9 results on '"Alvim, Marina K.M."'
Search Results
2. Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy
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Gonsales, Marina C., Ribeiro, Patrícia A.O., Betting, Luiz E., Alvim, Marina K.M., Guerreiro, Carlos M., Yasuda, Clarissa L., Gitaí, Daniel L.G., Cendes, Fernando, and Lopes-Cendes, Iscia
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- 2020
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3. Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study
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Kerestes, Rebecca, primary, Perry, Andrew, additional, Vivash, Lucy, additional, O'Brien, Terence, additional, Alvim, Marina K.M., additional, Arienzo, Donatello, additional, Aventurato, Ìtalo K., additional, Ballerini, Alice, additional, Baltazar, Gabriel F., additional, Bargalló, Núria, additional, Bender, Benjamin, additional, Brioschi, Ricardo, additional, Bürkle, Eva, additional, Caligiuri, Maria Eugenia, additional, Cendes, Fernando, additional, de Tisi, Jane, additional, Duncan, John S., additional, Engel, Jerome P., additional, Foley, Sonya, additional, Fortunato, Francesco, additional, Gambardella, Antonio, additional, Giacomini, Thea, additional, Guerrini, Renzo, additional, Hall, Gerard, additional, Hamandi, Khalid, additional, Ives-Deliperi, Victoria, additional, João, Rafael B., additional, Keller, Simon S., additional, Kleiser, Benedict, additional, Labate, Angelo, additional, Lenge, Matteo, additional, Marotta, Cassandra, additional, Martin, Pascal, additional, Mascalchi, Mario, additional, Meletti, Stefano, additional, Owens-Walton, Conor, additional, Parodi, Costanza b., additional, Pascual-Diaz, Saül, additional, Powell, David, additional, Rao, Jun, additional, Rebsamen, Michael, additional, Reiter, Johannes, additional, Riva, Antonella, additional, Rüeber, Theodor, additional, Rummel, Christian, additional, Scheffler, Freda, additional, Severino, Mariasavina, additional, Silva, Lucas S., additional, Staba, Richard J., additional, Stein, Dan J., additional, Striano, Pasquale, additional, Taylor, Peter N., additional, Thomopoulos, Sophia I., additional, Thompson, Paul M., additional, Tortora, Domenico, additional, Vaudano, Anna Elisabetta, additional, Weber, Bernd I, additional, Wiest, Roland, additional, Winston, Gavin P., additional, Yasuda, Clarissa L., additional, Zheng, Hong, additional, McDonald, Carrie, additional, Sisodiya, Sanjay, additional, and Harding, Ian H., additional
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- 2023
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4. Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients
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Alhusaini, Saud, Kowalczyk, Magdalena A., Yasuda, Clarissa L., Semmelroch, Mira K., Katsurayama, Marilise, Zabin, Matheus, Zanão, Tamires, Nogueira, Mateus H., Alvim, Marina K.M., Ferraz, Victória R., Tsai, Meng-Han, Fitzsimons, Mary, Lopes-Cendes, Iscia, Doherty, Colin P., Cavalleri, Gianpiero L., Cendes, Fernando, Jackson, Graeme D., and Delanty, Norman
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- 2019
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5. Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study
