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Pyruvate dehydrogenase autoantibodies in autoantibody-negative patients with seizures are associated with reduced pyruvate dehydrogenase activity Breuer, Annika; Hummel, Chiara A.; Baumgartner, Tobias; Berns, Juliane L.; Said, Afaf Milad; Bunger, Isabel; Schoch, Susanne; Zsurka, Gabor; Pruss, Harald; Kunz, Wolfram S.; Surges, Rainer; Becker, Albert J.; Pitsch, Julika Share Save
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Ligase 3 prevents oxidative strand break-induced mitochondrial DNA loss but is not essential for replicative circularization Trombly, Genevieve; Said, Afaf Milad; Kudin, Alexei P.; Hallmann, Kerstin; Kakabadze, Anano; Peeva, Viktoriya; Becker, Kerstin; Kohrer, Karl; Zsurka, Gabor; Kunz, Wolfram S. Share Save
Selenium Ameliorated Oxidized Fish Oil-Induced Lipotoxicity via the Inhibition of Mitochondrial Oxidative Stress, Remodeling of Usp4-Mediated Deubiquitination, and Stabilization of Pparα Zhang, Dian-Guang; Kunz, Wolfram S. S.; Lei, Xi-Jun; Zito, Ester; Zhao, Tao; Xu, Yi-Chuang; Wei, Xiao-Lei; Lv, Wu-Hong; Luo, Zhi Share Save
Identification of galectin-3 as a novel potential prognostic/predictive biomarker and therapeutic target for cerebral cavernous malformation disease Kar, Souvik; Perrelli, Andrea; Bali, Kiran Kumar; Mastrocola, Raffaella; Kar, Arpita; Khan, Bushra; Gand, Luis; Nayak, Arnab; Hartmann, Christian; Kunz, Wolfram S.; Samii, Amir; Bertalanffy, Helmut; Retta, Saverio Francesco Share Save
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children Ahmad, Natalie; Fazeli, Walid; Schliesske, Sophia; Lesca, Gaetan; Gokce-Samar, Zeynep; Mekbib, Kedous Y.; Jin, Sheng Chih; Burton, Jennifer; Hoganson, George; Petersen, Andrea; Gracie, Sara; Granger, Leslie; Bartels, Enrika; Oppermann, Henry; Kundishora, Adam; Till, Marianne; Milleret-Pignot, Clara; Danger, Shane; Viskochil, David; Anderson, Katherine J.; Palculict, Timothy Blake; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Tiller, George E.; Kahle, Kristopher T.; Kunz, Wolfram S.; Burkart, Sebastian; Simons, Matias; Sticht, Heinrich; Abou Jamra, Rami; Neuser, Sonja Share Save
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin Boothman, Isabelle; Clayton, Lisa M.; McCormack, Mark; Driscoll, Alexandra McKibben; Stevelink, Remi; Moloney, Patrick; Krause, Roland; Kunz, Wolfram S.; Diehl, Sarah; O'Brien, Terence J.; Sills, Graeme J.; de Haan, Gerrit-Jan; Zara, Federico; Koeleman, Bobby P.; Depondt, Chantal; Marson, Anthony G.; Stefansson, Hreinn; Stefansson, Kari; Craig, John; Johnson, Michael R.; Striano, Pasquale; Lerche, Holger; Furney, Simon J.; Delanty, Norman; Sisodiya, Sanjay M.; Cavalleri, Gianpiero L. Share Save
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture Stevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain Zulfiqar Share Save
Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype Zsurka, Gabor; Appel, Maximilian L. T.; Nastaly, Maximilian; Hallmann, Kerstin; Hansen, Niels; Nass, Daniel; Baumgartner, Tobias; Surges, Rainer; Hartmann, Gunther; Bartok, Eva; Kunz, Wolfram S. Share Save
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A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand Mikhailova, Alina G.; Mikhailova, Alina A.; Ushakova, Kristina; Tretiakov, Evgeny O.; Iliushchenko, Dmitrii; Shamansky, Victor; Lobanova, Valeria; Kozenkov, Ivan; Efimenko, Bogdan; Yurchenko, Andrey A.; Kozenkova, Elena; Zdobnov, Evgeny M.; Makeev, Vsevolod; Yurov, Valerian; Tanaka, Masashi; Gostimskaya, Irina; Fleischmann, Zoe; Annis, Sofia; Franco, Melissa; Wasko, Kevin; Denisov, Stepan; Kunz, Wolfram S.; Knorre, Dmitry; Mazunin, Ilya; Nikolaev, Sergey; Fellay, Jacques; Reymond, Alexandre; Khrapko, Konstantin; Gunbin, Konstantin; Popadin, Konstantin Share Save
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A.; Bennett, Mark F.; Damiano, John A.; Zsurka, Gabor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stephanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E.; Bahlo, Melanie; Berkovic, Samuel F.; Hildebrand, Michael S.; Kunz, Wolfram S.; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso Share Save
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brunger, Tobias; Hedrich, Ulrike B. S.; Augustijn, Paul B.; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J.; Bruria, Ben Zeev; Doyle, Michael G.; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele; Kearney, Hugh; Klein, Karl Martin; Kousiappa, Ioanna; Kunz, Wolfram S.; Lerche, Holger; Licchetta, Laura; Lohmann, Ebba; Minardi, Raffaella; McDonald, Marie; Montgomery, Sarah; Mulahasanovic, Lejla; Oegema, Renske; Ortal, Barel; Papacostas, Savvas S.; Ragona, Francesca; Granata, Tiziana; Reif, Phillip S.; Rosenow, Felix; Rothschild, Annick; Scudieri, Paolo; Striano, Pasquale; Tinuper, Paolo; Tanteles, George A.; Vetro, Annalisa; Zahnert, Felix; Goldberg, Ethan M.; Zara, Federico; Lal, Dennis; May, Patrick; Muhle, Hiltrud; Helbig, Ingo; Weber, Yvonne Share Save
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam Campbell, Ciaran; McCormack, Mark; Patel, Sonn; Stapleton, Caragh; Bobbili, Dheeraj; Krause, Roland; Depondt, Chantal; Sills, Graeme J.; Koeleman, Bobby P.; Striano, Pasquale; Zara, Federico; Sander, Josemir W.; Lerche, Holger; Kunz, Wolfram S.; Stefansson, Kari; Stefansson, Hreinn; Doherty, Colin P.; Heinzen, Erin L.; Scheffer, Ingrid E.; Goldstein, David B.; O'Brien, Terence; Cotter, David; Berkovic, Samuel F.; Sisodiya, Sanjay M.; Delanty, Norman; Cavalleri, Gianpiero L. Share Save
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A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies Strippel, Christine; Herrera-Rivero, Marisol; Wendorff, Mareike; Tietz, Anja K.; Degenhardt, Frauke; Witten, Anika; Schroeter, Christina; Nelke, Christopher; Golombeck, Kristin S.; Madlener, Marie; Rueber, Theodor; Ernst, Leon; Racz, Attila; Baumgartner, Tobias; Widman, Guido; Doppler, Kathrin; Thaler, Franziska; Siebenbrodt, Kai; Dik, Andre; Kerin, Constanze; Rauber, Saskia; Gallus, Marco; Kovac, Stjepana; Grauer, Oliver M.; Grimm, Alexander; Pruess, Harald; Wickel, Jonathan; Geis, Christian; Lewerenz, Jan; Goebels, Norbert; Ringelstein, Marius; Menge, Til; Tackenberg, Bjoern; Kellinghaus, Christoph; Bien, Christian G.; Kraft, Andrea; Zettl, Uwe; Ismail, Fatme Seval; Ayzenberg, Ilya; Urbanek, Christian; Suhs, Kurt-Wolfram; Tauber, Simone C.; Mues, Sigrid; Kortvelyessy, Peter; Markewitz, Robert; Paliantonis, Asterios; Elger, Christian E.; Surges, Rainer; Sommer, Claudia; Kumpfel, Tania; Gross, Catharina C.; Lerche, Holger; Wellmer, Jorg; Quesada, Carlos M.; Bergh, Florian Then; Wandinger, Klaus-Peter; Becker, Albert J.; Kunz, Wolfram S.; zu Hoerste, Gerd Meyer; Malter, Michael P.; Rosenow, Felix; Wiendl, Heinz; Kuhlenbaumer, Gregor; Leypoldt, Frank; Lieb, Wolfgang; Franke, Andre; Meuth, Sven G.; Stoll, Monika; Melzer, Nico Share Save
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