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Items: 30

1.

Discordance in monozygotic Parkinson's disease twins - continuum or dichotomy?

Balck A, Borsche M, Kasten M, Lohmann K, Seibler P, Brüggemann N, Klein C.

Ann Clin Transl Neurol. 2019 May 2;6(6):1102-1105. doi: 10.1002/acn3.775. eCollection 2019 Jun.

2.

Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers.

Ouzren N, Delcambre S, Ghelfi J, Seibler P, Farrer MJ, König IR, Aasly JO, Trinh J, Klein C, Grünewald A.

Ann Neurol. 2019 Aug;86(2):324-326. doi: 10.1002/ana.25510. Epub 2019 Jun 12. No abstract available.

PMID:
31148195
3.

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.

Baumann H, Jahn M, Muenchau A, Trilck-Winkler M, Lohmann K, Seibler P.

Stem Cell Res. 2018 Dec;33:60-64. doi: 10.1016/j.scr.2018.09.018. Epub 2018 Oct 1.

4.

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.

Seibler P, Burbulla LF, Dulovic M, Zittel S, Heine J, Schmidt T, Rudolph F, Westenberger A, Rakovic A, Münchau A, Krainc D, Klein C.

Brain. 2018 Oct 1;141(10):3052-3064. doi: 10.1093/brain/awy230.

PMID:
30169597
5.

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.

Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, Rolfs A, Seibler P, Westenberger A, König I, Klein C.

Mov Disord. 2018 Jul;33(7):1108-1118. doi: 10.1002/mds.27441.

PMID:
30153385
6.

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A.

Hum Mutat. 2018 Dec;39(12):1901-1915. doi: 10.1002/humu.23602. Epub 2018 Sep 7.

PMID:
30079973
7.

Differentiation of human iPSCs into VSMCs and generation of VSMC-derived calcifying vascular cells.

Trillhaase A, Haferkamp U, Rangnau A, Märtens M, Schmidt B, Trilck M, Seibler P, Aherrahrou R, Erdmann J, Aherrahrou Z.

Stem Cell Res. 2018 Aug;31:62-70. doi: 10.1016/j.scr.2018.07.008. Epub 2018 Jul 17.

8.

Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients.

Capetian P, Stanslowsky N, Bernhardi E, Grütz K, Domingo A, Brüggemann N, Naujock M, Seibler P, Klein C, Wegner F.

Exp Neurol. 2018 Oct;308:47-58. doi: 10.1016/j.expneurol.2018.06.012. Epub 2018 Jun 23.

PMID:
29944858
9.

ER Lipid Defects in Neuropeptidergic Neurons Impair Sleep Patterns in Parkinson's Disease.

Valadas JS, Esposito G, Vandekerkhove D, Miskiewicz K, Deaulmerie L, Raitano S, Seibler P, Klein C, Verstreken P.

Neuron. 2018 Jun 27;98(6):1155-1169.e6. doi: 10.1016/j.neuron.2018.05.022. Epub 2018 Jun 7.

10.

Adherent vs. Free-Floating Neural Induction by Dual SMAD Inhibition for Neurosphere Cultures Derived from Human Induced Pluripotent Stem Cells.

Pauly MG, Krajka V, Stengel F, Seibler P, Klein C, Capetian P.

Front Cell Dev Biol. 2018 Feb 6;6:3. doi: 10.3389/fcell.2018.00003. eCollection 2018.

11.

Dopamine oxidation mediates a time-dependent pathological cascade in Parkinson's disease.

Kulikovskaja L, Seibler P.

Mov Disord. 2018 Feb;33(2):250. doi: 10.1002/mds.27262. Epub 2017 Nov 23. No abstract available.

PMID:
29168581
12.

SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.

Zanon A, Kalvakuri S, Rakovic A, Foco L, Guida M, Schwienbacher C, Serafin A, Rudolph F, Trilck M, Grünewald A, Stanslowsky N, Wegner F, Giorgio V, Lavdas AA, Bodmer R, Pramstaller PP, Klein C, Hicks AA, Pichler I, Seibler P.

Hum Mol Genet. 2017 Jul 1;26(13):2412-2425. doi: 10.1093/hmg/ddx132. Erratum in: Hum Mol Genet. 2019 Apr 1;28(7):1225.

13.

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

Grütz K, Seibler P, Weissbach A, Lohmann K, Carlisle FA, Blake DJ, Westenberger A, Klein C, Grünewald A.