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Gleichgerrcht, Ezequiel, primary, Munsell, Brent C., additional, Alhusaini, Saud, additional, Alvim, Marina K.M., additional, Bargalló, Núria, additional, Bender, Benjamin, additional, Bernasconi, Andrea, additional, Bernasconi, Neda, additional, Bernhardt, Boris, additional, Blackmon, Karen, additional, Caligiuri, Maria Eugenia, additional, Cendes, Fernando, additional, Concha, Luis, additional, Desmond, Patricia M., additional, Devinsky, Orrin, additional, Doherty, Colin P., additional, Domin, Martin, additional, Duncan, John S., additional, Focke, Niels K., additional, Gambardella, Antonio, additional, Gong, Bo, additional, Guerrini, Renzo, additional, Hatton, Sean N., additional, Kälviäinen, Reetta, additional, Keller, Simon S., additional, Kochunov, Peter, additional, Kotikalapudi, Raviteja, additional, Kreilkamp, Barbara A.K., additional, Labate, Angelo, additional, Langner, Soenke, additional, Larivière, Sara, additional, Lenge, Matteo, additional, Lui, Elaine, additional, Martin, Pascal, additional, Mascalchi, Mario, additional, Meletti, Stefano, additional, O'Brien, Terence J., additional, Pardoe, Heath R., additional, Pariente, Jose C., additional, Xian Rao, Jun, additional, Richardson, Mark P., additional, Rodríguez-Cruces, Raúl, additional, Rüber, Theodor, additional, Sinclair, Ben, additional, Soltanian-Zadeh, Hamid, additional, Stein, Dan J., additional, Striano, Pasquale, additional, Taylor, Peter N., additional, Thomas, Rhys H., additional, Elisabetta Vaudano, Anna, additional, Vivash, Lucy, additional, von Podewills, Felix, additional, Vos, Sjoerd B., additional, Weber, Bernd, additional, Yao, Yi, additional, Lin Yasuda, Clarissa, additional, Zhang, Junsong, additional, Thompson, Paul M., additional, Sisodiya, Sanjay M., additional, McDonald, Carrie R., additional, Bonilha, Leonardo, additional, Altmann, Andre, additional, Depondt, Chantal, additional, Galovic, Marian, additional, Thomopoulos, Sophia I., additional, and Wiest, Roland, additional
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- 2021
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6. Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium
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Hofer, Edith, Roshchupkin, Gennady V., Adams, Hieab H. H., Knol, Maria J., Lin, Honghuang, Li, Shuo, Zare, Habil, Ahmad, Shahzad, Armstrong, Nicola J., Satizabal, Claudia L., Bernard, Manon, Bis, Joshua C., Gillespie, Nathan A., Luciano, Michelle, Mishra, Aniket, Scholz, Markus, Teumer, Alexander, Xia, Rui, Jian, Xueqiu, Mosley, Thomas H., Saba, Yasaman, Pirpamer, Lukas, Seiler, Stephan, Becker, James T., Carmichael, Owen, Rotter, Jerome I., Psaty, Bruce M., Lopez, Oscar L., Amin, Najaf, van der Lee, Sven J., Yang, Qiong, Himali, Jayandra J., Maillard, Pauline, Beiser, Alexa S., DeCarli, Charles, Karama, Sherif, Lewis, Lindsay, Harris, Mat, Bastin, Mark E., Deary, Ian J., Witte, A.Veronica, Beyer, Frauke, Loeffler, Markus, Mather, Karen A., Schofield, Peter R., Thalamuthu, Anbupalam, Kwok, John B., Wright, Margaret J., Ames, David, Trollor, Julian, Jiang, Jiyang, Brodaty, Henry, Wen, Wei, Vernooij, Meike W, Hofman, Albert, Uitterlinden, André G., Niessen, Wiro J., Wittfeld, Katharina, Bülow, Robin, Völker, Uwe, Pausova, Zdenka, Pike, G. Bruce, Maingault, Sophie, Crivello, Fabrice, Tzourio, Christophe, Amouye, Philippe, Mazoyer, Bernard, Neale, Michael C., Franz, Carol E., Lyons, Michael J., Panizzon, Matthew S., Andreassen, Ole A., Dale, Anders M., Logue, Mark, Grasby, Katrina L., Jahanshad, Neda, Painter, Jodie N., Colodro-Conde, Lucía, Bralten, Janita, Hibar, Derrek P., Lind, Penelope