@article{UBHD-69006802, author={Brenner, David and M{\"u}ller, Kathrin and Lattante, Serena and Yılmaz, R{\"u}stem and Knehr, Antje and Freischmidt, Axel and Ludolph, Albert C. and Andersen, Peter M. and Weishaupt, Jochen H.}, title={FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees}, year={2022}, pages={59-65}, language={eng}, issn={1364-6753}, volume={23}, note={Published online: 13 September 2021 ; Gesehen am 16.01.2023}, journal={Neurogenetics}, doi={10.1007/s10048-021-00671-4}, url={https://doi.org/10.1007/s10048-021-00671-4}, library={UB}, } @article{UBHD-68749387, author={Brenner, David and Yılmaz, R{\"u}stem and M{\"u}ller, Kathrin and Grehl, Torsten and Petri, Susanne and Meyer, Thomas and Großkreutz, Julian and Weydt, Patrick and Ruf, Wolfgang and Neuwirth, Christoph and Weber, Markus and Pinto, Susana and Claeys, Kristl G. and Schrank, Berthold and Jordan, Berit and Knehr, Antje and G{\"u}nther, Kornelia and H{\"u}bers, Annemarie and Zeller, Daniel and Kubisch, Christian and Jablonka, Sibylle and Sendtner, Michael and Klopstock, Thomas and de Carvalho, Mamede and Sperfeld, Anne and Borck, Guntram and Volk, Alexander E. and Dorst, Johannes and Weis, Joachim and Otto, Markus and Schuster, Joachim and Del Tredici, Kelly and Braak, Heiko and Danzer, Karin M. and Freischmidt, Axel and Meitinger, Thomas and Strom, Tim M. and Ludolph, Albert C. and Andersen, Peter M. and Weishaupt, Jochen H.}, title={Hot-spot KIF5A mutations cause familial ALS}, year={2018}, pages={688-697}, language={eng}, issn={1460-2156}, volume={141}, number={3 vom: M{\"a}rz}, note={Gesehen am 16.06.2021}, journal={Brain}, doi={10.1093/brain/awx370}, } @article{UBHD-68750140, author={Brenner, David and Rosenbohm, Angela and Yılmaz, R{\"u}stem and M{\"u}ller, Kathrin and Grehl, Torsten and Petri, Susanne and Meyer, Thomas and Großkreutz, Julian and Weydt, Patrick and Ruf, Wolfgang and Neuwirth, Christoph and Weber, Markus and Pinto, Susana and Claeys, Kristl G and Schrank, Berthold and Jordan, Berit and Knehr, Antje and G{\"u}nther, Kornelia and H{\"u}bers, Annemarie and Zeller, Daniel and Kubisch, Christian and Jablonka, Sibylle and Sendtner, Michael and Klopstock, Thomas and de Carvalho, Mamede and Sperfeld, Anne and Borck, Guntram and Volk, Alexander E. and Dorst, Johannes and Weis, Joachim and Otto, Markus and Schuster, Joachim and Del Tredici, Kelly and Braak, Heiko and Danzer, Karin M and Freischmidt, Axel and Meitinger, Thomas and Ludolph, Albert C. and Andersen, Peter M and Weishaupt, Jochen H.}, title={Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations}, subtitle={letter to the editor}, year={2019}, pages={e67}, language={eng}, issn={1460-2156}, volume={142}, number={12 vom: Dez.}, note={Gesehen am 17.06.2021}, journal={Brain}, doi={10.1093/brain/awz306}, } @article{UBHD-69292971, author={Brenner, David and Sieverding, Kirsten and Srinidhi, Jahnavi and Zellner, Susanne and Secker, Christopher and Yılmaz, R{\"u}stem and Dyckow, Julia and Amr, Shady and Ponomarenko, Anna and Tunaboylu, Esra and Douahem, Yasmin and Schlag, Joana S. and Rodríguez Martínez, Lucía and Kislinger, Georg and Niemann, Cornelia and Nalbach, Karsten and Ruf, Wolfgang P. and Uhl, Jonathan and Hollenbeck, Johanna and Schirmer, Lucas and Catanese, Alberto and Lobsiger, Christian S. and Danzer, Karin M. and Yilmazer-Hanke, Deniz and M{\"u}nch, Christian and Koch, Philipp and Freischmidt, Axel and Fetting, Martina and Behrends, Christian and Parlato, Rosanna and Weishaupt, Jochen H.}, title={A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice}, year={2024}, pages={1-20}, language={eng}, issn={1540-9538}, volume={221}, note={Zu dem Artikel gibt es Supplementary Material ; Gesehen am 21.01.2025}, journal={Journal of experimental medicine}, doi={10.1084/jem.20221190}, } @article{UBHD-69254693, author={Hebestreit, Sophie and Schwahn, Janine and Sandikci, Vesile and Maros, Máté E. and Valkadinov, Ivan and Yılmaz, R{\"u}stem and Eckrich, Lukas and Loghmani, Seyed Babak and Lesch, Hendrik and Conrad, Julian and Wenz, Holger and Ebert, Anne and Brenner, David and Weishaupt, Jochen H.