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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

by Sønderby, Ida E., van der Meer, Dennis, Moreau, Clara, Abdellaoui, Abdel, Amunts, Katrin, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas B., Blangero, John, Brouwer, Rachel M., Bøen, Rune, Cahn, Wiepke, Calhoun, Vince D., Caspers, Svenja, Ching, Christopher R. K., Cichon, Sven, Ciufolini, Simone, Curran, Joanne E., Dale, Anders M., Dazzan, Paola, de Geus, Eco J. C., de Zubicaray, Greig I., de Zwarte, Sonja M. C., Doherty, Joanne L., Eising, Else, Fejgin, Kim, Fisher, Simon E., Fladby, Tormod, Frei, Oleksandr, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Ge, Tian, Glahn, David C., Groenewold, Nynke A., Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Hibar, Derrek P., Hoffmann, Per, Holleran, Laurena, Holmes, Avram J., Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E., Ikeda, Masashi, Jahanshad, Neda, Johansson, Stefan, Jørgensen, Niklas R., Kikuchi, Masataka, Kumar, Kuldeep, Le Hellard, Stephanie, Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri Johansen, Maillard, Anne M., Martin, Nicholas G., Mather, Karen A., Mathias, Samuel R., McMahon, Katie L., McRae, Allan F., Meyer-Lindenberg, Andreas, Modenato, Claudia, Mühleisen, Thomas W., Murray, Robin M., Nielsen, Jacob, Nordvik, Jan E., Nyberg, Lars, Loohuis, Loes M. Olde, Owen, Michael J., Paus, Tomas, Pausova, Zdenka, Peralta, Juan M., Pike, G. Bruce, Prieto, Carlos, Quinlan, Erin B., Reinbold, Céline S., Sachdev, Perminder S., Sando, Sigrid B., Schofield, Peter R., Silva, Ana I., Sisodiya, Sanjay M., Steen, Vidar M., Stein, Dan J., Strike, Lachlan T., Suzuki, Ikuo K., Tamnes, Christian K., Thalamuthu, Anbupalam, Tordesillas-Gutiérrez, Diana, Uhlmann, Anne, Ulfarsson, Magnus O., van ‘t Ent, Dennis, van den Bree, Marianne B. M., Vanderhaeghen, Pierre, Vassos, Evangelos, Wen, Wei, Wittfeld, Katharina, Wright, Margaret J., Westlye, Lars T., Stefansson, Hreinn, Jacquemont, Sébastien, Andreassen, Ole A.
Published in Translational psychiatry (22.03.2021)

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Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

by Sønderby, Ida E., Doan, Nhat Trung, Hibar, Derrek P., Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Blangero, John, Boomsma, Dorret I., Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Dazzan, Paola, de Geus, Eco J. C., Delanty, Norman, Desrivières, Sylvane, Draganski, Bogdan, Ehrlich, Stefan, Fisher, Simon E., Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C., Groenewold, Nynke A., Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Heinz, Andreas, Hillegers, Manon H. J., Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E., Ikeda, Masashi, Jernigan, Terry, Jockwitz, Christiane, Jönsson, Erik G., Kahn, Rene, Kelly, Sinead, Knowles, Emma E. M., Hellard, Stephanie Le, Leu, Costin, Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Murray, Robin, Nordvik, Jan E., Nyberg, Lars, Olde Loohuis, Loes M., Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M., Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Quintana, Daniel S., Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santiañez, Roberto, Rokicki, Jarek, Sachdev, Perminder, Schmaal, Lianne, Schumann, Gunter, Stein, Dan J., Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Turner, Jessica, Ulfarsson, Magnus O., van ’t Ent, Dennis, van der Meer, Dennis, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D., Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Agartz, Ingrid, Jacquemont, Sébastien, Djurovic, Srdjan, Thompson, Paul, Andreassen, Ole A.
Published in Molecular psychiatry (01.03.2020)

