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Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. Doss S, et al. Among authors: seibler p. J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8. J Neurol. 2014. PMID: 24202787
Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.
Moro E, Volkmann J, König IR, Winkler S, Hiller A, Hassin-Baer S, Herzog J, Schnitzler A, Lohmann K, Pinsker MO, Voges J, Djarmatic A, Seibler P, Lozano AM, Rogaeva E, Lang AE, Deuschl G, Klein C. Moro E, et al. Among authors: seibler p. Neurology. 2008 Apr 1;70(14):1186-91. doi: 10.1212/01.wnl.0000307748.11216.03. Neurology. 2008. PMID: 18378882
Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons.
Rakovic A, Shurkewitsch K, Seibler P, Grünewald A, Zanon A, Hagenah J, Krainc D, Klein C. Rakovic A, et al. Among authors: seibler p. J Biol Chem. 2013 Jan 25;288(4):2223-37. doi: 10.1074/jbc.M112.391680. Epub 2012 Dec 4. J Biol Chem. 2013. PMID: 23212910 Free PMC article.
65 results