Výsledky vyhledávání - Pierre Szepetowski

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  1. 1
    From rolandic epilepsy to continuous spike‐and‐waves during sleep and Landau‐Kleffner syndromes: Insights into possible genetic factors

    From rolandic epilepsy to continuous spike‐and‐waves during sleep and Landau‐Kleffner syndromes: Insights into possible genetic factors Autor Gabrielle Rudolf, Maria Paola Valenti, Édouard Hirsch, Pierre Szepetowski

    Vydáno 2009
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  2. 2
    A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene

    A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene Autor Fabienne Schaller, Françoise Watrin, Rachel Sturny, Annick Massacrier, Pierre Szepetowski, Françoise Muscatelli

    Vydáno 2010
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  3. 3
    Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16

    Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16 Autor Pierre Szepetowski, Jacques Rochette, Patrick Berquin, Charles Piussan, G.M. Lathrop, Anthony P. Monaco

    Vydáno 1997
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  4. 4
    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 KNa1.1/KNa1.2 Potassium Channel

    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 KNa1.1/K... Autor Xiao Mao, Nadine Bruneau, Quwen Gao, Hélène Becq, Zhengjun Jia, Hui Xi, Li Shu, Hua Wang, Pierre Szepetowski, Laurent Aniksztejn

    Vydáno 2020
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  5. 5
    Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

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

    Vydáno 2010
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  6. 6
    Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas

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

    Vydáno 2007
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  7. 7
    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

    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 Annachiara De Sandre‐Giovannoli, Malika Chaouch, Serguei Kozlov, Jean-Michel Vallat, Mériem Tazir, Nadia Kassouri, Pierre Szepetowski, T. Hammadouche, Antoon Vandenberghe, Colin L. Stewart, Djamel Grid, Nicolas Lévy

    Vydáno 2002
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  8. 8
    Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR

    Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR Autor Barbara Royer-Zemmour, Magali Ponsole-Lenfant, Hyam Gara, Patrice Roll, Christian Lévêque, Annick Massacrier, Géraldine Ferracci, Jennifer Cillario, Andrée Robaglia‐Schlupp, Renaud Vincentelli, Pierre Cau, Pierre Szepetowski

    Vydáno 2008
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  9. 9
    Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome

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

    Vydáno 2001
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  10. 10
    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism

    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism Autor Gaëtan Lesca, Gabrielle Rudolf, Audrey Labalme, Édouard Hirsch, Alexis Arzimanoglou, Pierre Genton, Jacques Motté, Anne de Saint Martin, Maria‐Paola Valenti, Clotilde Boulay, Julitta de Bellescize, Pascale Kéo‐Kosal, Nadia Boutry‐Kryza, Patrick Edery, Damien Sanlaville, Pierre Szepetowski

    Vydáno 2012
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  11. 11
    Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex

    Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex Autor Sarah Jamali, Fabrice Bartoloméi, Andrée Robaglia‐Schlupp, Annick Massacrier, J.C. Peragut, Jean Régis, H. Dufour, Rivka Ravid, Patrice Roll, Sandrine Pereira, Barbara Royer, Nathalie Roëckel-Trevisiol, Marc Fontaine, Maxime Guye, José Boucraut, Patrick Chauvel, Pierre Cau, Pierre Szepetowski

    Vydáno 2006
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  12. 12
    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i>

    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i> Autor Sarra Dimassi, Audrey Labalme, Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau, Édouard Hirsch, Alexis Arzimanoglou, Jacques Motté, Anne de Saint Martin, Nadia Boutry‐Kryza, Robin Cloarec, Afaf Benitto, Agnès Ameil, Patrick Edery, Philippe Ryvlin, Julitta de Bellescize, Pierre Szepetowski, Damien Sanlaville

    Vydáno 2013
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  13. 13
    <i>PRRT2</i> links infantile convulsions and paroxysmal dyskinesia with migraine

    <i>PRRT2</i> links infantile convulsions and paroxysmal dyskinesia with migraine Autor Robin Cloarec, Nadine Bruneau, Gabrielle Rudolf, Annick Massacrier, Manal Salmi, Marc Bataillard, Clotilde Boulay, Roberto Caraballo, Natalio Fejerman, Pierre Genton, Édouard Hirsch, Alasdair G. W. Hunter, Gaëtan Lesca, Jacques Motté, Agathe Roubertie, Damien Sanlaville, Sau-Wei Wong, Ying‐Hui Fu, Jacques Rochette, Louis J. Ptác̆ek, Pierre Szepetowski