A., Pizzagalli, Fabrizio, Stein, Jason L., Thompson, Paul M., Medland, Sarah E., Ching Christopher, R.K., McMahon Mary Agnes, B., Shatokhina, Natalia, Zsembik, Leo C.P., Agartz, Ingrid, Alhusaini, Saud, Almeida, Marcio A.A., Alnæs, Dag, Amlien, Inge K., Andersson, Micael, Ard, Tyler, Ashley-Koch, Allison, Brouwer, Rachel M., Buimer, Elizabeth E.L., Bürger, Christian, Cannon, Dara M., Chakravarty, Mallar, Chen, Qiang, Cheung, Joshua W., Couvy-Duchesne, Baptiste, Dalvie, Shareefa, de Araujo, Tânia K., de Zubicaray, Greig I., de Zwarte, Sonja M.C., Braber, Anouk den, Doan, Nhat Trung, Dohm, Katharina, Ehrlich, Stefan, Engelbrecht, Hannah-Ruth, Erk, Susanne, Fan, Chun Chieh, Fedko, Iryna O., Foley, Sonya F., Ford, Judith M., Fukunaga, Masaki, Garrett, Melanie E., Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L., Groenewold, Nynke A., Grotegerd, Dominik, Gurholt, Tiril P., Gutman, Boris A., Hansell, Narelle K., Harris, Mathew A., Harrison, Marc B., Haswell, Courtney C., Hauser, Michael, Herms, Stefan, Heslenfeld, Dirk J., Ho, New Fei, Hoehn, David, Hoffmann, Per, Holleran, Laurena, Hoogman, Martine, Hottenga, Jouke-Jan, Ikeda, Masashi, Janowitz, Deborah, Jansen, Iris E., Jia, Tianye, Jockwitz, Christiane, Kanai, Ryota, Kasperaviciute, Dalia, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Klein, Marieke, Knapp, Michael, Knodt, Annchen R., Krämer, Bernd, Lam, Max, Lancaster, Thomas M., Lee, Phil H., Lett, Tristram A., Lewis, Lindsay B., Lopes-Cendes, Iscia, Macciardi, Fabio, Marquand, Andre F., Mathias, Samuel R., Melzer, Tracy R., Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Moreira, Jose C.V., Mühleisen, Thomas W., Müller-Myhsok, Bertram, Najt, Pablo, Nakahara, Soichiro, Nho, Kwangsik, Olde Loohuis, Loes M., Orfanos, Dimitri Papadopoulos, Pearson, John F., Pitcher, Toni L., Pütz, Benno, Ragothaman, Anjanibhargavi, Rashid, Faisal M., Ronny, Redlich, Reinbold, Céline S., Repple, Jonathan, Richard, Geneviève, Riedel, Brandalyn C., Risacher, Shannon L., Rocha, Cristiane S., Mota, Nina Roth, Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J., Schlag, Fenja, Schmaal, Lianne, Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shin, Jean, Shumskaya, Elena, Sønderby, Ida E., Sprooten, Emma, Strike, Lachlan T., Tansey, Katherine E., Thomopoulos, Sophia I., Tordesillas-Gutiérrez, Diana, Turner, Jessica A., Uhlmann, Anne, Vallerga, Costanza Ludovica, der Meer, Dennis van, van Donkelaar, Marjolein M.J., Eijk, Liza van, van Erp, Theo G.M., van Haren, Neeltje E.M., Rooij, Daan van, van Tol, Marie-José, Veldink, Jan H., Verhoef, Ellen, Walton, Esther, Wang, Mingyuan, Wang, Yunpeng, Wardlaw, Joanna M., Westlye, Lars T., Whelan, Christopher D., Witt, Stephanie H., Wolf, Christiane, Wolfers, Thomas, Yasuda, Clarissa L., Zaremba, Dario, Zhang, Zuo, Zhu, Alyssa H., Zwiers, Marcel P., Artiges, Eric, Assareh, Amelia A., Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L., Brown, Gregory G., Cichon, Sven, Curran, Joanne E., Davies, Gareth E., Degenhardt, Franziska, Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P., Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Gowland, Penny A., Green, Robert C., Häusler, Alexander N., Heindel, Walter, Ho, Beng-Choon, Hoffmann, Wolfgang U., Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack Jr., Clifford R., Jang, MiHyun, Jansen, Andreas, Kolskår, Knut, Koops, Sanne, Krug, Axel, Lim, Kelvin O., Luykx, Jurjen J., Mathalon, Daniel H., Mattay, Venkata S., Matthews, Sarah, Van Son, Jaqueline