Resultados da pesquisa - Leguern, Eric

Genetics of inherited human epilepsies Por Gourfinkel-An, Isabelle, Baulac, Stéphanie, Brice, Alexis, Leguern, Eric, Baulac, Michel

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Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? Por Amiet, Claire, Gourfinkel-An, Isabelle, Laurent, Claudine, Bodeau, Nicolas, Génin, Bérengère, Leguern, Eric, Tordjman, Sylvie, Cohen, David

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Epilepsy Gene LGI1 Regulates Postnatal Developmental Remodeling of Retinogeniculate Synapses Por Zhou, Yu-Dong, Zhang, Dawei, Ozkaynak, Ekim, Wang, Xuan, Kasper, Ekkehard M., Leguern, Eric, Baulac, Stéphanie, Anderson, Matthew P.

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Depdc5 knockdown causes mTOR‐dependent motor hyperactivity in zebrafish Por de Calbiac, Hortense, Dabacan, Adriana, Marsan, Elise, Tostivint, Hervé, Devienne, Gabrielle, Ishida, Saeko, Leguern, Eric, Baulac, Stéphanie, Muresan, Raul C., Kabashi, Edor, Ciura, Sorana

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Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy Por Ribierre, Théo, Deleuze, Charlotte, Bacq, Alexandre, Baldassari, Sara, Marsan, Elise, Chipaux, Mathilde, Muraca, Giuseppe, Roussel, Delphine, Navarro, Vincent, Leguern, Eric, Miles, Richard, Baulac, Stéphanie

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Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism Por Couarch, Philippe, Vernia, Santiago, Gourfinkel-An, Isabelle, Lesca, Gaëtan, Gataullina, Svetlana, Fedirko, Estelle, Trouillard, Oriane, Depienne, Christel, Dulac, Olivier, Steschenko, Dominique, Leguern, Eric, Sanz, Pascual, Baulac, Stéphanie

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Epilepsy Caused by an Abnormal Alternative Splicing with Dosage Effect of the SV2A Gene in a Chicken Model Por Douaud, Marine, Feve, Katia, Pituello, Fabienne, Gourichon, David, Boitard, Simon, Leguern, Eric, Coquerelle, Gérard, Vieaud, Agathe, Batini, Cesira, Naquet, Robert, Vignal, Alain, Tixier-Boichard, Michèle, Pitel, Frédérique

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Genome-Wide High-Resolution aCGH Analysis of Gestational Choriocarcinomas Por Poaty, Henriette, Coullin, Philippe, Peko, Jean Félix, Dessen, Philippe, Diatta, Ange Lucien, Valent, Alexander, Leguern, Eric, Prévot, Sophie, Gombé-Mbalawa, Charles, Candelier, Jean-Jacques, Picard, Jean-Yves, Bernheim, Alain

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Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures Por Boillot, Morgane, Huneau, Clément, Marsan, Elise, Lehongre, Katia, Navarro, Vincent, Ishida, Saeko, Dufresnois, Béatrice, Ozkaynak, Ekim, Garrigue, Jérôme, Miles, Richard, Martin, Benoit, Leguern, Eric, Anderson, Matthew P., Baulac, Stéphanie

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Mutations of DEPDC5 cause autosomal dominant focal epilepsies Por Ishida, Saeko, Picard, Fabienne, Rudolf, Gabrielle, Noé, Eric, Achaz, Guillaume, Thomas, Pierre, Genton, Pierre, Mundwiller, Emeline, Wolff, Markus, Marescaux, Christian, Miles, Richard, Baulac, Michel, Hirsch, Edouard, Leguern, Eric, Baulac, Stéphanie

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Evidence of mosaicism in SPAST variant carriers in four French families Por Angelini, Chloé, Goizet, Cyril, Said, Samia Ait, Camu, William, Depienne, Christel, Heron, Bénédicte, Kol, Bophara, Guillaud-Bataille, Marine, Pennamen, Perrine, Rooryck, Caroline, Scherer-Gagou, Clarisse, Tissier, Laurène, Stevanin, Giovanni, Leguern, Eric, Banneau, Guillaume

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Novel GABRG2 mutations cause familial febrile seizures Por Boillot, Morgane, Morin-Brureau, Mélanie, Picard, Fabienne, Weckhuysen, Sarah, Lambrecq, Virginie, Minetti, Carlo, Striano, Pasquale, Zara, Federico, Iacomino, Michele, Ishida, Saeko, An-Gourfinkel, Isabelle, Daniau, Mailys, Hardies, Katia, Baulac, Michel, Dulac, Olivier, Leguern, Eric, Nabbout, Rima, Baulac, Stéphanie

