Search results
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2017
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression
Hollstein, R., Reiz, B., Kötter, L., Richter, A., Schaake, S., Lohmann, K. & Kaiser, F. J., 01.08.2017, In: Human Molecular Genetics. 26, 15, p. 2975-2983 9 p.Research output: Journal Articles › Journal articles › Research › peer-review
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In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein
Richter, A., Hollstein, R., Hebert, E., Vulinovic, F., Eckhold, J., Osmanovic, A., Depping, R., Kaiser, F. J. & Lohmann, K., 01.05.2017, In: Journal of Molecular Neuroscience. 62, 1, p. 11-16 6 p.Research output: Journal Articles › Journal articles › Research › peer-review
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2015
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation
Krause, P., Brüggemann, N., Völzmann, S., Horn, A., Kupsch, A., Schneider, G. H., Lohmann, K. & Kühn, A., 01.12.2015, In: Journal of Neurology. 262, 12, p. 2739-2744 6 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia
Brüggemann, N., Kühn, A., Schneider, S. A., Kamm, C., Wolters, A., Krause, P., Moro, E., Steigerwald, F., Wittstock, M., Tronnier, V., Lozano, A. M., Hamani, C., Poon, Y. Y., Zittel, S., Wächter, T., Deuschl, G., Krüger, R., Kupsch, A., Münchau, A. & Lohmann, K. & 2 others, , 01.01.2015, In: Neurology. 84, 9, p. 895-903 9 p.Research output: Journal Articles › Journal articles › Research › peer-review
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2014
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression
Erogullari, A., Hollstein, R., Seibler, P., Braunholz, D., Koschmidder, E., Depping, R., Eckhold, J., Lohnau, T., Gillessen-Kaesbach, G., Grünewald, A., Rakovic, A., Lohmann, K. & Kaiser, F. J., 01.08.2014, In: Biochimica et Biophysica Acta - Gene Regulatory Mechanisms. 1839, 11, p. 1196-1204 9 p.Research output: Journal Articles › Journal articles › Research › peer-review
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2012
Identification and functional analysis of novel THAP1 mutations
Lohmann, K., Uflacker, N., Erogullari, A., Lohnau, T., Winkler, S., Dendorfer, A., Schneider, S. A., Osmanovic, A., Svetel, M., Ferbert, A., Zittel, S., Kühn, A. A., Schmidt, A., Altenmüller, E., Münchau, A., Kamm, C., Wittstock, M., Kupsch, A., Moro, E. & Volkmann, J. & 4 others, , 01.02.2012, In: European Journal of Human Genetics. 20, 2, p. 171-175 5 p.Research output: Journal Articles › Journal articles › Research › peer-review
48 Link opens in a new tab Citations (Scopus)