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Page 1
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Hebert E, Borngräber F, Schmidt A, Rakovic A, Brænne I, Weissbach A, Hampf J, Vollstedt EJ, Größer L, Schaake S, Müller M, Manzoor H, Jabusch HC, Alvarez-Fischer D, Kasten M, Kostic VS, Gasser T, Zeuner KE, Kim HJ, Jeon B, Bauer P, Altenmüller E, Klein C, Lohmann K. Hebert E, et al. Among authors: kostic vs. Genes (Basel). 2017 Oct 18;8(10):276. doi: 10.3390/genes8100276. Genes (Basel). 2017. PMID: 29057844 Free PMC article. Review.
Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre P, Graf J, Groen JL, Grünewald A, Hagenah J, Hemmelmann C, Jabusch HC, Kaji R, Kasten M, Kawakami H, Kostic VS, Liguori M, Mir P, Münchau A, Ricchiuti F, Schreiber S, Siegesmund K, Svetel M, Tijssen MA, Valente EM, Westenberger A, Zeuner KE, Zittel S, Altenmüller E, Ziegler A, Klein C. Lohmann K, et al. Among authors: kostic vs. Mov Disord. 2014 Jun;29(7):921-7. doi: 10.1002/mds.25791. Epub 2013 Dec 26. Mov Disord. 2014. PMID: 24375517
The role of mutations in COL6A3 in isolated dystonia.
Lohmann K, Schlicht F, Svetel M, Hinrichs F, Zittel S, Graf J, Lohnau T, Schmidt A, Mir P, Krause P, Lang AE, Jabusch HC, Wolters A, Kamm C, Zeuner KE, Altenmüller E, Naz S, Chung SJ, Kostic VS, Münchau A, Kühn AA, Brüggemann N, Klein C. Lohmann K, et al. Among authors: kostic vs. J Neurol. 2016 Apr;263(4):730-4. doi: 10.1007/s00415-016-8046-y. Epub 2016 Feb 12. J Neurol. 2016. PMID: 26872670
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. 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.
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: kostic vs. 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
Identification and functional analysis of novel THAP1 mutations.
Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn AA, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N. Lohmann K, et al. Eur J Hum Genet. 2012 Feb;20(2):171-5. doi: 10.1038/ejhg.2011.159. Epub 2011 Aug 17. Eur J Hum Genet. 2012. PMID: 21847143 Free PMC article.
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: kostic vs. 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: kostic vs. Mov Disord. 2010 Aug 15;25(11):1577-82. doi: 10.1002/mds.22857. Mov Disord. 2010. PMID: 20589871
Frequency of the D620N mutation in VPS35 in Parkinson disease.
Kumar KR, Weissbach A, Heldmann M, Kasten M, Tunc S, Sue CM, Svetel M, Kostić VS, Segura-Aguilar J, Ramirez A, Simon DK, Vieregge P, Münte TF, Hagenah J, Klein C, Lohmann K. Kumar KR, et al. Among authors: kostic vs. Arch Neurol. 2012 Oct;69(10):1360-4. doi: 10.1001/archneurol.2011.3367. Arch Neurol. 2012. PMID: 22801713
431 results