}, title={PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity}, year={2023}, pages={209-213}, language={eng}, issn={1364-6753}, volume={24}, number={3}, note={Online ver{\"o}ffentlicht: 21. Juni 2023 ; Gesehen am 19.09.2024}, journal={Neurogenetics}, doi={10.1007/s10048-023-00723-x}, } @article{UBHD-69135125, author={Pant, Devesh C. and Parameswaran, Janani and Rao, Lu and Loss, Isabel and Chilukuri, Ganesh and Parlato, Rosanna and Shi, Liang and Glass, Jonathan D and Bassell, Gary J and Koch, Philipp and Yılmaz, R{\"u}stem and Weishaupt, Jochen H. and Gennerich, Arne and Jiang, Jie}, title={ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function}, year={2022}, pages={1-18}, language={eng}, issn={1469-3178}, volume={23}, note={Im Titel ist "Delta" bei DeltaExon27 mit einem griechischen Buchstaben geschrieben ; Gesehen am 30.10.2023}, journal={EMBO reports}, doi={10.15252/embr.202154234}, } @article{UBHD-68586073, author={Sancar, Cigdem and Ha, Nati and Yılmaz, R{\"u}stem and Tesorero, Rafael and Fischer, Tamás and Brunner, Michael and Sancar, Gencer}, title={Combinatorial control of light induced chromatin remodeling and gene activation in neurospora}, year={2015}, pages={26 S.}, language={eng}, issn={1553-7404}, volume={11(2015}, note={Gesehen am 10.06.2020}, journal={PLoS Genetics}, doi={10.1371/journal.pgen.1005105}, } @article{UBHD-69257301, author={Yılmaz, R{\"u}stem and Grehl, Torsten and Eckrich, Lukas and Marschalkowski, Ines and Weishaupt, Kanchi and Valkadinov, Ivan and Simic, Melita and Brenner, David and Andersen, Peter M. and Wolf, Joachim and Weishaupt, Jochen H.}, title={Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers}, year={2023}, pages={414-419}, language={eng}, issn={2167-9223}, volume={24}, number={5/6}, note={Gesehen am 30.09.2024}, journal={Amyotrophic lateral sclerosis & frontotemporal degeneration}, doi={10.1080/21678421.2023.2165946}, } @book{UBHD-68760288, author={Yılmaz, R{\"u}stem}, organization={Universit{\"a}t Ulm}, title={Genetic and functional characterization of blepharophimosis-mental retardation syndromes}, address={Ulm}, year={2016}, pages={viii, 135 Bl{\"a}tter}, language={eng}, school={Dissertation, Universit{\"a}t Ulm, 2017}, } @article{UBHD-68995303, author={Yılmaz, R{\"u}stem and Weishaupt, Kanchi and Valkadinov, Ivan and Knehr, Antje and Brenner, David and Weishaupt, Jochen H.}, title={Quadruple genetic variants in a sporadic ALS patient}, year={2022}, pages={1-4}, language={eng}, issn={2324-9269}, volume={10}, note={Gesehen am 09.12.2022}, journal={Molecular genetics & genomic medicine}, doi={10.1002/mgg3.1953}, url={https://doi.org/10.1002/mgg3.1953}, library={UB}, } @article{UBHD-68750153, author={Yılmaz, R{\"u}stem and M{\"u}ller, Kathrin and Brenner, David and Volk, Alexander E. and Borck, Guntram and Hermann, Andreas and Meitinger, Thomas and Strom, Tim M. and Danzer, Karin M. and Ludolph, Albert C. and Andersen, Peter M. and Weishaupt, Jochen H. and Weyen, Ute and Regensburger, Martin and Winkler, J{\"u}rgen and Linker, Ralf and Winner, Beate and Hagenacker, Tim and Koch, Jan Christoph and Lingor, Paul and G{\"o}ricke, Bettina and Zierz, Stephan and Jordan, Berit and Baum, Petra and Wolf, Joachim and Winkler, Andrea and Young, Peter and Bogdahn, Ulrich and Prudlo, Johannes and Kassubek, Jan Rainer}, title={SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden}, year={2020}, pages={139.e9-139.e15}, language={eng}, issn={1558-1497}, volume={87}, note={The German ALS network MND-NET collaborators: Ute Weyen, Andreas Hermann, Martin Regensburger, J{\"u}rgen Winkler, Ralf Linker, Beate Winner, Tim Hagenacker, Jan Christoph Koch, Paul Lingor, Bettina G{\"o}ricke, Stephan Zierz, Berit Jordan, Petra Baum, Joachim Wolf, Andrea Winkler, Peter Young, Ulrich Bogdahn, Johannes Prudlo, Jan Kassubek ; Available online 2 November 2019 ; Gesehen am 17.06.2021}, journal={Neurobiology of aging}, doi={10.1016/j.neurobiolaging.2019.10.018}, }