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Page 1
Prevalence of Fabry Disease among Patients with Parkinson's Disease.
Lackova A, Beetz C, Oppermann S, Bauer P, Pavelekova P, Lorincova T, Ostrozovicova M, Kulcsarova K, Cobejova J, Cobej M, Levicka P, Liesenerova S, Sendekova D, Sukovska V, Gdovinova Z, Han V, Rizig M, Houlden H, Skorvanek M. Lackova A, et al. Among authors: houlden h. Parkinsons Dis. 2022 Jan 24;2022:1014950. doi: 10.1155/2022/1014950. eCollection 2022. Parkinsons Dis. 2022. PMID: 35111290 Free PMC article.
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A; International Parkinson’s Disease Genomics Consortium (IPDGC); Ryten M, Koks S. Billingsley KJ, et al. NPJ Parkinsons Dis. 2019 May 22;5:8. doi: 10.1038/s41531-019-0080-x. eCollection 2019. NPJ Parkinsons Dis. 2019. PMID: 31123700 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: houlden h. 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: houlden h. 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.
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. Among authors: houlden h. Parkinsons Dis. 2020 Feb 19;2020:2763838. doi: 10.1155/2020/2763838. eCollection 2020. Parkinsons Dis. 2020. PMID: 32148752 Free PMC article.
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.
Maroofian R, Sedmík J, Mazaheri N, Scala M, Zaki MS, Keegan LP, Azizimalamiri R, Issa M, Shariati G, Sedaghat A, Beetz C, Bauer P, Galehdari H, O'Connell MA, Houlden H. Maroofian R, et al. Among authors: houlden h. J Med Genet. 2021 Jul;58(7):495-504. doi: 10.1136/jmedgenet-2020-107048. Epub 2020 Jul 27. J Med Genet. 2021. PMID: 32719099 Free PMC article.
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K; Undiagnosed Diseases Network; Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. Ghosh SG, et al. Among authors: houlden h. Eur J Hum Genet. 2021 Feb;29(2):271-279. doi: 10.1038/s41431-020-00717-5. Epub 2020 Sep 8. Eur J Hum Genet. 2021. PMID: 32901138 Free PMC article.
880 results