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Page 1
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: kupper c. 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.
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: kupper c. 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: kupper c. Acta Neuropathol. 2015 Oct;130(4):557-8. doi: 10.1007/s00401-015-1464-6. Acta Neuropathol. 2015. PMID: 26290407 Free PMC article.
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: kupper c. 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.
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Küpper C, Neuhofer C, Kálmán B, Dušek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E. Klopstock T, et al. Among authors: kupper c. Lancet Neurol. 2019 Jul;18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5. Lancet Neurol. 2019. PMID: 31202468 Clinical Trial.
Addressing a real-life problem: treatment with intravenous thrombolysis and mechanical thrombectomy in acute stroke patients with an extended time window beyond 4.5 h based on computed tomography perfusion imaging.
Feil K, Reidler P, Kunz WG, Küpper C, Heinrich J, Laub C, Müller K, Vöglein J, Liebig T, Dieterich M, Kellert L. Feil K, et al. Among authors: kupper c. Eur J Neurol. 2020 Jan;27(1):168-174. doi: 10.1111/ene.14051. Epub 2019 Aug 21. Eur J Neurol. 2020. PMID: 31349393
Inter-hospital transfer for mechanical thrombectomy within the supraregional stroke network NEVAS.
Feil K, Rémi J, Küpper C, Herzberg M, Dorn F, Kunz WG, Reidler P, Levin J, Hüttemann K, Tiedt S, Heidger W, Müller K, Thunstedt DC, Dabitz R, Müller R, Pfefferkorn T, Hamann GF, Liebig T, Dieterich M, Kellert L. Feil K, et al. Among authors: kupper c. J Neurol. 2021 Feb;268(2):623-631. doi: 10.1007/s00415-020-10165-2. Epub 2020 Sep 5. J Neurol. 2021. PMID: 32889616 Free PMC article.
135 results