Výsledky vyhledávání - Szepetowski, Pierre

Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit Autor Sibarov, Dmitry A., Bruneau, Nadine, Antonov, Sergei M., Szepetowski, Pierre, Burnashev, Nail, Giniatullin, Rashid

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The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric K(Na)1.1... Autor Mao, Xiao, Bruneau, Nadine, Gao, Quwen, Becq, Hélène, Jia, Zhengjun, Xi, Hui, Shu, Li, Wang, Hua, Szepetowski, Pierre, Aniksztejn, Laurent

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Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex Autor Roll, Patrice, Vernes, Sonja C., Bruneau, Nadine, Cillario, Jennifer, Ponsole-Lenfant, Magali, Massacrier, Annick, Rudolf, Gabrielle, Khalife, Manal, Hirsch, Edouard, Fisher, Simon E., Szepetowski, Pierre

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Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas Autor Royer, Barbara, Soares, Dinesh C, Barlow, Paul N, Bontrop, Ronald E, Roll, Patrice, Robaglia-Schlupp, Andrée, Blancher, Antoine, Levasseur, Anthony, Cau, Pierre, Pontarotti, Pierre, Szepetowski, Pierre

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Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders Autor Huguet, Guillaume, Nava, Caroline, Lemière, Nathalie, Patin, Etienne, Laval, Guillaume, Ey, Elodie, Brice, Alexis, Leboyer, Marion, Szepetowski, Pierre, Gillberg, Christopher, Depienne, Christel, Delorme, Richard, Bourgeron, Thomas

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Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse Autor De Sandre-Giovannoli, Annachiara, Chaouch, Malika, Kozlov, Serguei, Vallat, Jean-Michel, Tazir, Meriem, Kassouri, Nadia, Szepetowski, Pierre, Hammadouche, Tarik, Vandenberghe, Antoon, Stewart, Colin L., Grid, Djamel, Lévy, Nicolas

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Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome Autor Caraballo, Roberto, Pavek, Sylvana, Lemainque, Arnaud, Gastaldi, Marguerite, Echenne, Bernard, Motte, Jacques, Genton, Pierre, Cersósimo, Ricardo, Humbertclaude, Véronique, Fejerman, Natalio, Monaco, Anthony P., Lathrop, Mark G., Rochette, Jacques, Szepetowski, Pierre

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Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11 Autor Roll, Patrice, Sanlaville, Damien, Cillario, Jennifer, Labalme, Audrey, Bruneau, Nadine, Massacrier, Annick, Délepine, Marc, Dessen, Philippe, Lazar, Vladimir, Robaglia-Schlupp, Andrée, Lesca, Gaëtan, Jouve, Elisabeth, Rudolf, Gabrielle, Rochette, Jacques, Lathrop, G. Mark, Szepetowski, Pierre

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Functional Variant in Complement C3 Gene Promoter and Genetic Susceptibility to Temporal Lobe Epilepsy and Febrile Seizures Autor Jamali, Sarah, Salzmann, Annick, Perroud, Nader, Ponsole-Lenfant, Magali, Cillario, Jennifer, Roll, Patrice, Roeckel-Trevisiol, Nathalie, Crespel, Ariel, Balzar, Jorg, Schlachter, Kurt, Gruber-Sedlmayr, Ursula, Pataraia, Ekaterina, Baumgartner, Christoph, Zimprich, Alexander, Zimprich, Fritz, Malafosse, Alain, Szepetowski, Pierre

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In Utero Administration of Drugs Targeting Microglia Improves the Neurodevelopmental Outcome Following Cytomegalovirus Infection of the Rat Fetal Brain Autor Cloarec, Robin, Bauer, Sylvian, Teissier, Natacha, Schaller, Fabienne, Luche, Hervé, Courtens, Sandra, Salmi, Manal, Pauly, Vanessa, Bois, Emilie, Pallesi-Pocachard, Emilie, Buhler, Emmanuelle, Michel, François J., Gressens, Pierre, Malissen, Marie, Stamminger, Thomas, Streblow, Daniel N., Bruneau, Nadine, Szepetowski, Pierre

