenadze M, Sukhudyan B, Gevorgyan A, Hakobyan A, Ibadova R, Tabatadze N, Kurua E, Shatirishvili T, Yerkhojayeva N, Koneev K, Zhumakhanov D, Mukushev A, Jaxybayeva A, Nauryzbayeva A, Isrofilov M, Badalova S, Zeyniyeva N, Hajiyeva I, Alakbarov L, Zeynalova A, Chelban V, Vandrovcova J, Turchetti V, Murphy D, Efthymiou S, Alavi S, Mohammad R, Tkemaladze T, Shashkin C, Tatishvili NN, Beridze M, Khachatryan SG, Melikishvili G, Hardy J, Maroofian R, Houlden H. Kaiyrzhanov R, et al. Among authors: ganieva m. Nat Genet. 2024 Nov 22. doi: 10.1038/s41588-024-02016-x. Online ahead of print. Nat Genet. 2024. PMID: 39578646 No abstract available.