Mayoral, McEwen, Sarah C., Melle, Ingrid, Morris, Derek W., Mueller, Bryon A., Nauck, Matthias, Nordvik, Jan E., Nöthen, Markus M., O’Leary, Daniel S., Opel, Nils, Paillère Martinot, Marie-Laure, Preda, Adrian, Quinlan, Erin B., Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M., Torres, Fábio R., Veltman, Dick J., Voyvodic, James T., Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Alvim, Marina K.M., Anderson, Tim J., Arias-Vasquez, Alejandro, Baune, Bernhard T., Blangero, John, Boomsma, Dorret I., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bustillo, Juan R., Cahn, Wiepke, Calhoun, Vince, Caseras, Xavier, Caspers, Svenja, Cavalleri, Gianpiero L., Cendes, Fernando, Corvin, Aiden, Crespo-Facorro, Benedicto, Dalrymple-Alford, John C., Dannlowski, Udo, de Geus, Eco J.C., Delanty, Norman, Depondt, Chantal, Desrivières, Sylvane, Donohoe, Gary, Espeseth, Thomas, Fernández, Guillén, Fisher, Simon E., Flor, Herta, Forstner, Andreas J., Francks, Clyde, Franke, Barbara, Glahn, David C., Gollub, Randy L., Grabe, Hans J., Gruber, Oliver, Håberg, Asta K., Hariri, Ahmad R., Hartman, Catharina A., Hashimoto, Ryota, Heinz, Andreas, Hillegers, Manon H.J., Hoekstra, Pieter J., Holmes, Avram J., Hong, L. Elliot, Hopkins, William D., Hulshoff Pol, Hilleke E., Jernigan, Terry L., Jönsson, Erik G., Kahn, René S., Kennedy, Martin A., Kircher, Tilo T.J., Kochunov, Peter, Kwok, John B.J., Hellard, Stephanie Le, Martin, Nicholas G., Martinot, Jean - Luc, McDonald, Colm, McMahon, Katie L., Meyer-Lindenberg, Andreas, Morey, Rajendra A., Nyberg, Lars, Oosterlaan, Jaap, Ophoff, Roel A., Paus, Tomáš, Penninx, Brenda W.J.H., Polderman, Tinca J.C., Posthuma, Danielle, Rietschel, Marcella, Roffman, Joshua L., Rowland, Laura M., Sachdev, Perminder S., Sämann, Philipp G., Schumann, Gunter, Sim, Kang, Sisodiya, Sanjay M., Smoller, Jordan W., Sommer, Iris E., Pourcain, Beate St, Stein, Dan J., Toga, Arthur W., Trollor, Julian N., Van der Wee, Nic J.A., Ent, Dennis van’t, Völzke, Henry, Walter, Henrik, Weber, Bernd, Weinberger, Daniel R., Zhou, Juan, Kremen, William S., Villringer, Arno, Duijn, Cornelia M. van, Jörgen Grabe, Hans, Longstreth Jr, William T., Fornage, Myriam, Paus, Tomas, Debette, Stephanie, Ikram, M. Arfan, Schmidt, Helena, Schmidt, Reinhold, Seshadri, Sudha, and ENIGMA consortium
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0303 health sciences ,biology ,Genetic heterogeneity ,Cognition ,Hindbrain ,Disease ,Heritability ,Biobank ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,Evolutionary biology ,Cortex (anatomy) ,biology.protein ,medicine ,Sonic hedgehog ,030217 neurology & neurosurgery ,030304 developmental biology - Abstract
Cortical thickness, surface area and volumes (MRI cortical measures) vary with age and cognitive function, and in neurological and psychiatric diseases. We examined heritability, genetic correlations and genome-wide associations of cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprised 22,822 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the United Kingdom Biobank. Significant associations were replicated in the Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) consortium, and their biological implications explored using bioinformatic annotation and pathway analyses. We identified genetic heterogeneity between cortical measures and brain regions, and 161 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There was enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.
