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A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
Buch S, Schafmayer C, Völzke H, Becker C, Franke A, von Eller-Eberstein H, Kluck C, Bässmann I, Brosch M, Lammert F, Miquel JF, Nervi F, Wittig M, Rosskopf D, Timm B, Höll C, Seeger M, ElSharawy A, Lu T, Egberts J, Fändrich F, Fölsch UR, Krawczak M, Schreiber S, Nürnberg P, Tepel J, Hampe J. Buch S, et al. Among authors: kluck c. Nat Genet. 2007 Aug;39(8):995-9. doi: 10.1038/ng2101. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632509
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. de Kovel CG, et al. Among authors: kluck c. Brain. 2010 Jan;133(Pt 1):23-32. doi: 10.1093/brain/awp262. Epub 2009 Oct 20. Brain. 2010. PMID: 19843651 Free PMC article.
Glycine receptor autoantibody binding to the extracellular domain is independent from receptor glycosylation.
Rauschenberger V, Piro I, Kasaragod VB, Hörlin V, Eckes AL, Kluck CJ, Schindelin H, Meinck HM, Wickel J, Geis C, Tüzün E, Doppler K, Sommer C, Villmann C. Rauschenberger V, et al. Among authors: kluck cj. Front Mol Neurosci. 2023 Feb 13;16:1089101. doi: 10.3389/fnmol.2023.1089101. eCollection 2023. Front Mol Neurosci. 2023. PMID: 36860666 Free PMC article.
Glycine Receptor Autoantibodies Impair Receptor Function and Induce Motor Dysfunction.
Rauschenberger V, von Wardenburg N, Schaefer N, Ogino K, Hirata H, Lillesaar C, Kluck CJ, Meinck HM, Borrmann M, Weishaupt A, Doppler K, Wickel J, Geis C, Sommer C, Villmann C. Rauschenberger V, et al. Among authors: kluck cj. Ann Neurol. 2020 Sep;88(3):544-561. doi: 10.1002/ana.25832. Epub 2020 Jul 20. Ann Neurol. 2020. PMID: 32588476
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.
Schaefer N, Kluck CJ, Price KL, Meiselbach H, Vornberger N, Schwarzinger S, Hartmann S, Langlhofer G, Schulz S, Schlegel N, Brockmann K, Lynch B, Becker CM, Lummis SC, Villmann C. Schaefer N, et al. Among authors: kluck cj. J Neurosci. 2015 Jan 7;35(1):422-37. doi: 10.1523/JNEUROSCI.1509-14.2015. J Neurosci. 2015. PMID: 25568133 Free PMC article.
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