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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. Genes (Basel). 2017 Oct 18;8(10):276. doi: 10.3390/genes8100276. Genes (Basel). 2017. PMID: 29057844 Free PMC article. Review.
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. Hum Mutat. 2014 Sep;35(9):1114-22. doi: 10.1002/humu.22604. Epub 2014 Jul 17. Hum Mutat. 2014. PMID: 24931141
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.
Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.
Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, Westenberger A. Balck A, et al. Among authors: alvarez fischer d. Mov Disord. 2021 Nov;36(11):2468-2480. doi: 10.1002/mds.28753. Epub 2021 Aug 25. Mov Disord. 2021. PMID: 34432325 Review.
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing.
Reyes CJ, Laabs BH, Schaake S, Lüth T, Ardicoglu R, Rakovic A, Grütz K, Alvarez-Fischer D, Jamora RD, Rosales RL, Weyers I, König IR, Brüggemann N, Klein C, Dobricic V, Westenberger A, Trinh J. Reyes CJ, et al. Among authors: alvarez fischer d. Neurol Genet. 2021 Jul 6;7(4):e608. doi: 10.1212/NXG.0000000000000608. eCollection 2021 Aug. Neurol Genet. 2021. PMID: 34250228 Free PMC article.
52 results