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Mutations in GNAL: a novel cause of craniocervical dystonia.
Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A. Kumar KR, et al. Among authors: ferbert a. JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677. JAMA Neurol. 2014. PMID: 24535567 Free PMC article.
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. Among authors: ferbert a. 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.
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: ferbert 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: ferbert a. Hum Mutat. 2014 Sep;35(9):1114-22. doi: 10.1002/humu.22604. Epub 2014 Jul 17. Hum Mutat. 2014. PMID: 24931141
Role of ANO3 mutations in dystonia: A large-scale mutational screening study.
Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K. Olschewski L, et al. Among authors: ferbert a. Parkinsonism Relat Disord. 2019 May;62:196-200. doi: 10.1016/j.parkreldis.2018.12.030. Epub 2019 Jan 2. Parkinsonism Relat Disord. 2019. PMID: 30712998
158 results