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- 2018
7. Planar cell polarity pathway and development of the human visual cortex
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Shin, Jean, Ma, Shaojie, Hofer, Edith, Patel, Yash, Roshchupkin, Gennady V., Sousa, André M., Jian, Xueqiu, Gottesman, Rebecca, Mosley, Thomas H., Fornage, Myriam, Saba, Yasaman, Pirpamer, Lukas, Schmidt, Reinhold, Schmidt, Helena, Carrion-Castillo, Amaia, Crivello, Fabrice, Mazoyer, Bernard, Bis, Joshua C., Li, Shuo, Yang, Qiong, Luciano, Michelle, Karama, Sherif, Lewis, Lindsay, Bastin, Mark, Harris, Mathew A., Wardlaw, Joanna M., Deary, Ian E., Scholz, Markus, Loeffler, Markus, Witte, Veronica, Beyer, Frauke, Villringer, Arno, Armstrong, Nicola J, Mather, Karen A., Ames, David, Jiang, Jiyang, Kwok, John B, Schofield, Peter R., Thalamuthu, Anbupalam, Trollor, Julian N., Wright, Margaret J., Brodaty, Henry, Wen, Wei, Sachdev, Perminder S., Terzikhan, Natalie, Evans, Tavia E., Adams, Hieab H.H.H., Ikram, M. Arfan, Frenzel, Stefan, van der Auwera-Palitschka, Sandra, Wittfeld, Katharina, Bülow, Robin, Grabe, Hans Jörgen, Tzourio, Christophe, Mishra, Aniket, Maingault, Sophie, Debette, Stephanie, Gillespie, Nathan A., Franz, Carol E., Kremen, William S., Ding, Linda, Jahanshad, Neda, Sestan, Nenad, Pausova, Zdenka, Seshadri, Sudha, Paus, Tomas, Grasby, Katrina L., Painter, Jodie N., Colodro-Conde, Lucía, Bralten, Janita, Hibar, Derrek P., Lind, Penelope A., Pizzagalli, Fabrizio, Ching, Christopher R.K., McMahon, Mary Agnes B., Shatokhina, Natalia, Zsembik, Leo, Agartz, Ingrid, Alhusaini, Saud, Almeida, Marcio A.A., Alnæs, Dag, Amlien, Inge K., Andersson, Micael, Ard, Tyler, Armstrong, Nicola J., Ashley-Koch, Allison, Bernard, Manon, Brouwer, Rachel M., Buimer, Elizabeth E.L., Bürger, Christian, Cannon, Dara M., Chakravarty, Mallasr, Chen, Qiang, Cheung, Joshua W., Couvy-Duchesne, Baptiste, Dale, Anders M., Dalvie, Shareefa, de Araujo, Tânia K., de Zubicaray, Greig I., de Zwarte, Sonja M.C., Braber, Anouk den, Doan, Nhat Trung, Dohm, Katharina, Ehrlich, Stefan, Engelbrecht, Hannah-Ruth, Erk, Susanne, Fan, Chun Chieh, Fedko, Iryna O., Foley, Sonya F., Ford, Judith M., Fukunaga, Masaki, Garrett, Melanie E., Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L., Groenewold, Nynke A., Grotegerd, Dominik, Gurholt, Tiril P., Gutman, Boris A., Hansell, Narelle K., Harrison, Marc B., Haswell, Courtney C., Hauser, Michael, Heslenfeld, Dirk J., Hoehn, David, Holleran, Laurena, Hoogman, Martine, Hottenga, Jouke-Jan, Ikeda, Masashi, Janowitz, Deborah, Jansen, Iris E., Jia, Tianye, Jockwitz, Christiane, Kanai, Ryota, Kasperaviciute, Dalia, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Klein, Marieke, Knapp, Michael, Knodt, Annchen R., Krämer, Bernd, Lancaster, Thomas M., Lee, Phil H., Lett, Tristram A., Lewis, Lindsay B., Lopes-Cendes, Iscia, Macciardi, Fabio, Marquand, Andre F., Mathias, Samuel R., Melzer, Tracy R., Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Moreira, Jose C.V., Mühleisen, Thomas W., Müller-Myhsok, Bertram, Najt, Pablo, Nakahara, Soichiro, Nho, Kwangsik, Olde Loohuis, Loes M., Orfanos, Dimitri Papadopoulos, Pearson, John