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Distinct gene-set burden patterns underlie common generalized and focal epilepsies

by Koko, Mahmoud, Krause, Roland, Sander, Thomas, Bobbili, Dheeraj Reddy, Lerche, Holger, Feng, Yen-Chen Anne, Abbott, Liam E, Tashman, Katherine, Singh, Tarjinder, Byrnes, Andrea, Churchhouse, Claire, Solomonson, Matthew, Dhindsa, Ryan S, Cavalleri, Gianpiero L, Weckhuysen, Sarah, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, Dlugos, Dennis J, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Weckhuysen, Dorien, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Papacostas, Savvas S, Laššuthová, Petra, Knake, Susanne, Kunz, Wolfram S, Bauer, Jürgen, Muhle, Hiltrud, vanBaalen, Andreas, vonSpiczak, Sarah, Korczyn, Amos D, Häusler, Martin, Lemke, Johannes R, Weber, Yvonne G, Wolking, Stefan, Becker, Felicitas, Schubert-Bast, Susanne, Borggräfe, Ingo, Mayer, Thomas, Brockmann, Knut, Madeleyn, Rene, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I, Chung, Seo-Kyung, Powell, Robert, Sills, Graeme J, Baum, Larry W, Cherny, Stacey S, Delanty, Norman, El-Naggar, Hany, Zara, Federico, Madia, Francesca, Tinuper, Paolo, Stipa, Carlotta, Labate, Angelo, Gagliardi, Monica, Vetro, Annalisa, Montomoli, Martino, Doccini, Viola, Suzuki, Toshimitsu, Arslan, Mutluay, Kara, Bulent, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Haryanyan, Garen, Özkara, Çiğdem, Shiedley, Beth R, Ferraro, Thomas N, Privitera, Michael, Schachter, Steven, Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L, Spalletta, Gianfranco, McQuillin, Andrew, Blackwood, Douglas, Palotie, Aarno, Bromet, Evelyn J, Achtyes, Eric D, Azevedo, Maria Helena, Medeiros, Helena, Macciardi, Fabio, Rapaport, Mark H, Knowles, James A, Cohort, Genomic Psychiatry, Fanous, Ayman H, Gupta, Namrata, Daly, Mark J, Lowenstein, Daniel H, Goldstein, David B, Neale, Benjamin M
Published in EBioMedicine (01.10.2021)

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Genome-wide association study of copy number variations in Parkinson's disease

by Landoulsi, Zied, Sreelatha, Ashwin Ashok Kumar, Schulte, Claudia, Bobbili, Dheeraj Reddy, Montanucci, Ludovica, Leu, Costin, Niestroj, Lisa-Marie, Hassanin, Emadeldin, Domenighetti, Cloé, Pavelka, Lukas, Sugier, Pierre-Emmanuel, Radivojkov-Blagojevic, Milena, Lichtner, Peter, Portugal, Berta, Edsall, Connor, Kruger, Jens, Hernandez, Dena G, Blauwendraat, Cornelis, Mellick, George D, Zimprich, Alexander, Pirker, Walter, Tan, Manuela, Rogaeva, Ekaterina, Lang, Anthony E, Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugenie, Brockmann, Kathrin, Deutschländer, Angela B, Hadjigeorgiou, Georges M, Dardiotis, Efthimos, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Burbulla, Lena F, Matsuo, Hirotaka, Nakayama, Akiyoshi, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Kolber, Pierre, van de Warrenburg, Bart Pc, Bloem, Bastiaan R, Singleton, Andrew B, Toft, Mathias, Pihlstrom, Lasse, Guedes, Leonor Correia, Ferreira, Joaquim J, Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Wirdefeldt, Karin, Pedersen, Nancy L, Ran, Caroline, Belin, Andrea C, Puschmann, Andreas, Clarke, Carl E, Morrison, Karen E, Krainc, Dimitri, Farrer, Matt J, Lal, Dennis, Elbaz, Alexis, Gasser, Thomas, Krüger, Rejko, Sharma, Manu, May, Patrick
Published in medRxiv : the preprint server for health sciences (22.08.2024)