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Cytomegalovirus Infection of the Rat Developing Brain In Utero Prominently Targets Immune Cells and Promotes Early Microglial Activation Autor Cloarec, Robin, Bauer, Sylvian, Luche, Hervé, Buhler, Emmanuelle, Pallesi-Pocachard, Emilie, Salmi, Manal, Courtens, Sandra, Massacrier, Annick, Grenot, Pierre, Teissier, Natacha, Watrin, Françoise, Schaller, Fabienne, Adle-Biassette, Homa, Gressens, Pierre, Malissen, Marie, Stamminger, Thomas, Streblow, Daniel N., Bruneau, Nadine, Szepetowski, Pierre

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PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine Autor Cloarec, Robin, Bruneau, Nadine, Rudolf, Gabrielle, Massacrier, Annick, Salmi, Manal, Bataillard, Marc, Boulay, Clotilde, Caraballo, Roberto, Fejerman, Natalio, Genton, Pierre, Hirsch, Edouard, Hunter, Alasdair, Lesca, Gaetan, Motte, Jacques, Roubertie, Agathe, Sanlaville, Damien, Wong, Sau-Wei, Fu, Ying-Hui, Rochette, Jacques, Ptáček, Louis J., Szepetowski, Pierre

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GRIN2A mutations cause epilepsy-aphasia spectrum disorders Autor Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O’Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Samantha J, Tsai, Meng-Han, Webster, Richard, Ouvrier, Robert, Damiano, John A, Berkovic, Samuel F, Shendure, Jay, Hildebrand, Michael S, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C

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Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions Autor Lee, Hsien-Yang, Huang, Yong, Bruneau, Nadine, Roll, Patrice, Roberson, Elisha D.O., Hermann, Mark, Quinn, Emily, Maas, James, Edwards, Robert, Ashizawa, Tetsuo, Baykan, Betul, Bhatia, Kailash, Bressman, Susan, Bruno, Michiko K., Brunt, Ewout R., Caraballo, Roberto, Echenne, Bernard, Fejerman, Natalio, Frucht, Steve, Gurnett, Christina A., Hirsch, Edouard, Houlden, Henry, Jankovic, Joseph, Lee, Wei-Ling, Lynch, David R., Mohamed, Shehla, Müller, Ulrich, Nespeca, Mark P., Renner, David, Rochette, Jacques, Rudolf, Gabrielle, Saiki, Shinji, Soong, Bing-Wen, Swoboda, Kathryn J., Tucker, Sam, Wood, Nicholas, Hanna, Michael, Bowcock, Anne, Szepetowski, Pierre, Fu, Ying-Hui, Ptáček, Louis J.

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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Autor Rudolf, Gabrielle, Lesca, Gaetan, Mehrjouy, Mana M, Labalme, Audrey, Salmi, Manal, Bache, Iben, Bruneau, Nadine, Pendziwiat, Manuela, Fluss, Joel, de Bellescize, Julitta, Scholly, Julia, Møller, Rikke S, Craiu, Dana, Tommerup, Niels, Valenti-Hirsch, Maria Paola, Schluth-Bolard, Caroline, Sloan-Béna, Frédérique, Helbig, Katherine L, Weckhuysen, Sarah, Edery, Patrick, Coulbaut, Safia, Abbas, Mohamed, Scheffer, Ingrid E, Tang, Sha, Myers, Candace T, Stamberger, Hannah, Carvill, Gemma L, Shinde, Deepali N, Mefford, Heather C, Neagu, Elena, Huether, Robert, Lu, Hsiao-Mei, Dica, Alice, Cohen, Julie S, Iliescu, Catrinel, Pomeran, Cristina, Rubenstein, James, Helbig, Ingo, Sanlaville, Damien, Hirsch, Edouard, Szepetowski, Pierre

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