F., Pitcher, Toni L., Pütz, Benno, Ragothaman, Anjanibhargavi, Rashid, Faisal M., Redlich, Ronny, Reinbold, Céline S., Repple, Jonathan, Richard, Geneviève, Riedel, Brandalyn C., Risacher, Shannon L., Rocha, Cristiane S., Mota, Nina Roth, Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J., Schlag, Fenja, Schmaal, Lianne, Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shumskaya, Elena, Sønderby, Ida E., Sprooten, Emma, Strike, Lachlan T., Tansey, Katherine E., Teumer, Alexander, Thomopoulos, Sophia I., Tordesillas-Gutiérrez, Diana, Turner, Jessica A., Uhlmann, Anne, Vallerga, Costanza Ludovica, van der Meer, Dennis, van Donkelaar, Marjolein M.J., van Eijk, Liza, van Erp, Theo G.M., van Haren, Neeltje E.M., van Rooij, Daan, van Tol, Marie-José, Veldink, Jan H., Verhoef, Ellen, Walton, Esther, Wang, Yunpeng, Westlye, Lars T., Whelan, Christopher D., Witt, Stephanie H., Wolf, Christiane, Wolfers, Thomas, Yasuda, Clarissa L., Zaremba, Dario, Zhang, Zuo, Zhu, Alyssa H., Zwiers, Marcel P., Artiges, Eric, Assareh, Amelia A., Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L., Brown, Gregory G., Cichon, Sven, Curran, Joanne E., Davies, Gareth E., Degenhardt, Franziska, Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P., Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Gowland, Penny A., Green, Robert C., Häusler, Alexander N., Heindel, Walter, Ho, Beng-Choon, Hoffmann, Wolfgang U., Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack Jr., Clifford R., Jang, MiHyun, Jansen, Andreas, Kolskår, Knut, Koops, Sanne, Krug, Axel, Lim, Kelvin O., Luykx, Jurjen J., Mathalon, Daniel H., Mattay, Venkata S., Matthews, Sarah, Van Son, Jaqueline Mayoral, McEwen, Sarah C., Melle, Ingrid, Morris, Derek W., Mueller, Bryon A., Nauck, Matthias, Nordvik, Jan E., Nöthen, Markus M., O’Leary, Daniel S., Opel, Nils, Martinot, Marie - Laure Paillère, Pike, G. Bruce, Preda, Adrian, Quinlan, Erin B., Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M., Torres, Fábio R., Veltman, Dick J., Voyvodic, James T., Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Alvim, Marina K.M., Anderson, Tim J., Andreassen, Ole A., Arias-Vasquez, Alejandro, Bastin, Mark E., Baune, Bernhard T., Blangero, John, Boomsma, Dorret I., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bustillo, Juan R., Cahn, Wiepke, Calhoun, Vince, Caseras, Xavier, Caspers, Svenja, Cavalleri, Gianpiero L., Cendes, Fernando, Corvin, Aiden, Crespo-Facorro, Benedicto, Dalrymple-Alford, John C., Dannlowski, Udo, de Geus, Eco J.C., Deary, Ian J., Delanty, Norman, Depondt, Chantal, Desrivières, Sylvane, Donohoe, Gary, Espeseth, Thomas, Fernández, Guillén, Fisher, Simon E., Flor, Herta, Forstner, Andreas J., Francks, Clyde, Franke, Barbara, Glahn, David C., Gollub, Randy L., Grabe, Hans J., Gruber, Oliver, Håberg, Asta K., Hariri, Ahmad R., Hartman, Catharina A., Hashimoto, Ryota, Heinz, Andreas, Hillegers, Manon H.J., Hoekstra, Pieter J., Holmes, Avram J., Hong, L. Elliot, Hopkins, William D., Hulshoff Pol, Hilleke E., Jernigan, Terry L., Jönsson, Erik G., Kahn, René S., Kennedy, Martin A., Kircher, Tilo T.J., Kochunov, Peter, Kwok, John B.J., Le Hellard, Stephanie, Martin, Nicholas G., Martinot, Jean - Luc, McDonald, Colm, McMahon, Katie L., Meyer-Lindenberg, Andreas, Morey, Rajendra A., Nyberg, Lars, Oosterlaan, Jaap, Ophoff, Roel A., Penninx, Brenda W.J.H., Polderman, Tinca J.C., Posthuma, Danielle, Rietschel, Marcella, Roffman, Joshua L., Rowland, Laura M., Sämann, Philipp G., Schumann, Gunter, Sim, Kang, Sisodiya, Sanjay M., Smoller, Jordan W., Sommer, Iris E., St Pourcain, Beate, Stein, Dan J., Toga, Arthur W., Van der Wee, Nic J.A., van’t Ent, Dennis, Völzke, Henry, Walter, Henrik, Weber, Bernd, Weinberger, Daniel R., Zhou, Juan, Stein, Jason L., Thompson, Paul M., Medland, Sarah E., ENIGMA Consortium, and neuroCHARGE Working Group
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0303 health sciences ,DAAM1 ,Locus (genetics) ,Single-nucleotide polymorphism ,Biology ,Lateral geniculate nucleus ,Phenotype ,Chromosome 17 (human) ,03 medical and health sciences ,0302 clinical medicine ,Visual cortex ,medicine.anatomical_structure ,Cerebral cortex ,medicine ,Neuroscience ,030217 neurology & neurosurgery ,030304 developmental biology - Abstract
The radial unit hypothesis provides a framework for global (proliferation) and regional (distribution) expansion of the primate cerebral cortex. Using principal component analysis (PCA), we have identified cortical regions with shared variance in their surface area and cortical thickness, respectively, segmented from magnetic resonance images obtained in 23,800 participants. We then carried out meta-analyses of genome-wide association studies of the first two principal components for each phenotype. For surface area (but not cortical thickness), we have detected strong associations between each of the components and single nucleotide polymorphisms in a number of gene loci. The first (global) component was associated mainly with loci on chromosome 17 (9.5e-32 ≤ p ≤ 2.8e-10), including those detected previously as linked with intracranial volume and/or general cognitive function. The second (regional) component captured shared variation in the surface area of the primary and adjacent secondary visual cortices and showed a robust association with polymorphisms in a locus on chromosome 14 containing Disheveled Associated Activator of Morphogenesis 1 (DAAM1; p=2.4e-34). DAAM1 is a key component in the planar-cell-polarity signaling pathway. In follow-up studies, we have focused on the latter finding and established that: (1) DAAM1 is highly expressed between 12th and 22nd post-conception weeks in the human cerebral cortex; (2) genes co-expressed with DAAM1 in the primary visual cortex are enriched in mitochondria-related pathways; and (3) volume of the lateral geniculate nucleus, which projects to regions of the visual cortex staining for cytochrome oxidase (a mitochondrial enzyme), correlates with the surface area of the visual cortex in major-allele homozygotes but not in carriers of the minor allele. Altogether, we speculate that, in concert with thalamocortical input to cortical subplate, DAAM1 enables migration of neurons to cytochrome-oxidase rich regions of the visual cortex, and, in turn, facilitates regional expansion of this set of cortical regions during development.