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Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy Por Dahawi, Maha, Elmagzoub, Mohamed S., A. Ahmed, Elhami, Baldassari, Sara, Achaz, Guillaume, Elmugadam, Fatima A., Abdelgadir, Wasma A., Baulac, Stéphanie, Buratti, Julien, Abdalla, Omer, Gamil, Sahar, Alzubeir, Maha, Abubaker, Rayan, Noé, Eric, Elsayed, Liena, Ahmed, Ammar E., Leguern, Eric

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A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing Por Benquey, Thibaut, Pion, Emmanuelle, Cossée, Mireille, Krahn, Martin, Stojkovic, Tanya, Perrin, Aurélien, Cerino, Mathieu, Molon, Annamaria, Lia, Anne-Sophie, Magdelaine, Corinne, Francou, Bruno, Guiochon-Mantel, Anne, Malinge, Marie-Claire, Leguern, Eric, Lévy, Nicolas, Attarian, Shahram, Latour, Philippe, Bonello-Palot, Nathalie

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Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria Por Baulac, Stéphanie, Lenk, Guy M., Dufresnois, Béatrice, Ouled Amar Bencheikh, Bouchra, Couarch, Philippe, Renard, Julie, Larson, Peter A., Ferguson, Cole J., Noé, Eric, Poirier, Karine, Hubans, Christine, Ferreira, Stéphanie, Guerrini, Renzo, Ouazzani, Reda, El Hachimi, Khalid Hamid, Meisler, Miriam H., Leguern, Eric

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LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2 Por Peretti, Alessia, Perie, Maud, Vincent, Didier, Bouhour, Françoise, Dieterich, Klaus, Mallaret, Martial, Duval, Fanny, Goizet, Cyril, Juntas-Morales, Raul, Magy, Laurent, Solé, Guilhem, Nollet, Sylvain, Not, Adeline, Léonard-Louis, Sarah, Francou, Bruno, Leguern, Eric, Lia, Anne-Sophie, Magdelaine, Corinne, Latour, Philippe, Stojkovic, Tanya

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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy Por Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H.G., Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M., Baulac, Stéphanie

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly Por Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer, Afawi, Zaid, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Depienne, Christel, De Kovel, Carolien G.F., Dimova, Petia, Guerrero-López, Rosa, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jahn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose M., Møller, Rikke S., Stephani, Ulrich, Striano, Pasquale, Talvik, Tiina, Von Spiczak, Sarah, Weber, Yvonne, Zara, Federico

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Pitfalls in genetic testing: the story of missed SCN1A mutations Por Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., de Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, van Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, Suls, Arvid

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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 Por Corbett, Mark A., Kroes, Thessa, Veneziano, Liana, Bennett, Mark F., Florian, Rahel, Schneider, Amy L., Coppola, Antonietta, Licchetta, Laura, Franceschetti, Silvana, Suppa, Antonio, Wenger, Aaron, Mei, Davide, Pendziwiat, Manuela, Kaya, Sabine, Delledonne, Massimo, Straussberg, Rachel, Xumerle, Luciano, Regan, Brigid, Crompton, Douglas, van Rootselaar, Anne-Fleur, Correll, Anthony, Catford, Rachael, Bisulli, Francesca, Chakraborty, Shreyasee, Baldassari, Sara, Tinuper, Paolo, Barton, Kirston, Carswell, Shaun, Smith, Martin, Berardelli, Alfredo, Carroll, Renee, Gardner, Alison, Friend, Kathryn L., Blatt, Ilan, Iacomino, Michele, Di Bonaventura, Carlo, Striano, Salvatore, Buratti, Julien, Keren, Boris, Nava, Caroline, Forlani, Sylvie, Rudolf, Gabrielle, Hirsch, Edouard, Leguern, Eric, Labauge, Pierre, Balestrini, Simona, Sander, Josemir W., Afawi, Zaid, Helbig, Ingo, Ishiura, Hiroyuki, Tsuji, Shoji, Sisodiya, Sanjay M., Casari, Giorgio, Sadleir, Lynette G., van Coller, Riaan, Tijssen, Marina A. J., Klein, Karl Martin, van den Maagdenberg, Arn M. J. M., Zara, Federico, Guerrini, Renzo, Berkovic, Samuel F., Pippucci, Tommaso, Canafoglia, Laura, Bahlo, Melanie, Striano, Pasquale, Scheffer, Ingrid E., Brancati, Francesco, Depienne, Christel, Gecz, Jozef

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