Sci Rep. 2017 Feb 3;7:41156. doi: 10.1038/srep41156.

14.

Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency.

Vos M, Geens A, Böhm C, Deaulmerie L, Swerts J, Rossi M, Craessaerts K, Leites EP, Seibler P, Rakovic A, Lohnau T, De Strooper B, Fendt SM, Morais VA, Klein C, Verstreken P.

J Cell Biol. 2017 Mar 6;216(3):695-708. doi: 10.1083/jcb.201511044. Epub 2017 Jan 30.

15.

Plasmid-Based Generation of Induced Neural Stem Cells from Adult Human Fibroblasts.

Capetian P, Azmitia L, Pauly MG, Krajka V, Stengel F, Bernhardi EM, Klett M, Meier B, Seibler P, Stanslowsky N, Moser A, Knopp A, Gillessen-Kaesbach G, Nikkhah G, Wegner F, Döbrössy M, Klein C.

Front Cell Neurosci. 2016 Oct 24;10:245. eCollection 2016.

16.

iPS models of Parkin and PINK1.

Rakovic A, Seibler P, Klein C.

Biochem Soc Trans. 2015 Apr;43(2):302-7. doi: 10.1042/BST20150010. Review.

PMID:
25849934
17.

Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N.

Munsie LN, Milnerwood AJ, Seibler P, Beccano-Kelly DA, Tatarnikov I, Khinda J, Volta M, Kadgien C, Cao LP, Tapia L, Klein C, Farrer MJ.

Hum Mol Genet. 2015 Mar 15;24(6):1691-703. doi: 10.1093/hmg/ddu582. Epub 2014 Nov 21.

PMID:
25416282
18.

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.

Erogullari A, Hollstein R, Seibler P, Braunholz D, Koschmidder E, Depping R, Eckhold J, Lohnau T, Gillessen-Kaesbach G, Grünewald A, Rakovic A, Lohmann K, Kaiser FJ.

Biochim Biophys Acta. 2014 Nov;1839(11):1196-204. doi: 10.1016/j.bbagrm.2014.07.019. Epub 2014 Aug 1.

PMID:
25088175
19.

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.

Hum Mutat. 2014 Sep;35(9):1114-22. doi: 10.1002/humu.22604. Epub 2014 Jul 17.

PMID:
24931141
20.

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

Seibler P, Klein C.

Mov Disord. 2014 Apr;29(4):451. doi: 10.1002/mds.25879. No abstract available.

PMID:
24700468
21.

PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

Morais VA, Haddad D, Craessaerts K, De Bock PJ, Swerts J, Vilain S, Aerts L, Overbergh L, Grünewald A, Seibler P, Klein C, Gevaert K, Verstreken P, De Strooper B.

Science. 2014 Apr 11;344(6180):203-7. doi: 10.1126/science.1249161. Epub 2014 Mar 20.

22.

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.

J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8.

PMID:
24202787
23.

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.

Trilck M, Hübner R, Seibler P, Klein C, Rolfs A, Frech MJ.

Orphanet J Rare Dis. 2013 Sep 18;8:144. doi: 10.1186/1750-1172-8-144.

24.

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.

JAMA Neurol. 2013 Jun;70(6):783-7. doi: 10.1001/jamaneurol.2013.1174.

PMID:
23700088
25.

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.

J Biol Chem. 2013 Jan 25;288(4):2223-37. doi: 10.1074/jbc.M112.391680. Epub 2012 Dec 4.

26.

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.

Neurobiol Aging. 2012 Aug;33(8):1843.e1-7. doi: 10.1016/j.neurobiolaging.2011.12.035. Epub 2012 Jan 31.

PMID:
22296644
27.

Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells.

Seibler P, Graziotto J, Jeong H, Simunovic F, Klein C, Krainc D.

J Neurosci. 2011 Apr 20;31(16):5970-6. doi: 10.1523/JNEUROSCI.4441-10.2011.

28.

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.

Hum Mol Genet. 2010 Aug 15;19(16):3124-37. doi: 10.1093/hmg/ddq215. Epub 2010 May 27.

PMID:
20508036
29.

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.

Lancet Neurol. 2008 May;7(5):380-1. doi: 10.1016/S1474-4422(08)70075-9. No abstract available.

PMID:
18420150
30.

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.

Neurology. 2008 Apr 1;70(14):1186-91. doi: 10.1212/01.wnl.0000307748.11216.03.

PMID:
18378882

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