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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study von May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Jabbari, Kamel, Ruppert, Ann-Kathrin, Lal, Dennis, Cestèle, Sandrine, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, Sisodiya, Sanjay M, Nabbout, Rima, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Desbiens, Richard, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Avbersek, Andreja, McCormack, Mark, Delanty, Norman, Depondt, Chantal, Zimprich, Fritz, Peter, Sarah, van Rooij, Jeroen, Ikram, M Arfan, Avanzini, Giuliano, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger, May, Patrick, Girard, Simon, Bobbili, Dheeraj R, Schubert, Julian, Arfan Ikram, M, Maljevic, Snezana, Cossette, Patrick, Lerche, Holger, Ferlazzo, Edoardo, La Neve, Angela, Vignoli, Aglaia, Crichiutti, Giovanni, Gambardella, Antonio, Belcastro, Vincenzo, Bianchi, Amedeo, Yalçın, Destina, Dizdarer, Gulsen, Arslan, Kezban, Yapıcı, Zuhal, Kuşcu, Demet, Leu, Costin, Heggeli, Kristin, Willis, Joseph, Jorgensen, Andrea, Srivastava, Prashant, Rau, Sarah
Veröffentlicht in Lancet neurology
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A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine von Berghuis, Bianca, Stapleton, Caragh, Sonsma, Anja C. M., Hulst, Janic, Haan, Gerrit‐Jan, Lindhout, Dick, Demurtas, Rita, Krause, Roland, Depondt, Chantal, Kunz, Wolfram S., Zara, Federico, Striano, Pasquale, Craig, John, Auce, Pauls, Marson, Anthony G., Stefansson, Hreinn, O'Brien, Terence J., Johnson, Michael R., Sills, Graeme J., Wolking, Stefan, Lerche, Holger, Sisodiya, Sanjay M., Sander, Josemir W., Cavalleri, Gianpiero L., Koeleman, Bobby P. C., McCormack, Mark, Avbersek, Andreja, Leu, Costin, Heggeli, Kristin, Willis, Joseph, Speed, Douglas, Sargsyan, Narek, Chinthapalli, Krishna, Borghei, Mojgansadat, Coppola, Antonietta, Gambardella, Antonio, Becker, Felicitas, Rau, Sarah, Hengsbach, Christian, Weber, Yvonne G., Delanty, Norman, Campbell, Ellen, Gudmundsson, Lárus J., Ingason, Andres, Stefánsson, Kári, Schneider, Reinhard, Balling, Rudi, Francis, Ben, Jorgensen, Andrea, Morris, Andrew, Langley, Sarah, Srivastava, Prashant, Brodie, Martin, Todaro, Marian, Petrovski, Slave, Hutton, Jane, Zimprich, Fritz, Krenn, Martin, Muhle, Hiltrud, Martin Klein, Karl, Moller, Rikke, Nikanorova, Marina, Weckhuysen, Sarah, Rener‐Primec, Zvonka
Veröffentlicht in Epilepsia open
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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP43 inclusions von Van Deerlin, V.M, Sleiman, P.M.A, Martinez-Lage, M, Chen-Plotkin, A, Wang, L.S, Graff-Radford, N.R, Dickson, D.W, Rademakers, R, Boeve, B.F, Grossman, M, Arnold, S.E, Mann, D.M.A, Pickering-Brown, S.M, Seelaar, H, Heutink, P, van Swieten, J.C, Murrell, J.R, Ghetti, B, Spina, S, Grafman, J, Hodges, J, Spillantini, M.G, Gilman, S, Lieberman, A.P, Kaye, J.A, Woltjer, R.L, Bigio, E.H, Mesulam, M, al-Sarraj, S, Troakes, C, Rosenberg, R.N, White, C.L, Ferrer, I, Llado, A, Neumann, M, Kretzschmar, H.A, Hulette, C.M, Welsh-Bohmer, K.A, Miller, B.L, Alzualde, A, de Munain, A.L, McKee, A.C, Gearing, M, Levey, A.I, Lah, J.J, Hardy, J, Rohrer, J.D, Lashley, T, Mackenzie, I.R.A, Feldman, H.H, Hamilton, R.L, Dekosky, S.T, van der Zee, J, Kumar-Singh, S, Van Broeckhoven, C, Mayeux, R, Vonsattel, J.P.G, Troncoso, J.C, Kril, J.J, Kwok, J.B.J, Halliday, G.M, Bird, T.D, Ince, P.G, Shaw, P.J, Cairns, N.J, Morris, J.C, McLean, C.A, DeCarli, C, Ellis, W.G, Freeman, S.H, Frosch, M.P, Growdon, J.H, Perl, D.P, Sano, M, Bennett, D.A, Schneider, J.A, Beach, T.G, Reiman, E.M, Woodruff, B.K, Cummings, J, Vinters, H.V, Miller, C.A, Chui, H.C, Alafuzoff, I, Hartikainen, P, Seilhean, D, Galasko, D, Masliah, E, Cotman, C.W, Tunon, M.T, Martinez, M.C.C, Munoz, D.G, Carroll, S.L, Marson, D, Riederer, P.F, Bogdanovic, N, Schellenberg, G.D, Hakonarson, H, Trojanowski, J.Q, Lee, V.M.Y
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