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Page 1
Truncating mutations in THAP1 define the nuclear localization signal.
Osmanovic A, Dendorfer A, Erogullari A, Uflacker N, Braunholz D, Rakovic A, Vierke G, Gil-Rodríguez C, Münchau A, Albrecht M, Brüggemann N, Gillessen-Kaesbach G, Klein C, Lohmann K, Kaiser FJ. Osmanovic A, et al. Among authors: rakovic a. Mov Disord. 2011 Jul;26(8):1565-7. doi: 10.1002/mds.23611. Epub 2011 Apr 14. Mov Disord. 2011. PMID: 21495072 No abstract available.
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Djarmati A, et al. Among authors: rakovic a. Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1. Lancet Neurol. 2009. PMID: 19345148
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: rakovic a. Mov Disord. 2010 Aug 15;25(11):1577-82. doi: 10.1002/mds.22857. Mov Disord. 2010. PMID: 20589871
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. Kaiser FJ, et al. Among authors: rakovic a. Ann Neurol. 2010 Oct;68(4):554-9. doi: 10.1002/ana.22157. Ann Neurol. 2010. PMID: 20976771
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C. Lohmann K, et al. Among authors: rakovic a. Ann Neurol. 2013 Apr;73(4):537-45. doi: 10.1002/ana.23829. Epub 2013 Apr 17. Ann Neurol. 2013. PMID: 23595291 Free PMC article.
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.
Vulinovic F, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, Weißbach A, Erogullari A, Kaiser FJ, Wiegers K, Ferbert A, Rolfs A, Klein C, Seibler P. Vulinovic F, et al. Among authors: rakovic a. Hum Mutat. 2014 Sep;35(9):1114-22. doi: 10.1002/humu.22604. Epub 2014 Jul 17. Hum Mutat. 2014. PMID: 24931141
53 results