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Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Among authors: zech m. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
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. PLoS One. 2013 Dec 30;8(12):e82879. doi: 10.1371/journal.pone.0082879. eCollection 2013. PLoS One. 2013. PMID: 24386122 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. 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
189 results