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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

by Singh, Tarjinder, Churchhouse, Claire, Heinzen, Erin L, Cavalleri, Gianpiero L, Helbig, Ingo, May, Patrick, Sitharthan Kamalakaran, Sisodiya, Sanjay M, Marson, Anthony G, Mckenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Esther Mc Johns, Weckhuysen, Dorien, O'brien, Terence J, Sadoway, Tara R, Krestel, Heinz, Gallati, Sabina, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Reif, Philipp S, Knake, Susanne, Pendziwiat, Manuela, Korczyn, Amos D, Kurlemann, Gerhard, Müller-Schlüter, Karen, Häusler, Martin, Lemke, Johannes R, Krey, Ilona, Maisch, Ana F, Schubert-Bast, Susanne, Schreiber, Herbert, Schankin, Christoph J, Mayer, Thomas, Korinthenberg, Rudolf, Dennig, Dieter, Madeleyn, Rene, Anna-Elina Lehesjoki, Schneider, Natascha, Braatz, Vera, Johnson, Michael R, Sham, Pak C, Barišić, Nina, Doherty, Colin P, Canafoglia, Laura, Franceschetti, Silvana, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Licchetta, Laura, Pippucci, Tommaso, Minardi, Raffaella, Labate, Angelo, Parrini, Elena, Mei, Davide, Marini, Carla, Suzuki, Toshimitsu, Sadleir, Lynette G, King, Chontelle, Yapıcı, Zuhal, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Sibel Uğur-İşeri, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çğdem Özkara, Russell J.Buono, Thomas N.Ferraro, Michael Privitera, Jacqueline A.French, Ruben I.Kuzniecky, Orrin Devinsky, Colin A.Ellis, Gianfranco Spalletta, Tommaso Gili, Douglas Blackwood, Aarno Palotie, Michele T.Pato, Celia Barreto Carvalho, Eric D.Achtyes, Maria Helena Azevedo, Roman Kotov, Dolores Malaspina, Stephen R.Marder, Helena Medeiros, Christopher P.Morley, Janet L Sobell, James A.Knowles, Ayman H.Fanous, Steven A.Mccarroll, Stacey B.Gabriel, Mark J.Daly, Eric S.Lander, Daniel H.Lowenstein
Published in bioRxiv (21.01.2019)

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A systems-level analysis highlights microglial activation as a modifying factor in common forms of human epilepsy

by Altmann, Andre, Ryten, Mina, Martina Di Nunzio, Ravizza, Teresa, Tolomeo, Daniele, Reynolds, Regina H, Somani, Alyma, Bacigaluppi, Marco, Iori, Valentina, Micotti, Edoardo, Botia, Juan A, Absil, Julie, Alhusaini, Saud, Alvim, Marina K M, Auvinen, Pia, Bargallo, Nuria, Bartolini, Emanuele, Bender, Benjamin, Bergo, Felipe, Bernardes, Tauana, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris C, Blackmon, Karen, Braga, Barbara, Caligiuri, Maria E, Cavalo, Anna, Carlson, Chad, Carr, Sarah, Cavalleri, Gianpiero, Cendes, Fernando, Chen, Jian, Chen, Shuai, Cherubini, Andrea, Concha, Luis, Philippe, David, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin P, Domin, Martin, Focke, Niels, Foley, Sonya, Franca, Wendy, Gambardella, Antonio, Guerrini, Renzo, Hamandi, Khalid, Hibar, Derrek P, Isaev, Dmitry Y, Jackson, Graeme, Jahanshad, Neda, Kalviainen, Reetta, Keller, Simon, Kochunov, Peter, Kotikalapudi, Raviteja, Kowalczyk, Magdalena A, Kuzniecky, Ruben, Kwan, Patrick, Labate, Angelo, Langer, Soenke, Lenge, Matteo, Liu, Min, Martin, Pascal, Mascalchi, Mario, Meletti, Stefano, Morita, Marcia E, O'brien, Terence J, Pariente, Jose C, Richardson, Mark P, Rodriguez-Cruces, Raul, Rummel, Christian, Saavalainen, Taavi, Semmelroch, Mira K, Mariasavina Severino, Striano, Pasquale, Thesen, Thomas, Thomas, Rhys H, Tondelli, Manuela, Tortora, Domenica, Vaudano, Anna Elisabetta, Vivash, Lucy, Felix Von Podewils, Wagner, Jan, Weber, Bernd, Wiest, Roland, Yasuda, Clarissa L, Zhang, Guohao, Zhang, Junsong, Enigma-Epilepsy Working Group, Leu, Costin, Avbersek, Andreja, Consortium, Epipgx, Thom, Maria, Whelan, Christopher D, Thompson, Paul, Mcdonald, Carrie, Vezzani, Annamaria, Sisodiya, Sanjay M
Published in bioRxiv (14.11.2018)

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