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A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H. Salpietro V, et al. Among authors: klein c. Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2. Mov Disord. 2018. PMID: 29392776 Free PMC article.
Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease.
Hedrich K, Winkler S, Hagenah J, Kabakci K, Kasten M, Schwinger E, Volkmann J, Pramstaller PP, Kostic V, Vieregge P, Klein C. Hedrich K, et al. Among authors: klein c. Mov Disord. 2006 Sep;21(9):1506-10. doi: 10.1002/mds.20990. Mov Disord. 2006. PMID: 16758483
ATP13A2 variants in early-onset Parkinson's disease patients and controls.
Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C. Djarmati A, et al. Among authors: klein c. Mov Disord. 2009 Oct 30;24(14):2104-11. doi: 10.1002/mds.22728. Mov Disord. 2009. PMID: 19705361
Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.
Weissbach A, Djarmati A, Klein C, Dragasević N, Zühlke C, Raković A, Guzvić M, Butz E, Tönnies H, Siebert R, Petrović I, Svetel M, Kostić VS, Lohmann K. Weissbach A, et al. Among authors: klein c. Mov Disord. 2010 Aug 15;25(11):1577-82. doi: 10.1002/mds.22857. Mov Disord. 2010. PMID: 20589871
3,914 results