@article{UBHD-68757731, author={Bliederh{\"a}user, Corinna and Zondler, Lisa and Grozdanov, Veselin and Ruf, Wolfgang P. and Brenner, David and Melrose, Heather L. and Bauer, Peter and Ludolph, Albert C. and Gillardon, Frank and Kassubek, Jan Rainer and Weishaupt, Jochen H. and Danzer, Karin M.}, title={LRRK2 contributes to monocyte dysregulation in Parkinson’s disease}, subtitle={letter to the editor}, year={2016}, pages={1-5}, language={eng}, issn={2051-5960}, volume={4}, number={Artikel-ID 123}, note={Gesehen am 08.07.2021}, journal={Acta Neuropathologica Communications}, doi={10.1186/s40478-016-0396-2}, } @article{UBHD-68757685, author={Brenner, David and Hiergeist, Andreas and Adis, Carolin Isabel and Mayer, Benjamin and Geßner, André and Ludolph, Albert C. and Weishaupt, Jochen H.}, title={The fecal microbiome of ALS patients}, year={2018}, pages={132-137}, language={eng}, issn={1558-1497}, volume={61}, note={Online verf{\"u}gbar: 3 October 2017 ; Gesehen am 08.07.2021}, journal={Neurobiology of aging}, doi={10.1016/j.neurobiolaging.2017.09.023}, } @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-68720917, author={Brenner, David and Ludolph, Albert C. and Weishaupt, Jochen H.}, title={Gene specific therapies}, subtitle={the next therapeutic milestone in neurology}, year={2020}, pages={1-13}, language={eng}, issn={2524-3489}, volume={2}, number={Artikel-ID 25}, note={Gesehen am 07.04.2021}, journal={Neurological research and practice}, doi={10.1186/s42466-020-00075-z}, } @book{UBHD-69050328, author={Brenner, David}, organization={Universit{\"a}t Heidelberg}, title={Genetics and pathomechanisms of amyotrophic lateral sclerosis associated with mutations in the genes TBK1, KIF5A and CACNA1A}, address={Heidelberg}, year={2022}, pages={1 Band (verschiedene Seitenz{\"a}hlungen)}, language={eng}, note={Publikationsbasierte Habilitationsschrift bestehend aus einem Text und 5 Zeitschriftenaufs{\"a}tzen}, school={Habilitationsschrift, Ruprecht-Karls-Universit{\"a}t Heidelberg, 2022, Kumulative Habilitationsschrift}, library={UB [Signatur: 2023 U 293] ; UW [Signatur: Habil. 22.16]}, } @incollection{UBHD-68995948, author={Brenner, David and Weishaupt, Jochen H.}, title={Genetik}, year={2022}, pages={15-23}, language={ger}, isbn={978-3-17-039166-6 and 3-17-039166-6}, booktitle={Amyotrophe Lateralsklerose und andere Motoneuronerkrankungen}, editor={Hermann, Andreas}, } @article{UBHD-68749552, author={Brenner, David and Sieverding, Kirsten and Kr{\"o}ger, Clara and L{\"u}ningschr{\"o}r, Patrick and Buck, Eva and Mungwa, Simon and Fischer, Lena and Brockmann, Sarah J. and Ulmer, Johannes and Bliederh{\"a}user, Corinna and Philibert, Clémentine E. and Satoh, Takashi and Akira, Shizuo and Boillée, Séverine and Mayer, Benjamin and Sendtner, Michael and Ludolph, Albert C. and Danzer, Karin M. and Lobsiger, Christian S. and Freischmidt, Axel and Weishaupt, Jochen H.}, title={Heterozygous Tbk1 loss has opposing effects in early and late stages of ALS in mice}, year={2019}, pages={267-278}, language={eng}, issn={1540-9538}, volume={216}, number={2}, note={Gesehen am 16.06.2021}, journal={Journal of experimental medicine}, doi={10.1084/jem.20180729}, } @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-68757729, author={Brenner, David and M{\"u}ller, Kathrin and Wieland, Thomas and Weydt, Patrick and B{\"o}hm, Sarah and Lulé, Dorothée and H{\"u}bers, Annemarie and Neuwirth, Christoph and Weber, Markus and Borck, Guntram and Wahlqvist, Magnus and Danzer, Karin M. and Volk, Alexander E. and Meitinger, Thomas and Strom, Tim M. and Otto, Markus and Kassubek, Jan and Ludolph, Albert C. and Andersen, Peter M. and Weishaupt, Jochen H.