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Clinico-genetic findings in 509 frontotemporal dementia patients.
Wagner M, Lorenz G, Volk AE, Brunet T, Edbauer D, Berutti R, Zhao C, Anderl-Straub S, Bertram L, Danek A, Deschauer M, Dill V, Fassbender K, Fliessbach K, Götze KS, Jahn H, Kornhuber J, Landwehrmeyer B, Lauer M, Obrig H, Prudlo J, Schneider A, Schroeter ML, Uttner I, Vukovich R, Wiltfang J, Winkler AS, Zhou Q, Ludolph AC; German FTLD consortium; Oexle K, Otto M, Diehl-Schmid J, Winkelmann J. Wagner M, et al. Among authors: edbauer d. Mol Psychiatry. 2021 Oct;26(10):5824-5832. doi: 10.1038/s41380-021-01271-2. Epub 2021 Sep 24. Mol Psychiatry. 2021. PMID: 34561610 Free PMC article.
Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease.
Roeber S, Müller-Sarnowski F, Kress J, Edbauer D, Kuhlmann T, Tüttelmann F, Schindler C, Winter P, Arzberger T, Müller U, Danek A, Kretzschmar HA. Roeber S, et al. Among authors: edbauer d. J Neural Transm (Vienna). 2015 Dec;122(12):1715-9. doi: 10.1007/s00702-015-1450-0. Epub 2015 Sep 8. J Neural Transm (Vienna). 2015. PMID: 26350633
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J, Ivanoiu A, Deryck O, Edbauer D, Zhang M, Heeman B, Bäumer V, Van den Broeck M, Mattheijssens M, Peeters K, Rogaeva E, De Jonghe P, Cras P, Martin JJ, de Deyn PP, Cruts M, Van Broeckhoven C. Gijselinck I, et al. Among authors: edbauer d. Mol Psychiatry. 2016 Aug;21(8):1112-24. doi: 10.1038/mp.2015.159. Epub 2015 Oct 20. Mol Psychiatry. 2016. PMID: 26481318 Free PMC article.
Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition.
Mori K, Nihei Y, Arzberger T, Zhou Q, Mackenzie IR, Hermann A, Hanisch F; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance; Kamp F, Nuscher B, Orozco D, Edbauer D, Haass C. Mori K, et al. Among authors: edbauer d. EMBO Rep. 2016 Sep;17(9):1314-25. doi: 10.15252/embr.201541724. Epub 2016 Jul 26. EMBO Rep. 2016. PMID: 27461252 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: edbauer d. 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.
Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins.
Zhou Q, Lehmer C, Michaelsen M, Mori K, Alterauge D, Baumjohann D, Schludi MH, Greiling J, Farny D, Flatley A, Feederle R, May S, Schreiber F, Arzberger T, Kuhm C, Klopstock T, Hermann A, Haass C, Edbauer D. Zhou Q, et al. Among authors: edbauer d. EMBO Mol Med. 2017 May;9(5):687-702. doi: 10.15252/emmm.201607054. EMBO Mol Med. 2017. PMID: 28351931 Free PMC article.
Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.
Lehmer C, Oeckl P, Weishaupt JH, Volk AE, Diehl-Schmid J, Schroeter ML, Lauer M, Kornhuber J, Levin J, Fassbender K, Landwehrmeyer B; German Consortium for Frontotemporal Lobar Degeneration; Schludi MH, Arzberger T, Kremmer E, Flatley A, Feederle R, Steinacker P, Weydt P, Ludolph AC, Edbauer D, Otto M. Lehmer C, et al. Among authors: edbauer d. EMBO Mol Med. 2017 Jul;9(7):859-868. doi: 10.15252/emmm.201607486. EMBO Mol Med. 2017. PMID: 28408402 Free PMC article.
97 results