@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-68750156, author={Forouhideh, Yalda and M{\"u}ller, Kathrin and Ruf, Wolfgang and Assi, Muhannad and Şeker, Tuncay and Tunca, Ceren and Knehr, Antje and Strom, Tim M and Gorges, Martin and Schradt, Falk and Meitinger, Thomas and Ludolph, Albert C. and Pinkhardt, Elmar H and Başak, A Nazlı and Kassubek, Jan Rainer and Uttner, Ingo and Weishaupt, Jochen H.}, title={A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification}, subtitle={letter to the editor}, year={2019}, pages={e4}, language={eng}, issn={1460-2156}, volume={142}, number={2}, note={Gesehen am 17.06.2021}, journal={Brain}, doi={10.1093/brain/awy343}, } @article{UBHD-68720950, author={Lulé, Dorothée and M{\"u}ller, Hans-Peter and Finsel, Julia and Weydt, Patrick and Knehr, Antje and Winroth, Ivar and Andersen, Peter and Weishaupt, Jochen H. and Uttner, Ingo and Kassubek, Jan Rainer and Ludolph, Albert C.}, title={Deficits in verbal fluency in presymptomatic C9orf72 mutation gene carriers}, subtitle={a developmental disorder}, year={2020}, pages={1195-1200}, language={eng}, issn={1468-330X}, volume={91}, number={11}, note={Gesehen am 07.04.2021}, journal={Journal of neurology, neurosurgery, and psychiatry}, doi={10.1136/jnnp-2020-323671}, } @article{UBHD-68760495, author={M{\"u}ller, Kathrin and Brenner, David and Weydt, Patrick and Meyer, Thomas and Grehl, Torsten and Petri, Susanne and Großkreutz, Julian and Schuster, Joachim and Volk, Alexander E. and Borck, Guntram and Kubisch, Christian and Klopstock, Thomas and Zeller, Daniel and Jablonka, Sibylle and Sendtner, Michael and Klebe, Stephan and Knehr, Antje and G{\"u}nther, Kornelia and Weis, Joachim and Claeys, Kristl G. and Schrank, Berthold and Sperfeld, Anne-Dorte and H{\"u}bers, Annemarie and Otto, Markus and Dorst, Johannes and Meitinger, Thomas and Strom, Tim M. and Andersen, Peter M. and Ludolph, Albert C. and Weishaupt, Jochen H.}, title={Comprehensive analysis of the mutation spectrum in 301 German ALS families}, year={2018}, pages={817-827}, language={eng}, issn={1468-330X}, volume={89}, number={8}, note={Gesehen am 15.07.2021}, journal={Journal of neurology, neurosurgery, and psychiatry}, doi={10.1136/jnnp-2017-317611}, } @article{UBHD-69135456, author={Ruf, Wolfgang and Hannon, Eilis and Freischmidt, Axel and Grozdanov, Veselin and Brenner, David and M{\"u}ller, Kathrin and Knehr, Antje and G{\"u}nther, Kornelia and Dorst, Johannes and Ammerpohl, Ole and Danzer, Karin M. and Mill, Jonathan and Ludolph, Albert C. and Weishaupt, Jochen H.}, title={Methylome analysis of ALS patients and presymptomatic mutation carriers in blood cells}, year={2022}, pages={16-24}, language={eng}, issn={1558-1497}, volume={116(2022) vom: Aug.}, note={Online verf{\"u}gbar: 20 April 2022, Artikelversion: 7 May 2022 ; Gesehen am 31.10.2023}, journal={Neurobiology of aging}, doi={10.1016/j.neurobiolaging.2022.04.003}, } @article{UBHD-68995667, author={Weydt, Patrick and Oeckl, Patrick and Huss, Andre and M{\"u}ller, Kathrin and Volk, Alexander E. and Kuhle, Jens and Knehr, Antje and Andersen, Peter M. and Prudlo, Johannes and Steinacker, Petra and Weishaupt, Jochen H. and Ludolph, Albert C. and Otto, Markus}, title={Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis}, year={2016}, pages={152-158}, language={eng}, issn={0364-5134}, volume={79}, number={1}, journal={Annals of neurology}, doi={10.1002/ana.24552}, } @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}, }