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- 2018
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8. Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
- Author
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Whelan, Christopher D., Altmann, Andre, Botía, Juan A., Jahanshad, Neda, Hibar, Derrek P., Absil, Julie, Alhusaini, Saud, Alvim, Marina K.M., Auvinen, Pia, Bartolini, Emanuele, Bergo, Felipe P.G., Bernardes, Tauana, Blackmon, Karen, Braga, Barbara, Caligiuri, Maria Eugenia, Calvo, Anna, Carr, Sarah J., Chen, Jian, Chen, Shuai, Cherubini, Andrea, David, Philippe, Domin, Martin, Foley, Sonya, França, Wendy, Haaker, Gerrit, Isaev, Dmitry, Keller, Simon S., Kotikalapudi, Raviteja, Kowalczyk, Magdalena A., Kuzniecky, Ruben, Langner, Soenke, Lenge, Matteo, Leyden, Kelly M., Liu, Min, Loi, Richard Q., Martin, Pascal, Mascalchi, Mario, Morita, Marcia E., Pariente, Jose C., Rodríguez-Cruces, Raul, Rummel, Christian, Saavalainen, Taavi, Semmelroch, Mira K., Severino, Mariasavina, Thomas, Rhys H., Tondelli, Manuela, Tortora, Domenico, Vaudano, Anna Elisabetta, Vivash, Lucy, Von Podewils, Felix, Wagner, Jan, Weber, Bernd, Yao, Yi, Yasuda, Clarissa L., Zhang, Guohao, Bargalló, Nuria, Bender, Benjamin, Bernasconi, Neda, Bernasconi, Andrea, Bernhardt, Boris C., Blümcke, Ingmar, Carlson, Chad, Cavalleri, Gianpiero L., Cendes, Fernando, Concha, Luis, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin P., Focke, Niels K., Gambardella, Antonio, Guerrini, Renzo, and Hamandi, Khalid
- Subjects
thalamus ,epilepsy ,MRI ,precentral gyrus - Abstract
Progressive functional decline in the epilepsies is largely unexplained. We formed the ENIGMA-Epilepsy consortium to understand factors that influence brain measures in epilepsy, pooling data from 24 research centres in 14 countries across Europe, North and South America, Asia, and Australia. Structural brain measures were extracted from MRI brain scans across 2149 individuals with epilepsy, divided into four epilepsy subgroups including idiopathic generalized epilepsies (n =367), mesial temporal lobe epilepsies with hippocampal sclerosis (MTLE; left, n = 415; right, n = 339), and all other epilepsies in aggregate (n = 1026), and compared to 1727 matched healthy controls. We ranked brain structures in order of greatest differences between patients and controls, by meta-Analysing effect sizes across 16 subcortical and 68 cortical brain regions. We also tested effects of duration of disease, age at onset, and age-by-diagnosis interactions on structural measures. We observed widespread patterns of altered subcortical volume and reduced cortical grey matter thickness. Compared to controls, all epilepsy groups showed lower volume in the right thalamus (Cohen's d = â '0.24 to â '0.73; P < 1.49 × 10 â '4), and lower thickness in the precentral gyri bilaterally (d = â '0.34 to â '0.52; P < 4.31 × 10 â '6). Both MTLE subgroups showed profound volume reduction in the ipsilateral hippocampus (d = â '1.73 to â '1.91, P < 1.4 × 10 â '19), and lower thickness in extrahippocampal cortical regions, including the precentral and paracentral gyri, compared to controls (d = â '0.36 to â '0.52; P < 1.49 × 10 â '4). Thickness differences of the ipsilateral temporopolar, parahippocampal, entorhinal, and fusiform gyri, contralateral pars triangularis, and bilateral precuneus, superior frontal and caudal middle frontal gyri were observed in left, but not right, MTLE (d = â '0.29 to â '0.54; P < 1.49 × 10 â '4). Contrastingly, thickness differences of the ipsilateral pars opercularis, and contralateral transverse temporal gyrus, were observed in right, but not left, MTLE (d = â '0.27 to â '0.51; P < 1.49 × 10 â '4). Lower subcortical volume and cortical thickness associated with a longer duration of epilepsy in the all-epilepsies, all-other-epilepsies, and right MTLE groups (beta, b < â '0.0018; P < 1.49 × 10 â '4). In the largest neuroimaging study of epilepsy to date, we provide information on the common epilepsies that could not be realistically acquired in any other way. Our study provides a robust ranking of brain measures that can be further targeted for study in genetic and neuropathological studies. This worldwide initiative identifies patterns of shared grey matter reduction across epilepsy syndromes, and distinctive abnormalities between epilepsy syndromes, which inform our understanding of epilepsy as a network disorder, and indicate that certain epilepsy syndromes involve more widespread structural compromise than previously assumed.
- Published
- 2018
9. Sleep onset uncovers thalamic abnormalities in patients with idiopathic generalised epilepsy
- Author
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Bagshaw, Andrew P., primary, Hale, Joanne R., additional, Campos, Brunno M., additional, Rollings, David T., additional, Wilson, Rebecca S., additional, Alvim, Marina K.M., additional, Coan, Ana Carolina, additional, and Cendes, Fernando, additional
- Published
- 2017
- Full Text
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