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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