检索结果 - Szepetowski, Pierre

Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit 由 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... 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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