}, title={NEK1 mutations in familial amyotrophic lateral sclerosis}, subtitle={letter to the editor}, year={2016}, pages={1-4}, language={eng}, issn={1460-2156}, volume={139}, note={Gesehen am 08.07.2021}, journal={Brain}, doi={10.1093/brain/aww033}, } @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}, } @book{UBHD-67892029, author={Brenner, David}, title={The role of the CD95 system in Parkinson's disease}, year={2015}, pages={86 Bl.}, language={eng}, school={Heidelberg, Univ., Diss., 2015}, library={UB [Signatur: 2015 U 912]}, } @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-68749376, author={Brenner, David and Weishaupt, Jochen H.}, title={Update on amyotrophic lateral sclerosis genetics}, year={2019}, pages={735-739}, language={eng}, issn={1473-6551}, volume={32}, number={5}, note={Gesehen am 16.06.2021}, journal={Current opinion in neurology}, doi={10.1097/WCO.0000000000000737}, } @article{UBHD-68720943, author={Freischmidt, Axel and Brenner, David and Ludolph, Albert C. and Andersen, Peter M. and Weishaupt, Jochen H.}, title={Commentary: Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity}, year={2020}, pages={1-2}, language={eng}, issn={1662-453X}, volume={14}, number={Artikel-ID 551006}, note={Gesehen am 07.04.2021}, journal={Frontiers in neuroscience}, doi={10.3389/fnins.2020.551006}, } @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-68757730, author={Helferich, Anika Marie and Brockmann, Sarah J. and Reinders, J{\"o}rg and Deshpande, Dhruva and Holzmann, Karlheinz and Brenner, David and Andersen, Peter M. and Petri, Susanne and Thal, Dietmar R. and Michaelis, Jens and Otto, Markus and Just, Steffen and Ludolph, Albert C. and Danzer, Karin M. and Freischmidt, Axel and Weishaupt, Jochen H.}, title={Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS}, year={2018}, pages={4301-4319}, language={eng}, issn={1420-9071}, volume={75}, number={23}, note={Gesehen am 08.07.2021}, journal={Cellular and molecular life sciences}, doi={10.1007/s00018-018-2873-1}, } @article{UBHD-68757717, author={Kr{\"o}ger, Clara and Sieverding, Kirsten and Freischmidt, Axel and Satoh, Takashi and Walther, Paul and Mayer, B and Ludolph, Albert C. and Akira, Shizuo and Yilmazer-Hanke, Deniz and Danzer, Karin M and Lobsiger, Christian S and Brenner, David and Weishaupt, Jochen H.}, title={Haploinsufficiency of TANK-binding kinase 1 prepones age-associated neuroinflammatory changes without causing motor neuron degeneration in aged mice}, year={2020}, pages={1-13}, language={eng}, issn={2632-1297}, volume={2}, note={Gesehen am 08.07.2021}, journal={Brain communications}, doi={10.1093/braincomms/fcaa133}, } @article{UBHD-68757720, author={M{\"u}ller, Hans-Peter and Brenner, David and Roselli, Francesco and Wiesner, Diana and Abaei, Alireza and Gorges, Martin and Danzer, Karin M. and Ludolph, Albert C. and Tsao, William and Wong, Philip C. and Rasche, Volker and Weishaupt, Jochen H. and Kassubek, Jan Rainer}, title={Longitudinal diffusion tensor magnetic resonance imaging analysis at the cohort level reveals disturbed cortical and callosal microstructure with spared corticospinal tract in the TDP-43G298S ALS mouse model}, year={2019}, pages={1-13}, language={eng}, issn={2047-9158}, volume={8}, number={Artikel-ID 27}, note={Im Titel ist "G298S" hochgestellt ; Gesehen am 08.07.2021}, journal={Translational