Seibler P - Search Results

1

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.

Seibler P, Djarmati A, Langpap B, Hagenah J, Schmidt A, Brüggemann N, Siebner H, Jabusch HC, Altenmüller E, Münchau A, Lohmann K, Klein C. Seibler P, et al. Lancet Neurol. 2008 May;7(5):380-1. doi: 10.1016/S1474-4422(08)70075-9. Lancet Neurol. 2008. PMID: 18420150 No abstract available.

2

Patient-derived cells - an irreplaceable tool for research of reduced penetrance in movement disorders.

Seibler P, Rakovic A. Seibler P, et al. Med Genet. 2022 Aug 12;34(2):125-130. doi: 10.1515/medgen-2022-2133. eCollection 2022 Jun. Med Genet. 2022. PMID: 38835901 Free PMC article.

3

Neuron-Derived Misfolded α-Synuclein in Blood: A Potential Biomarker for Parkinson's Disease?

Streubel-Gallasch L, Seibler P. Streubel-Gallasch L, et al. Among authors: seibler p. Mov Disord. 2023 Mar;38(3):385. doi: 10.1002/mds.29331. Epub 2023 Jan 31. Mov Disord. 2023. PMID: 36718670 No abstract available.

4

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

5

Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.

Rakovic A, Grünewald A, Seibler P, Ramirez A, Kock N, Orolicki S, Lohmann K, Klein C. Rakovic A, et al. Among authors: seibler p. Hum Mol Genet. 2010 Aug 15;19(16):3124-37. doi: 10.1093/hmg/ddq215. Epub 2010 May 27. Hum Mol Genet. 2010. PMID: 20508036

6

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

Grünewald A, Arns B, Seibler P, Rakovic A, Münchau A, Ramirez A, Sue CM, Klein C. Grünewald A, et al. Among authors: seibler p. Neurobiol Aging. 2012 Aug;33(8):1843.e1-7. doi: 10.1016/j.neurobiolaging.2011.12.035. Epub 2012 Jan 31. Neurobiol Aging. 2012. PMID: 22296644

7

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.

Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K. Arif B, et al. Among authors: seibler p. JAMA Neurol. 2013 Jun;70(6):783-7. doi: 10.1001/jamaneurol.2013.1174. JAMA Neurol. 2013. PMID: 23700088

8

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

9

Stimulus-triggered acquisition of pluripotency: revolutionizing human disease modeling and regenerative therapies?

Seibler P, Klein C. Seibler P, et al. Mov Disord. 2014 Apr;29(4):451. doi: 10.1002/mds.25879. Mov Disord. 2014. PMID: 24700468 No abstract available.

10

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. Among authors: seibler p. Hum Mutat. 2014 Sep;35(9):1114-22. doi: 10.1002/humu.22604. Epub 2014 Jul 17. Hum Mutat. 2014. PMID: 24931141

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