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Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J. Lüth T, et al. Among authors: klein c. Genes (Basel). 2022 Jan 11;13(1):126. doi: 10.3390/genes13010126. Genes (Basel). 2022. PMID: 35052466 Free PMC article.
Genetics of primary torsion dystonia.
Brüggemann N, Klein C. Brüggemann N, et al. Among authors: klein c. Curr Neurol Neurosci Rep. 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. Curr Neurol Neurosci Rep. 2010. PMID: 20425035 Review.
Substantia nigra hyperechogenicity with LRRK2 G2019S mutations.
Brüggemann N, Hagenah J, Stanley K, Klein C, Wang C, Raymond D, Ozelius L, Bressman S, Saunders-Pullman R. Brüggemann N, et al. Among authors: klein c. Mov Disord. 2011 Apr;26(5):885-8. doi: 10.1002/mds.23644. Epub 2011 Feb 10. Mov Disord. 2011. PMID: 21312285 Free PMC article.
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
Schneider SA, Ramirez A, Shafiee K, Kaiser FJ, Erogullari A, Brüggemann N, Winkler S, Bahman I, Osmanovic A, Shafa MA, Bhatia KP, Najmabadi H, Klein C, Lohmann K. Schneider SA, et al. Among authors: klein c. Mov Disord. 2011 Apr;26(5):858-61. doi: 10.1002/mds.23561. Epub 2011 Mar 21. Mov Disord. 2011. PMID: 21425335
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: klein c. 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.
3,909 results