neurodegeneration}, doi={10.1186/s40035-019-0163-y}, } @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-68720905, author={Senderek, Jan and Lassuthova, Petra and Kabzińska, Dagmara and Abreu, Lisa and Baets, Jonathan and Beetz, Christian and Braathen, Geir J. and Brenner, David and Dalton, Joline and Dankwa, Lois and Deconinck, Tine and Jonghe, Peter De and Dr{\"a}ger, Bianca and Eggermann, Katja and Ellis, Melina and Fischer, Carina and Stojkovic, Tanya and Herrmann, David N. and Horvath, Rita and Høyer, Helle and Iglseder, Stephan and Kennerson, Marina and Kinslechner, Katharina and Kohler, Jennefer N. and Kurth, Ingo and Laing, Nigel G. and Lamont, Phillipa J. and L{\"o}scher, Wolfgang N. and Ludolph, Albert C. and Weishaupt, Jochen H. and Wiessner, Manuela and Windhager, Reinhard and Young, Peter and Z{\"u}chner, Stephan and Toegel, Stefan and Seeman, Pavel and Kochański, Andrzej and Auer-Grumbach, Michaela}, title={The genetic landscape of axonal neuropathies in the middle-aged and elderly}, subtitle={focus on MME}, year={2020}, pages={17 S.}, language={eng}, issn={1526-632X}, volume={95(2020}, note={Gesehen am 07.04.2021}, journal={Neurology}, doi={10.1212/WNL.0000000000011132}, } @article{UBHD-68720945, author={Sieverding, Kirsten and Ulmer, Johannes and Bruno, Clara and Satoh, Takashi and Tsao, William and Freischmidt, Axel and Akira, Shizuo and Wong, Philip C. and Ludolph, Albert C. and Danzer, Karin M. and Lobsiger, Christian S. and Brenner, David and Weishaupt, Jochen H.}, title={Hemizygous deletion of Tbk1 worsens neuromuscular junction pathology in TDP-43G298S transgenic mice}, year={2021}, pages={1-14}, language={eng}, issn={1090-2430}, volume={335}, number={Artikel-ID 113496}, note={Im Titel ist "G298S" hochgestellt ; Available online 8 October 2020 ; Gesehen am 07.04.2021}, journal={Experimental neurology}, doi={10.1016/j.expneurol.2020.113496}, } @article{UBHD-68760505, author={Tazelaar, Gijs H. P. and Dekker, Annelot M. and van Vugt, Joke J. F. A. and van der Spek, Rick A. and Westeneng, Henk-Jan and Kool, Lindy J. B. G. and Kenna, Kevin P. and van Rheenen, Wouter and Pulit, Sara L. and McLaughlin, Russell L. and Sproviero, William and Iacoangeli, Alfredo and H{\"u}bers, Annemarie and Brenner, David and Morrison, Karen E. and Shaw, Pamela J. and Shaw, Christopher E. and Panadés, Monica Povedano and Mora Pardina, Jesus S. and Glass, Jonathan D. and Hardiman, Orla and Al-Chalabi, Ammar and van Damme, Philip and Robberecht, Wim and Landers, John E. and Ludolph, Albert C. and Weishaupt, Jochen H. and van den Berg, Leonard H. and Veldink, Jan H. and van Es, Michael A.}, title={Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort}, year={2019}, pages={234.e9-234.e15}, language={eng}, issn={1558-1497}, volume={74(2019) vom: Feb.}, note={Online verf{\"u}gbar: 22 September 2018 ; Gesehen am 15.07.2021}, journal={Neurobiology of aging}, doi={10.1016/j.neurobiolaging.2018.09.012}, } @article{UBHD-69211415, author={Van Rheenen, Wouter and van der Spek, Rick A. A. and Bakker, Mark K. and van Vugt, Joke J. F. A. and Hop, Paul J. and Zwamborn, Ramona A. J. and de Klein, Niek and Westra, Harm-Jan and Bakker, Olivier B. and Deelen, Patrick and Shireby, Gemma and Hannon, Eilis and Moisse, Matthieu and Baird, Denis and Restuadi, Restuadi and Dolzhenko, Egor and Dekker, Annelot M. and Gawor, Klara and Westeneng, Henk-Jan and Tazelaar, Gijs H. P. and van Eijk, Kristel R. and Kooyman, Maarten and Byrne, Ross P. and Doherty, Mark and Heverin, Mark and Al Khleifat, Ahmad and Iacoangeli, Alfredo and