檢索結果 - Oriane Trouillard

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  1. 1
    <i>ADCY5</i> mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

    <i>ADCY5</i> mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias 由 Jennifer Friedman, Aurélie Méneret, Donghui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H. Raskind, Emmanuel Roze

    出版 2015
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  2. 2
    Autism, language delay and mental retardation in a patient with 7q11 duplication

    Autism, language delay and mental retardation in a patient with 7q11 duplication 由 Christel Depienne, Delphine Héron, Catalina Betancur, B Benyahia, Oriane Trouillard, Delphine Bouteiller, Alain Verloès, Eric LeGuern, Marion Leboyer, Alexis Brice

    出版 2007
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  3. 3
    Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

    Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy 由 Christel Depienne, Alexis Arzimanoglou, Oriane Trouillard, Estelle Fédirko, Stéphanie Baulac, Cécile Saint‐Martin, Merle Ruberg, Charlotte Dravet, Rima Nabbout, Michel Baulac, Isabelle Gourfinkel‐An, Eric Leguern

    出版 2006
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  4. 4
    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients 由 Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel‐An, Aurélia Jacquette, Benoı̂t Arveiler, Fanny Morice‐Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric Leguern, Christel Depienne, Delphine Héron

    出版 2011
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  5. 5
    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome 由 Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel‐An, Cécile Saint‐Martin, Delphine Bouteiller, Denis Graber, Marie‐Anne Barthez‐Carpentier, Agnès Gautier, Nathalie Villeneuve, Charlotte Dravet, Marie-Odile Livet, Clotilde Rivier-Ringenbach, Claude Adam, Sabrina Dupont, Stéphanie Baulac, Delphine Héron, Rima Nabbout, Eric Leguern

    出版 2010
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  6. 6
    The supplementary motor area modulates interhemispheric interactions during movement preparation

    The supplementary motor area modulates interhemispheric interactions during movement preparation 由 Quentin Welniarz, Cécile Gallea, Jean‐Charles Lamy, Aurélie Méneret, Traian Popa, Romain Valabrègue, Benoît Béranger, Vanessa Brochard, Constance Flamand‐Roze, Oriane Trouillard, Cécilia Bonnet, Norbert Brüggemann, Pierre Bitoun, Bertrand Degos, Cécile Hubsch, Élodie Hainque, Jean‐Louis Golmard, Marie Vidailhet, Stéphane Lehéricy, Isabelle Dusart, Sabine Meunier, Emmanuel Roze

    出版 2019
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  7. 7
    Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

    Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders 由 Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron, Delphine Bouteiller, Aurélie Gennetier, Richard Delorme, Pauline Chaste, Jean‐Pierre Siffroi, Sandra Chantot‐Bastaraud, B Benyahia, Oriane Trouillard, Gudrun Nygren, Svenny Kopp, Maria Johansson, Maria Råstam, Lydie Bürglen, Eric Leguern, Alain Verloès, Marion Leboyer, Alexis Brice, Christopher Gillberg, Catalina Betancur

    出版 2009
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  8. 8
    Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

    Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females 由 Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, B Benyahia, Chloé Quēlin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi‐Buisson, Isabelle Gourfinkel‐An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric Leguern

    出版 2009
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  9. 9
    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females 由 Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel‐An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman‐Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, A. Dusser, Marie Bru, Brigitte Gilbert‐Dussardier, Agathe Roubertie, Anna Kaminśka, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaëtan Lesca, Alexis Arzimanoglou, Eric Leguern

    出版 2010
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  10. 10
    Mutations in the netrin-1 gene cause congenital mirror movements

    Mutations in the netrin-1 gene cause congenital mirror movements 由 Aurélie Méneret, Elizabeth A. Franz, Oriane Trouillard, Thomas Oliver, Yvrick Zagar, Stephen P. Robertson, Quentin Welniarz, R. J. M. Gardner, Cécile Gallea, Myriam Srour, Christel Depienne, Christine L. Jasoni, Caroline Dubacq, Florence Riant, Jean‐Charles Lamy, Marie‐Pierre Morel, Raphaël Guérois, Jessica Andréani, Coralie Fouquet, Mohamed Doulazmi, Marie Vidailhet, Guy A. Rouleau, Alexis Brice, Alain Chédotal, Isabelle Dusart, Emmanuel Roze, David Markie

    出版 2017
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  11. 11
    Congenital mirror movements

    Congenital mirror movements 由 Aurélie Méneret, Christel Depienne, Florence Riant, Oriane Trouillard, Delphine Bouteiller, M. Cincotta, Pierre Bitoun, Julia Wickert, Lagroua Isabelle, Ana Westenberger, Alessandra Borgheresi, Diane Doummar, Marcello Romano, Símone Rossi, Luc Defebvre, Linda De Meırleır, Alberto J. Espay, Simona Fiori, Stephan Klebe, Chloé Quēlin, Sabine Rudnik–Schöneborn, Ghislaine Plessis, Russell C. Dale, Susan Sklower Brooks, Karolina Dzieżyc, Pierre Pollak, Jean‐Louis Golmard, Marie Vidailhet, Alexis Brice, Emmanuel Roze

    出版 2014
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  12. 12
    <i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

    <i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome 由 Ashley P.L. Marsh, Timothy J. Edwards, Charles A. Galea, Helen Cooper, Elizabeth C. Engle, Saumya Shekhar Jamuar, Aurélie Méneret, