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Journal Article

Hippen, Marius, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Peeva, Viktoriya, Machts, Judith, Schwiecker, Kati, Debska-Vielhaber, Grazyna, Wiesner, Rudolf J., Vielhaber, Stefan and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2022). Novel Pathogenic Sequence Variation m.5789T > C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome. Neurol.-Genet., 8 (2). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

Schwarz, Niklas ORCID: 0000-0002-4064-3073, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brunger, Tobias, Hedrich, Ulrike B. S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan ORCID: 0000-0003-4986-8006, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo ORCID: 0000-0002-7272-7079, Heimer, Gali, Iacomino, Michele ORCID: 0000-0003-4788-9719, Kearney, Hugh ORCID: 0000-0003-2320-3487, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Kousiappa, Ioanna ORCID: 0000-0002-7491-5946, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, 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 ORCID: 0000-0001-8698-3770, Muhle, Hiltrud, Helbig, Ingo and Weber, Yvonne (2022). Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. Neurology, 98 (20). S. E2046 - 14. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Anttila, Verneri ORCID: 0000-0002-0073-4675, Bulik-Sullivan, Brendan, Finucane, Hilary K., Walters, Raymond K., Bras, Jose, Duncan, Laramie ORCID: 0000-0003-1131-661X, Escott-Price, Valentina ORCID: 0000-0003-1784-5483, Falcone, Guido J., Gormley, Padhraig, Malik, Rainer ORCID: 0000-0001-9212-2520, Patsopoulos, Nikolaos A., Ripke, Stephan, Wei, Zhi ORCID: 0000-0001-6059-4267, Yu, Dongmei ORCID: 0000-0001-7901-4365, Lee, Phil H., Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe ORCID: 0000-0001-9088-234X, Boland, Anne, Deleuze, Jean-Francois, Duron, Emmanuelle, Vardarajan, Badri N., Reitz, Christiane, Goate, Alison M., Huentelman, Matthew J., Kamboh, M. Ilyas, Larson, Eric B., Rogaeva, Ekaterina, St George-Hyslop, Peter ORCID: 0000-0003-0796-7209, Hakonarson, Hakon, Kukull, Walter A., Farrer, Lindsay A., Barnes, Lisa L., Beach, Thomas G., Demirci, F. Yesim ORCID: 0000-0001-6907-9843, Head, Elizabeth, Hulette, Christine M., Jicha, Gregory A., Kauwe, John S. K., Kaye, Jeffrey A., Leverenz, James B., Levey, Allan I., Lieberman, Andrew P., Pankratz, Vernon S., Poon, Wayne W., Quinn, Joseph F., Saykin, Andrew J., Schneider, Lon S., Smith, Amanda G., Sonnen, Joshua A., Stern, Robert A., Van Deerlin, Vivianna M., Van Eldik, Linda J., Harold, Denise ORCID: 0000-0001-5195-0143, Russo, Giancarlo, Rubinsztein, David C., Bayer, Anthony, Tsolaki, Magda ORCID: 0000-0002-2072-8010, Proitsi, Petra, Fox, Nick C., Hampel, Harald, Owen, Michael J., Mead, Simon, Passmore, Peter, Morgan, Kevin ORCID: 0000-0002-8217-2396, Noethen, Markus M., Rossor, Martin ORCID: 0000-0001-8215-3120, Lupton, Michelle K., Hoffmann, Per, Kornhuber, Johannes ORCID: 0000-0002-8096-3987, Lawlor, Brian, McQuillin, Andrew ORCID: 0000-0003-1567-2240, Al-Chalabi, Ammar, Bis, Joshua C., Ruiz, Agustin, Boada, Merce, Seshadri, Sudha ORCID: 0000-0001-6135-2622, Beiser, Alexa, Rice, Kenneth, van der Lee, Sven J., De Jager, Philip L., Geschwind, Daniel H., Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I., Ransmayr, Gerhard, Hyman, Bradley T., Cruchaga, Carlos, Alegret, Montserrat ORCID: 0000-0002-8164-9500, Winsvold, Bendik, Palta, Priit ORCID: 0000-0001-9320-7008, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas, Kurth, Tobias ORCID: 0000-0001-7169-2620, Ligthart, Lannie ORCID: 0000-0002-6570-3319, Terwindt, Gisela M., Freilinger, Tobias, Ran, Caroline ORCID: 0000-0003-0239-9871, Gordon, Scott D., Borck, Guntram, Adams, Hieab H. H., Lehtimaki, Terho, Wedenoja, Juho ORCID: 0000-0002-6155-0378, Buring, Julie E., Schuerks, Markus, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari ORCID: 0000-0002-6946-9195, Vepsalainen, Salli, Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja I., Hamalainen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb ORCID: 0000-0001-8063-7674, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth ORCID: 0000-0003-1249-4442, Goebel, Hartmut, Macaya, Alfons, Pozo-Rosich, Patricia, Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko ORCID: 0000-0002-3716-2455, Metspalu, Andres, Kubisch, Christian ORCID: 0000-0003-4220-0978, Ferrari, Michel D., Belin, Andrea C., van den Maagdenberg, Arn M. J. M., Zwart, John-Anker, Boomsma, Dorret, Eriksson, Nicholas, Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Avbersek, Andreja, Baum, Larry, Berkovic, Samuel, Bradfield, Jonathan, Buono, Russell, Catarino, Claudia B., Cossette, Patrick, De Jonghe, Peter, Depondt, Chantal, Dlugos, Dennis, Ferraro, Thomas N., French, Jacqueline, Hjalgrim, Helle, Jamnadas-Khoda, Jennifer ORCID: 0000-0002-3372-4924, Kalviainen, Reetta, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Lerche, Holger, Leu, Costin ORCID: 0000-0003-0598-3301, Lindhout, Dick, Lo, Warren, Lowenstein, Daniel, McCormack, Mark, Moller, Rikke S., Molloy, Anne, Ng, Ping-Wing, Oliver, Karen, Privitera, Michael, Radtke, Rodney, Ruppert, Ann-Kathrin, Sander, Thomas, Schachter, Steven, Schankin, Christoph, Scheffer, Ingrid, Schoch, Susanne, Sisodiya, Sanjay M., Smith, Philip, Sperling, Michael, Striano, Pasquale ORCID: 0000-0002-6065-1476, Surges, Rainer, Thomas, G. Neil ORCID: 0000-0002-2777-1847, Visscher, Frank, Whelan, Christopher D., Zara, Federico, Heinzen, Erin L., Marson, Anthony ORCID: 0000-0002-6861-8806, Becker, Felicitas, Stroink, Hans, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Gasser, Thomas, Gibbs, Raphael, Heutink, Peter ORCID: 0000-0001-5218-1737, Martinez, Maria ORCID: 0000-0003-2180-4537, Morris, Huw R., Sharma, Manu, Ryten, Mina, Mok, Kin Y., Pulit, Sara ORCID: 0000-0002-2502-3669, Bevan, Steve, Holliday, Elizabeth, Attia, John, Battey, Thomas, Boncoraglio, Giorgio, Thijs, Vincent ORCID: 0000-0002-6614-8417, Chen, Wei-Min, Mitchell, Braxton, Rothwell, Peter, Sharma, Pankaj, Sudlow, Cathie ORCID: 0000-0002-7725-7520, Vicente, Astrid ORCID: 0000-0001-7134-8037, Markus, Hugh, Kourkoulis, Christina, Pera, Joana, Raffeld, Miriam, Silliman, Scott, Perica, Vesna Boraska, Thornton, Laura M., Huckins, Laura M., Rayner, N. William, Lewis, Cathryn M., Gratacos, Monica, Rybakowski, Filip ORCID: 0000-0001-5503-3019, Keski-Rahkonen, Anna ORCID: 0000-0002-6713-7488, Raevuori, Anu ORCID: 0000-0001-7704-9441, Hudson, James I., Reichborn-Kjennerud, Ted, Monteleone, Palmiero, Karwautz, Andreas, Mannik, Katrin, Baker, Jessica H., O'Toole, Julie K., Trace, Sara E., Davis, Oliver S. P., Helder, Sietske G., Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Danner, Unna N., van Elburg, Annemarie A., Clementi, Maurizio, Forzan, Monica ORCID: 0000-0003-2653-7300, Docampo, Elisa, Lissowska, Jolanta ORCID: 0000-0003-2695-5799, Hauser, Joanna, Tortorella, Alfonso, Maj, Mario, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Papezova, Hana, Yilmaz, Zeynep, Wagner, Gudrun, Cohen-Woods, Sarah ORCID: 0000-0003-2199-6129, Herms, Stefan ORCID: 0000-0002-2786-8200, Julia, Antonio, Rabionet, Raquel ORCID: 0000-0001-5006-8140, Dick, Danielle M., Ripatti, Samuli, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri J., Steen, Vidar M., Pinto, Dalila ORCID: 0000-0002-8769-0846, Scherer, Stephen W., Aschauer, Harald ORCID: 0000-0002-4449-372X, Schosser, Alexandra, Alfredsson, Lars ORCID: 0000-0003-1688-6697, Padyukov, Leonid, Halmi, Katherine A., Mitchell, James, Strober, Michael, Bergen, Andrew W., Kaye, Walter, Szatkiewicz, Jin Peng, Cormand, Bru ORCID: 0000-0001-5318-4382, Antoni Ramos-Quiroga, Josep, Sanchez-Mora, Cristina ORCID: 0000-0003-4211-1107, Ribases, Marta ORCID: 0000-0003-1039-1116, Casas, Miguel, Hervas, Amaia, Jesus Arranz, Maria, Haavik, Jan, Zayats, Tetyana, Johansson, Stefan ORCID: 0000-0002-2298-7008, Williams, Nigel, Dempfle, Astrid ORCID: 0000-0002-2618-3920, Rothenberger, Aribert, Kuntsi, Jonna ORCID: 0000-0002-0113-8162, Oades, Robert D., Banaschewski, Tobias, Franke, Barbara ORCID: 0000-0003-4375-6572, Buitelaar, Jan K., Arias Vasquez, Alejandro, Doyle, Alysa E., Reif, Andreas, Lesch, Klaus-Peter ORCID: 0000-0001-8348-153X, Freitag, Christine, Rivero, Olga ORCID: 0000-0002-2664-4053, Palmason, Haukur, Romanos, Marcel ORCID: 0000-0001-7628-8299, Langley, Kate, Rietschel, Marcella, Witt, Stephanie H., Dalsgaard, Soeren, Borglum, Anders D., Waldman, Irwin, Wilmot, Beth, Molly, Nikolas, Bau, Claiton H. D., Crosbie, Jennifer, Schachar, Russell, K., Sandra, McGough, James J., Grevet, Eugenio H., Medland, Sarah E., Robinson, Elise, Weiss, Lauren A., Bacchelli, Elena, Bailey, Anthony, Bal, Vanessa, Battaglia, Agatino ORCID: 0000-0002-7128-7606, Betancur, Catalina ORCID: 0000-0002-3327-4804, Bolton, Patrick, Cantor, Rita, Celestino-Soper, Patricia, Dawson, Geraldine, De Rubeis, Silvia ORCID: 0000-0001-9383-6883, Duque, Frederico ORCID: 0000-0001-5684-1472, Green, Andrew, Klauck, Sabine M., Leboyer, Marion, Levitt, Pat, Maestrini, Elena, Mane, Shrikant, Moreno-De-Luca, Daniel, Parr, Jeremy, Regan, Regina, Reichenberg, Abraham, Sandin, Sven ORCID: 0000-0001-6994-4884, Vorstman, Jacob, Wassink, Thomas ORCID: 0000-0002-0952-8333, Wijsman, Ellen, Cook, Edwin, Santangelo, Susan, Delorme, Richard ORCID: 0000-0002-5614-3663, Roge, Bernadette, Magalhaes, Tiago, Arking, Dan, Schulze, Thomas G., Thompson, Robert C., Strohmaier, Jana, Matthews, Keith, Melle, Ingrid, Morris, Derek, Blackwood, Douglas, McIntosh, Andrew, Bergen, Sarah E., Schalling, Martin, Jamain, Stephane ORCID: 0000-0002-4321-4100, Maaser, Anna, Fischer, Sascha B., Reinbold, Celine S., Fullerton, Janice M., Guzman-Parra, Jose ORCID: 0000-0002-1463-6435, Mayoral, Fermin, Schofield, Peter R., Cichon, Sven, Muhleisen, Thomas W., Degenhardt, Franziska, Schumacher, Johannes, Bauer, Michael, Mitchell, Philip B., Gershon, Elliot S., Rice, John, Potash, James B., Zandi, Peter P., Craddock, Nick, Ferrier, I. Nicol, Alda, Martin ORCID: 0000-0001-9544-3944, Rouleau, Guy A., Turecki, Gustavo ORCID: 0000-0003-4075-2736, Ophoff, Roel, Pato, Carlos, Anjorin, Adebayo, Stahl, Eli, Leber, Markus, Czerski, Piotr M., Cruceanu, Cristiana, Jones, Ian R., Posthuma, Danielle, Andlauer, Till F. M., Forstner, Andreas J., Streit, Fabian, Baune, Bernhard T., Air, Tracy, Sinnamon, Grant, Wray, Naomi R., MacIntyre, Donald J., Porteous, David, Homuth, Georg, Rivera, Margarita ORCID: 0000-0003-4717-1045, Grove, Jakob ORCID: 0000-0003-2284-5744, Middeldorp, Christel M., Hickie, Ian, Pergadia, Michele, Mehta, Divya, Smit, Johannes H., Jansen, Rick ORCID: 0000-0002-3333-6737, de Geus, Eco, Dunn, Erin, Li, Qingqin S., Nauck, Matthias, Schoevers, Robert A., Beekman, Aartjan T. F., Knowles, James A., Viktorin, Alexander ORCID: 0000-0003-2141-2816, Arnold, Paul, Barr, Cathy L., Bedoya-Berrio, Gabriel, Bienvenu, O. Joseph, Brentani, Helena ORCID: 0000-0001-5192-4682, Burton, Christie ORCID: 0000-0002-8955-6528, Camarena, Beatriz ORCID: 0000-0001-7737-501X, Cappi, Carolina, Cath, Danielle, Cavallini, Maria, Cusi, Daniele, Darrow, Sabrina, Denys, Damiaan, Derks, Eske M., Dietrich, Andrea, Fernandez, Thomas, Figee, Martijn ORCID: 0000-0003-3679-284X, Freimer, Nelson, Gerber, Gloria, Grados, Marco ORCID: 0000-0002-6189-6264, Greenberg, Erica, Hanna, Gregory L., Hartmann, Andreas, Hirschtritt, Matthew E., Hoekstra, Pieter J., Huang, Alden, Huyser, Chaim ORCID: 0000-0001-8757-3124, Illmann, Cornelia, Jenike, Michael, Kuperman, Samuel ORCID: 0000-0002-5995-1981, Leventhal, Bennett, Lochner, Christine, Lyon, Gholson J., Macciardi, Fabio, Madruga-Garrido, Marcos, Malaty, Irene A., Maras, Athanasios, McGrath, Lauren, Miguel, Euripedes C., Mir, Pablo ORCID: 0000-0003-1656-302X, Nestadt, Gerald, Nicolini, Humberto, Okun, Michael S., Pakstis, Andrew, Paschou, Peristera, Piacentini, John, Pittenger, Christopher, Plessen, Kerstin, Ramensky, Vasily, Ramos, Eliana M., Reus, Victor, Richter, Margaret A., Riddle, Mark A., Robertson, Mary M., Roessner, Veit, Rosario, Maria, Samuels, Jack F., Sandor, Paul ORCID: 0000-0003-2397-0758, Stein, Dan J., Tsetsos, Fotis, Van Nieuwerburgh, Filip ORCID: 0000-0001-8815-5485, Weatherall, Sarah, Wendland, Jens R., Wolanczyk, Tomasz, Worbe, Yulia ORCID: 0000-0001-5903-9370, Zai, Gwyneth, Goes, Fernando S., McLaughlin, Nicole, Nestadt, Paul S., Grabe, Hans-Jorgen, Depienne, Christel, Konkashbaev, Anuar, Lanzagorta, Nuria ORCID: 0000-0001-6769-6813, Valencia-Duarte, Ana, Bramon, Elvira ORCID: 0000-0003-1369-5983, Buccola, Nancy, Cahn, Wiepke, Cairns, Murray ORCID: 0000-0003-2490-2538, Chong, Siow A., Cohen, David, Crespo-Facorro, Benedicto, Crowley, James, Davidson, Michael, DeLisi, Lynn, Dinan, Timothy, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Haan, Lieuwe, Hougaard, David, Karachanak-Yankova, Sena, Khrunin, Andrey, Klovins, Janis, Kucinskas, Vaidutis, Keong, Jimmy Lee Chee, Limborska, Svetlana ORCID: 0000-0002-1697-6820, Loughland, Carmel, Lonnqvist, Jouko, Maher, Brion, Mattheisen, Manuel ORCID: 0000-0002-8442-493X, McDonald, Colm ORCID: 0000-0003-1661-5192, Murphy, Kieran C., Nenadic, Igor, van Os, Jim ORCID: 0000-0002-7245-1586, Pantelis, Christos ORCID: 0000-0002-9565-0238, Pato, Michele, Petryshen, Tracey ORCID: 0000-0002-7972-4612, Quested, Digby ORCID: 0000-0001-6155-3336, Roussos, Panos, Sanders, Alan R., Schall, Ulrich, Schwab, Sibylle G., Sim, Kang ORCID: 0000-0003-3209-9626, So, Hon-Cheong ORCID: 0000-0002-7102-833X, Stoegmann, Elisabeth, Subramaniam, Mythily, Toncheva, Draga, Waddington, John, Walters, James ORCID: 0000-0002-6980-4053, Weiser, Mark, Cheng, Wei, Cloninger, Robert, Curtis, David, Gejman, Pablo V., Henskens, Frans, Mattingsdal, Morten ORCID: 0000-0003-4440-0324, Oh, Sang-Yun, Scott, Rodney, Webb, Bradley, Breen, Gerome, Churchhouse, Claire, Bulik, Cynthia M., Daly, Mark, Dichgans, Martin, Faraone, Stephen V., Guerreiro, Rita ORCID: 0000-0001-5879-3486, Holmans, Peter, Kendler, Kenneth S., Koeleman, Bobby, Mathews, Carol A., Price, Alkes, Scharf, Jeremiah, Sklar, Pamela, Williams, Julie ORCID: 0000-0002-4069-0259, Wood, Nicholas W., Cotsapas, Chris ORCID: 0000-0002-7772-5910, Palotie, Aarno, Smoller, Jordan W., Sullivan, Patrick, Rosand, Jonathan, Corvin, Aiden and Neale, Benjamin M. (2018). Analysis of shared heritability in common disorders of the brain. Science, 360 (6395). S. 1313 - 1326. WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 1095-9203

Peeva, Viktoriya, Blei, Daniel, Trombly, Genevieve, Corsi, Sarah ORCID: 0000-0002-8680-7870, Szukszto, Maciej J., Rebelo-Guiomar, Pedro, Gammage, Payam A., Kudin, Alexei P., Becker, Christian, Altmueller, Janine, Minczuk, Michal, Zsurka, Gabor ORCID: 0000-0002-6379-849X and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2018). Linear mitochondrial DNA is rapidly degraded by components of the replication machinery. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

May, Patrick ORCID: 0000-0001-8698-3770, Girard, Simon ORCID: 0000-0002-4089-2280, Harrer, Merle, Bobbili, Dheeraj R., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-Lopez, Rosa, Baulac, Stephanie ORCID: 0000-0001-6430-4693, Marini, Carla, Thiele, Holger, Altmueller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestele, Sandrine ORCID: 0000-0002-5982-1562, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale ORCID: 0000-0002-6065-1476, Caglayan, Hande, Siren, Auli, Everett, Kate ORCID: 0000-0001-6700-1698, Moller, Rikke S., Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Weber, Yvonne G., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francois, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clement, Jean-Francois, Cieuta-Walti, Cecile, Sills, Graeme J., Auce, Pauls, Francis, Ben, Johnson, Michael R., Marson, Anthony G., Berghuis, Bianca, Sander, Josemir W., Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Krenn, Martin ORCID: 0000-0003-3026-3082, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi ORCID: 0000-0003-2902-5650, Ikram, M. Arfan, Uitterlinden, Andre G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven ORCID: 0000-0002-4960-6375, Mantegazza, Massimo ORCID: 0000-0002-1070-7929, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M., Koeleman, Bobby P. C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Zara, Federico, Cossette, Patrick, Krause, Roland ORCID: 0000-0001-9938-7126 and Lerche, Holger (2018). Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol., 17 (8). S. 699 - 709. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1474-4465

Kudin, Alexei P., Baron, Gregor, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Hampel, Kevin G., Elger, Christian E., Grote, Alexander, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Nuernberg, Peter, Schulz, Herbert, Ruppert, Ann-Kathrin, Sander, Thomas, Cheng, Qing, Arner, Elias S. J., Schomburg, Lutz, Seeher, Sandra, Fradejas-Villar, Noelia, Schweizer, Ulrich ORCID: 0000-0003-1380-4780 and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2017). Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. Free Radic. Biol. Med., 106. S. 270 - 278. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1873-4596

Lal, Dennis, Reinthaler, Eva M., Dejanovici, Borislav, May, Patrick ORCID: 0000-0001-8698-3770, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Gunter, Riesch, Erik, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico ORCID: 0000-0001-9744-5222, Hahn, Andreas, Gormley, Padhraig ORCID: 0000-0002-8908-6968, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Krause, Roland ORCID: 0000-0001-9938-7126, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Lemke, Johannes R., Nuernberg, Peter, Sander, Thomas, Lerche, Holger and Neubauer, Bernd A. (2016). Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One, 11 (3). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Hallmann, Kerstin, Kudin, Alexei P., Zsurka, Gabor ORCID: 0000-0002-6379-849X, Kornblum, Cornelia, Reimann, Jens, Stueve, Burkhard, Waltz, Stephan, Hattingen, Elke ORCID: 0000-0002-8392-9004, Thiele, Holger, Nuernberg, Peter, Rueb, Cornelia, Voos, Wolfgang, Kopatz, Jens, Neumann, Harald and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2016). Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain, 139. S. 338 - 346. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Winter, Lilli ORCID: 0000-0002-6368-1160, Wittig, Ilka, Peeva, Viktoriya, Eggers, Britta ORCID: 0000-0002-6553-4631, Heidler, Juliana, Chevessier, Frederic, Kley, Rudolf A., Barkovits, Katalin, Strecker, Valentina, Berwanger, Carolin, Herrmann, Harald, Marcus, Katrin, Kornblum, Cornelia, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Schroeder, Rolf and Clemen, Christoph S. (2016). Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. Acta Neuropathol., 132 (3). S. 453 - 474. NEW YORK: SPRINGER. ISSN 1432-0533

Volmering, Elisa, Niehusmann, Pitt, Peeva, Viktoriya, Grote, Alexander, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Altmueller, Janine, Nuernberg, Peter, Becker, Albert J., Schoch, Susanne, Elger, Christian E. and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2016). Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy. Acta Neuropathol., 132 (2). S. 277 - 289. NEW YORK: SPRINGER. ISSN 1432-0533

Lal, Dennis, Pernhorst, Katharina, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Reif, Philipp, Tozzi, Rossana, Toliat, Mohammad R., Winterer, Georg, Neubauer, Bernd, Nuernberg, Peter, Rosenow, Felix, Becker, Felicitas, Lerche, Holger, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Kurki, Mitja I., Hoffmann, Per, Becker, Albert J., Perucca, Emilio, Zara, Federico ORCID: 0000-0001-9744-5222, Sander, Thomas and Weber, Yvonne G. (2015). Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. Epilepsia, 56 (9). S. E129 - 5. HOBOKEN: WILEY. ISSN 1528-1167

