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TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons.
Schwenk BM, Hartmann H, Serdaroglu A, Schludi MH, Hornburg D, Meissner F, Orozco D, Colombo A, Tahirovic S, Michaelsen M, Schreiber F, Haupt S, Peitz M, Brüstle O, Küpper C, Klopstock T, Otto M, Ludolph AC, Arzberger T, Kuhn PH, Edbauer D. Schwenk BM, et al. Among authors: klopstock t. EMBO J. 2016 Nov 2;35(21):2350-2370. doi: 10.15252/embj.201694221. Epub 2016 Sep 12. EMBO J. 2016. PMID: 27621269 Free PMC article.
Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
Schludi MH, May S, Grässer FA, Rentzsch K, Kremmer E, Küpper C, Klopstock T; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance; Arzberger T, Edbauer D. Schludi MH, et al. Among authors: klopstock t. Acta Neuropathol. 2015 Oct;130(4):537-55. doi: 10.1007/s00401-015-1450-z. Epub 2015 Jun 18. Acta Neuropathol. 2015. PMID: 26085200 Free PMC article.
Erratum to: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
Schludi MH, May S, Grässer FA, Rentzsch K, Kremmer E, Küpper C, Klopstock T; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance; Arzberger T, Edbauer D. Schludi MH, et al. Among authors: klopstock t. Acta Neuropathol. 2015 Oct;130(4):557-8. doi: 10.1007/s00401-015-1464-6. Acta Neuropathol. 2015. PMID: 26290407 Free PMC article.
Life span extension by targeting a link between metabolism and histone acetylation in Drosophila.
Peleg S, Feller C, Forne I, Schiller E, Sévin DC, Schauer T, Regnard C, Straub T, Prestel M, Klima C, Schmitt Nogueira M, Becker L, Klopstock T, Sauer U, Becker PB, Imhof A, Ladurner AG. Peleg S, et al. Among authors: klopstock t. EMBO Rep. 2016 Mar;17(3):455-69. doi: 10.15252/embr.201541132. Epub 2016 Jan 18. EMBO Rep. 2016. PMID: 26781291 Free PMC article.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Among authors: klopstock t. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43.
Stribl C, Samara A, Trümbach D, Peis R, Neumann M, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Rathkolb B, Wolf E, Beckers J, Horsch M, Neff F, Kremmer E, Koob S, Reichert AS, Hans W, Rozman J, Klingenspor M, Aichler M, Walch AK, Becker L, Klopstock T, Glasl L, Hölter SM, Wurst W, Floss T. Stribl C, et al. Among authors: klopstock t. J Biol Chem. 2014 Apr 11;289(15):10769-10784. doi: 10.1074/jbc.M113.515940. Epub 2014 Feb 10. J Biol Chem. 2014. PMID: 24515116 Free PMC article.
Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.
Blanco S, Dietmann S, Flores JV, Hussain S, Kutter C, Humphreys P, Lukk M, Lombard P, Treps L, Popis M, Kellner S, Hölter SM, Garrett L, Wurst W, Becker L, Klopstock T, Fuchs H, Gailus-Durner V, Hrabĕ de Angelis M, Káradóttir RT, Helm M, Ule J, Gleeson JG, Odom DT, Frye M. Blanco S, et al. Among authors: klopstock t. EMBO J. 2014 Sep 17;33(18):2020-39. doi: 10.15252/embj.201489282. Epub 2014 Jul 25. EMBO J. 2014. PMID: 25063673 Free PMC article.
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB. Kremer LS, et al. Among authors: klopstock t. Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805782 Free PMC article.
Phenotyping of the thoracic-onset variant of amyotrophic lateral sclerosis.
Kandler K, Witzel S, Eder K, Rothenbacher D, Nagel G, Peter RS, Schuster J, Dorst J, Rosenbohm A, Ludolph AC; ALS Registry Study Group. Kandler K, et al. J Neurol Neurosurg Psychiatry. 2022 May;93(5):563-565. doi: 10.1136/jnnp-2021-326712. Epub 2021 Oct 19. J Neurol Neurosurg Psychiatry. 2022. PMID: 34667101 No abstract available.
366 results