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LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study.
Skorvanek M, Rizig M, Athanasiou-Fragkouli A, Necpal J, Straka I, Tamas G, Kurca E, Mosejova A, Han V, Lorincova T, Ostrozovicova M, Liesenerova S, Levicka P, Fajcikova L, Minar M, Valkovic P, Mákos O, Kelemen A, Grofik M, Cibulka M, Jama F, Houlden H; members of the CEGEMOD study group. Skorvanek M, et al. Among authors: houlden h. Parkinsonism Relat Disord. 2021 Feb;83:110-112. doi: 10.1016/j.parkreldis.2020.12.021. Epub 2021 Jan 11. Parkinsonism Relat Disord. 2021. PMID: 33561776 No abstract available.
Syndromic associations and RNF216 mutations.
Ganos C, Hersheson J, Adams M, Bhatia KP, Houlden H. Ganos C, et al. Among authors: houlden h. Parkinsonism Relat Disord. 2015 Nov;21(11):1389-90. doi: 10.1016/j.parkreldis.2015.09.010. Epub 2015 Sep 4. Parkinsonism Relat Disord. 2015. PMID: 26421393 No abstract available.
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.
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Ostrozovicova M, Jech R, Steel D, Pavelekova P, Han V, Gdovinova Z, Lichtner P, Kurian MA, Wiethoff S, Houlden H, Havránková P, Winkelmann J, Zech M, Skorvanek M. Ostrozovicova M, et al. Among authors: houlden h. Mov Disord. 2021 Aug;36(8):1984-1985. doi: 10.1002/mds.28647. Epub 2021 May 17. Mov Disord. 2021. PMID: 33998058 No abstract available.
Correction to: DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.
Chaudhry A, Athanasiou-Fragkouli A, Garcia-Moreno H, Abadias SP, Greenfield J, Shiloh-Malawsky Y, Giunti P, Houlden H. Chaudhry A, et al. Among authors: houlden h. J Neurol. 2021 Aug;268(8):3042. doi: 10.1007/s00415-021-10644-0. J Neurol. 2021. PMID: 34152486 Free PMC article. No abstract available.
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R. Skorvanek M, et al. Among authors: houlden h. Parkinsonism Relat Disord. 2022 Jan;94:54-61. doi: 10.1016/j.parkreldis.2021.11.030. Epub 2021 Dec 2. Parkinsonism Relat Disord. 2022. PMID: 34890876
944 results