Dejanovic, Boris Lav, Lal, Dennis, Catarino, Claudia B., Arjune, Sita, Belaidi, Abdel A., Trucks, Holger, Vollmar, Christian ORCID: 0000-0002-4630-7484, Surges, Rainer ORCID: 0000-0002-3177-8582, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Motameny, Susanne, Altmueller, Janine, Koehler, Anna, Neubauer, Bernd A., Nuernberg, Peter, Noachtar, Soheyl, Schwarz, Gunter and Sander, Thomas (2014). Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. Neurobiol. Dis., 67. S. 88 - 97. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1095-953X

Kukat, Alexandra, Dogan, Sukru Anil ORCID: 0000-0002-1800-2923, Edgar, Daniel, Mourier, Arnaud, Jacoby, Christoph, Maiti, Priyanka ORCID: 0000-0003-4207-0341, Mauer, Jan ORCID: 0000-0002-0189-5876, Becker, Christina, Senft, Katharina, Wibom, Rolf, Kudin, Alexei P., Hultenby, Kjell, Floegel, Ulrich, Rosenkranz, Stephan, Ricquier, Daniel, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 and Trifunovic, Aleksandra (2014). Loss of UCP2 Attenuates Mitochondrial Dysfunction without Altering ROS Production and Uncoupling Activity. PLoS Genet., 10 (6). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Hallmann, Kerstin, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Moskau-Hartmann, Susanna, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Korinthenberg, Rudolf ORCID: 0000-0002-4638-3460, Ruppert, Ann-Kathrin, Ozdemir, Ozkan, Weber, Yvonne, Becker, Felicitas, Lerche, Holger, Elger, Christian E., Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2014). A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology, 83 (23). S. 2183 - 2188. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Steffens, Michael ORCID: 0000-0002-6445-8593, Leu, Costin ORCID: 0000-0003-0598-3301, Ruppert, Ann-Kathrin, Zara, Federico ORCID: 0000-0001-9744-5222, Striano, Pasquale ORCID: 0000-0002-6065-1476, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio ORCID: 0000-0001-7384-3074, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G. F., Trenite, Dorothee Kasteleijn-Nolst, de Haan, Gerrit-Jan ORCID: 0000-0003-2373-9863, Lindhout, Dick ORCID: 0000-0001-9580-624X, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefuss-Lie, Ailing A., Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Surges, Rainer ORCID: 0000-0002-3177-8582, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo ORCID: 0000-0001-8486-0558, Stephani, Ulrich, Moller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah ORCID: 0000-0003-1949-8489, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie ORCID: 0000-0001-6430-4693, Leguern, Eric, Guerrero, Rosa ORCID: 0000-0002-4138-4667, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Moerzinger, Martina, Feucht, Martha, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid ORCID: 0000-0003-0328-198X, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena ORCID: 0000-0002-3833-3754, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Gieger, Christian ORCID: 0000-0001-6986-9554, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David ORCID: 0000-0002-4332-6110, Franke, Andre ORCID: 0000-0003-1530-5811, Meesters, Christian ORCID: 0000-0003-2408-7588, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rueschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nuernberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P. C. and Sander, Thomas (2012). Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum. Mol. Genet., 21 (24). S. 5359 - 5373. OXFORD: OXFORD UNIV PRESS. ISSN 0964-6906

This list was generated on Mon Nov 25 18:14:52 2024 CET.