    Vydáno 2012
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  14. 14
    Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero

    Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero Autor Manal Salmi, Nadine Bruneau, Jennifer Cillario, Natalia Lozovaya, Annick Massacrier, Emmanuelle Buhler, Robin Cloarec, Timur Tsintsadze, Françoise Watrin, Vera Tsintsadze, Céline Zimmer, Claude Villard, Daniel Lafitte, Carlos Cardoso, Lan Bao, Gaëtan Lesca, Gabrielle Rudolf, Françoise Muscatelli, Vanessa Pauly, Ilgam Khalilov, Pascale Durbec, Yehezkel Ben‐Ari, Nail Burnashev, Alfonso Represa, Pierre Szepetowski

    Vydáno 2013
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  15. 15
    GRIN2A mutations cause epilepsy-aphasia spectrum disorders

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

    Vydáno 2013
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  16. 16
    Idiopathic focal epilepsies: the “lost tribe”

    Idiopathic focal epilepsies: the “lost tribe” Autor Deb K. Pal, Colin D. Ferrie, Laura Addis, Tomoyuki Akiyama, Giuseppe Capovilla, Roberto Caraballo, Anne de Saint Martin, Natalio Fejerman, Renzo Guerrini, Khalid Hamandi, Ingo Helbig, Andreas A. Ioannides, Katsuhiro Kobayashi, Dennis Lal, Gaëtan Lesca, Hiltrud Muhle, Bernd A. Neubauer, Tiziana Pisano, Gabrielle Rudolf, Caroline Seegmüller, Takashi Shibata, Anna Smith, Pasquale Striano, Lisa J. Strug, Pierre Szepetowski, Thalia Valeta, Harumi Yoshinaga, Michalis Koutroumanidis

    Vydáno 2016
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  17. 17
    Epilepsy and mental retardation limited to females: an under-recognized disorder

    Epilepsy and mental retardation limited to females: an under-recognized disorder Autor Ingrid E. Scheffer, Samantha J. Turner, Leanne M. Dibbens, Marta A. Bayly, Kathryn Friend, Bree Hodgson, Linda Burrows, Marie Shaw, Wei Chen, Reinhard Ullmann, Hans‐Hilger Ropers, Pierre Szepetowski, Eric Haan, Aziz Mazarib, Zaid Afawi, Miriam Y. Neufeld, P. Ian Andrews, Geoffrey Wallace, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Christopher P. Derry, Amos D. Korczyn, Jozef Gécz, John C. Mulley, Samuel F. Berkovic

    Vydáno 2008
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  18. 18
    SRPX2 mutations in disorders of language cortex and cognition

    SRPX2 mutations in disorders of language cortex and cognition Autor Patrice Roll, Gabrielle Rudolf, Sandrine Pereira, Barbara Royer, Ingrid E. Scheffer, Annick Massacrier, Mp Valenti, N. Roeckel-Trevisol, Sara Jamali, Christophe Béclin, Caroline Seegmüller, Mn Metz-Lutz, Arnaud Lemainque, Marc Delépine, Christophe Caloustian, Anne de Saint Martin, Nadine Bruneau, D. Depétris, Marie‐Geneviève Mattéi, Elisabeth Flori, Andrée Robaglia‐Schlupp, Nicolas Lévy, Ba Neubauer, Rivka Ravid, Christian Marescaux, Samuel F. Berkovic, Édouard Hirsch, Mark Lathrop, P. Cau, Pierre Szepetowski

    Vydáno 2006
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  19. 19
    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

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

    Vydáno 2016
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  20. 20
    Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

    Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions Autor Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha Roberson, Mark Hermann, Emily A. Quinn, James B. Maas, Robert H. Edwards, Tetsuo Ashizawa, Betül Baykan, Kailash P. Bhatia, Susan Bressman, Michiko Kimura Bruno, E. R. Brunt, Roberto Caraballo, Bernard Échenne, Natalio Fejerman, Steven J. Frucht, Christina A. Gurnett, Édouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing‐Wen Soong, Kathryn J. Swoboda, S. Craig Tucker, Nicholas Wood, Michael G. Hanna, A. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček

    Vydáno 2012
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