@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-69277026, author={Meyer, Thomas and Schumann, Peggy and Weydt, Patrick and Petri, Susanne and Weishaupt, Jochen H. and Weyen, Ute and Koch, Jan C. and G{\"u}nther, René and Regensburger, Martin and Boentert, Matthias and Wiesenfarth, Maximilian and Koc, Yasemin and Kolzarek, Felix and Kettemann, Dagmar and Norden, Jenny and Bernsen, Sarah and Elmas, Zeynep and Conrad, Julian and Valkadinov, Ivan and Vidovic, Maximilian and Dorst, Johannes and Ludolph, Albert C. and Hesebeck-Brinckmann, Jasper and Spittel, Susanne and M{\"u}nch, Christoph and Maier, André and K{\"o}rtvélyessy, Péter}, title={Clinical and patient-reported outcomes and neurofilament response during tofersen treatment in SOD1-related ALS}, subtitle={a multicenter observational study over 18 months}, year={2024}, pages={333-345}, language={eng}, issn={1097-4598}, volume={70}, number={3 vom: Sept.}, note={Erstmals ver{\"o}ffentlicht: 20. Juni 2024 ; Gesehen am 26.11.2024}, journal={Muscle & nerve}, doi={10.1002/mus.28182}, } @article{UBHD-69317661, author={Wiesenfarth, Maximilian and Dorst, Johannes and Brenner, David and Elmas, Zeynep and Parlak, {\"O}zlem and Uzelac, Zeljko and Kandler, Katharina and Mayer, Kristina and Weiland, Ulrike and Herrmann, Christine and Schuster, Joachim and Freischmidt, Axel and M{\"u}ller, Kathrin and Siebert, Reiner and Bachhuber, Franziska and Simak, Tatiana and G{\"u}nther, Kornelia and Fr{\"o}hlich, Elke and Knehr, Antje and Regensburger, Martin and German, Alexander and Petri, Susanne and Grosskreutz, Julian and Klopstock, Thomas and Reilich, Peter and Sch{\"o}berl, Florian and Hagenacker, Tim and Weyen, Ute and G{\"u}nther, René and Vidovic, Maximilian and Jentsch, Martin and Haarmeier, Thomas and Weydt, Patrick and Valkadinov, Ivan and Hesebeck-Brinckmann, Jasper and Conrad, Julian and Weishaupt, Jochen H. and Schumann, Peggy and K{\"o}rtvélyessy, Peter and Meyer, Thomas and Ruf, Wolfgang Philipp and Witzel, Simon and Senel, Makbule and Tumani, Hayrettin and Ludolph, Albert Christian}, title={Effects of tofersen treatment in patients with SOD1-ALS in a “real-world” setting - a 12-month multicenter cohort study from the German early access program}, year={2024}, pages={1-12}, language={eng}, issn={2589-5370}, volume={69}, number={Artikel-ID 102495}, note={Online verf{\"u}gbar: 15. Februar 2024, Artikelversion: 15. Februar 2024 ; Gesehen am 12.03.2025}, journal={EClinicalMedicine}, doi={10.1016/j.eclinm.2024.102495}, } @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}, } @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}, }