Shatunov, Aleksey and Ticozzi, Nicola and Cooper-Knock, Johnathan and Smith, Bradley N. and Gromicho, Marta and Chandran, Siddharthan and Pal, Suvankar and Morrison, Karen E. and Shaw, Pamela J. and Hardy, John and Orrell, Richard W. and Sendtner, Michael and Meyer, Thomas and Başak, Nazli and van der Kooi, Anneke J. and Ratti, Antonia and Fogh, Isabella and Gellera, Cinzia and Lauria, Giuseppe and Corti, Stefania and Cereda, Cristina and Sproviero, Daisy and D’Alfonso, Sandra and Sorarù, Gianni and Siciliano, Gabriele and Filosto, Massimiliano and Padovani, Alessandro and Chiò, Adriano and Calvo, Andrea and Moglia, Cristina and Brunetti, Maura and Canosa, Antonio and Grassano, Maurizio and Beghi, Ettore and Pupillo, Elisabetta and Logroscino, Giancarlo and Nefussy, Beatrice and Osmanovic, Alma and Nordin, Angelica and Lerner, Yossef and Zabari, Michal and Gotkine, Marc and Baloh, Robert H. and Bell, Shaughn and Vourc’h, Patrick and Corcia, Philippe and Couratier, Philippe and Millecamps, Stéphanie and Meininger, Vincent and Salachas, François and Mora Pardina, Jesus S. and Assialioui, Abdelilah and Rojas-García, Ricardo and Dion, Patrick A. and Ross, Jay P. and Ludolph, Albert C. and Weishaupt, Jochen H. and Brenner, David and Freischmidt, Axel and Bensimon, Gilbert and Brice, Alexis and Durr, Alexandra and Payan, Christine A. M. and Saker-Delye, Safa and Wood, Nicholas W. and Topp, Simon and Rademakers, Rosa and Tittmann, Lukas and Lieb, Wolfgang and Franke, Andre and Ripke, Stephan and Braun, Alice and Kraft, Julia and Whiteman, David C. and Olsen, Catherine M. and Uitterlinden, Andre G. and Hofman, Albert and Rietschel, Marcella and Cichon, Sven and N{\"o}then, Markus M. and Amouyel, Philippe and Traynor, Bryan J. and Singleton, Andrew B. and Mitne Neto, Miguel and Cauchi, Ruben J. and Ophoff, Roel A. and Wiedau-Pazos, Martina and Lomen-Hoerth, Catherine and van Deerlin, Vivianna M. and Grosskreutz, Julian and Roediger, Annekathrin and Gaur, Nayana and J{\"o}rk, Alexander and Barthel, Tabea and Theele, Erik and Ilse, Benjamin and Stubendorff, Beatrice and Witte, Otto W. and Steinbach, Robert and H{\"u}bner, Christian A. and Graff, Caroline and Brylev, Lev and Fominykh, Vera and Demeshonok, Vera and Ataulina, Anastasia and Rogelj, Boris and Koritnik, Blaž and Zidar, Janez and Ravnik-Glavač, Metka and Glavač, Damjan and Stević, Zorica and Drory, Vivian and Povedano, Monica and Blair, Ian P. and Kiernan, Matthew C. and Benyamin, Beben and Henderson, Robert D. and Furlong, Sarah and Mathers, Susan and McCombe, Pamela A. and Needham, Merrilee and Ngo, Shyuan T. and Nicholson, Garth A. and Pamphlett, Roger and Rowe, Dominic B. and Steyn, Frederik J. and Williams, Kelly L. and Mather, Karen A. and Sachdev, Perminder S. and Henders, Anjali K. and Wallace, Leanne and de Carvalho, Mamede and Pinto, Susana and Petri, Susanne and Weber, Markus and Rouleau, Guy A. and Silani, Vincenzo and Curtis, Charles J. and Breen, Gerome and Glass, Jonathan D. and Brown, Robert H. and Landers, John E. and Shaw, Christopher E. and Andersen, Peter M. and Groen, Ewout J. N. and van Es, Michael A. and Pasterkamp, R. Jeroen and Fan, Dongsheng and Garton, Fleur C. and McRae, Allan F. and Davey Smith, George and Gaunt, Tom R. and Eberle, Michael A. and Mill, Jonathan and McLaughlin, Russell L. and Hardiman, Orla and Kenna, Kevin P. and Wray, Naomi R. and Tsai, Ellen and Runz, Heiko and Franke, Lude and Al-Chalabi, Ammar and Van Damme, Philip and van den Berg, Leonard H. and Veldink, Jan H.