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Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
Zech M, Nübling G, Castrop F, Jochim A, Schulte EC, Mollenhauer B, Lichtner P, Peters A, Gieger C, Marquardt T, Vanier MT, Latour P, Klünemann H, Trenkwalder C, Diehl-Schmid J, Perneczky R, Meitinger T, Oexle K, Haslinger B, Lorenzl S, Winkelmann J. Zech M, et al. Among authors: winkelmann j. PLoS One. 2013 Dec 30;8(12):e82879. doi: 10.1371/journal.pone.0082879. eCollection 2013. PLoS One. 2013. PMID: 24386122 Free PMC article.
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J. Zech M, et al. Among authors: winkelmann j. Am J Hum Genet. 2015 Jun 4;96(6):883-93. doi: 10.1016/j.ajhg.2015.04.010. Epub 2015 May 21. Am J Hum Genet. 2015. PMID: 26004199 Free PMC article.
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
Zech M, Boesch S, Jochim A, Graf S, Lichtner P, Peters A, Gieger C, Mueller J, Poewe W, Haslinger B, Winkelmann J. Zech M, et al. Among authors: winkelmann j. Parkinsonism Relat Disord. 2015 Oct;21(10):1278-81. doi: 10.1016/j.parkreldis.2015.08.017. Epub 2015 Aug 20. Parkinsonism Relat Disord. 2015. PMID: 26318963
Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.
Zech M, Jochim A, Boesch S, Weber S, Meindl T, Peters A, Gieger C, Mueller J, Messner M, Ceballos-Baumann A, Poewe W, Haslinger B, Winkelmann J. Zech M, et al. Among authors: winkelmann j. Parkinsonism Relat Disord. 2016 Oct;31:119-123. doi: 10.1016/j.parkreldis.2016.07.013. Epub 2016 Jul 25. Parkinsonism Relat Disord. 2016. PMID: 27477622
403 results