}, title={Author correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology}, subtitle={amendments}, year={2022}, pages={361-361}, language={eng}, issn={1546-1718}, volume={54}, number={3}, note={Gesehen am 06.05.2024}, journal={Nature genetics}, doi={10.1038/s41588-022-01020-3}, } @article{UBHD-68956940, author={Van Rheenen, Wouter and van der Spek, Rick A. A. and Bakker, Mark K. and van Vugt, Joke J. F. A. and Hop, Paul J. and Zwamborn, Ramona A. J. and de Klein, Niek and Westra, Harm-Jan and Bakker, Olivier B. and Deelen, Patrick and Shireby, Gemma and Hannon, Eilis and Moisse, Matthieu and Baird, Denis and Restuadi, Restuadi and Dolzhenko, Egor and Dekker, Annelot M. and Gawor, Klara and Westeneng, Henk-Jan and Tazelaar, Gijs H. P. and van Eijk, Kristel R. and Kooyman, Maarten and Byrne, Ross P. and Doherty, Mark and Heverin, Mark and Al Khleifat, Ahmad and Iacoangeli, Alfredo and Shatunov, Aleksey and Ticozzi, Nicola and Cooper-Knock, Johnathan and Smith, Bradley N. and Gromicho, Marta and Chandran, Siddharthan and Pal, Suvankar and Morrison, Karen E. and Shaw, Pamela J. and Hardy, John and Orrell, Richard W. and Sendtner, Michael and Meyer, Thomas and Başak, Nazli and van der Kooi, Anneke J. and Ratti, Antonia and Fogh, Isabella and Gellera, Cinzia and Lauria, Giuseppe and Corti, Stefania and Cereda, Cristina and Sproviero, Daisy and D’Alfonso, Sandra and Sorarù, Gianni and Siciliano, Gabriele and Filosto, Massimiliano and Padovani, Alessandro and Chiò, Adriano and Calvo, Andrea and Moglia, Cristina and Brunetti, Maura and Canosa, Antonio and Grassano, Maurizio and Beghi, Ettore and Pupillo, Elisabetta and Logroscino, Giancarlo and Nefussy, Beatrice and Osmanovic, Alma and Nordin, Angelica and Lerner, Yossef and Zabari, Michal and Gotkine, Marc and Baloh, Robert H. and Bell, Shaughn and Vourc’h, Patrick and Corcia, Philippe and Couratier, Philippe and Millecamps, Stéphanie and Meininger, Vincent and Salachas, François and Mora Pardina, Jesus S. and Assialioui, Abdelilah and Rojas-García, Ricardo and Dion, Patrick A. and Ross, Jay P. and Ludolph, Albert C. and Weishaupt, Jochen H. and Brenner, David and Rietschel, Marcella and Veldink, Jan H.}, title={Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology}, year={2021}, pages={1636-1648}, language={eng}, issn={1546-1718}, volume={53}, number={12}, note={Autoren: Wouter van Rheenen, Jochen H. Weishaupt, David Brenner, Marcella Rietschel [und 188 weitere] ; Gesehen am 24.08.2022}, journal={Nature genetics}, doi={10.1038/s41588-021-00973-1}, } @article{UBHD-69279708, author={Wischnewski, Sven and Th{\"a}wel, Thomas and Ikenaga, Chiseko and Kocharyan, Anna and Lerma Martin, Celia and Zulji, Amel and Rausch, Hans-Werner and Brenner, David and Thomas, Leonie and Kutza, Michael and Wick, Brittney and Trobisch, Tim and Preuße, Corinna and Haeussler, Maximilian and Leipe, Jan and Ludolph, Albert C. and Rosenbohm, Angela and Hoke, Ahmet and Platten, Michael and Weishaupt, Jochen H. and Sommer, Clemens J. and Stenzel, Werner and Lloyd, Thomas E. and Schirmer, Lucas}, title={Cell type mapping of inflammatory muscle diseases highlights selective myofiber vulnerability in inclusion body myositis}, year={2024}, pages={969-983}, language={eng}, issn={2662-8465}, volume={4}, number={7 vom: Juli}, note={Online ver{\"o}ffentlicht: 04. Juni 2024 ; Gesehen am 03.12.2024}, journal={Nature aging}, doi={10.1038/s43587-024-00645-9}, } @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}, } @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}, }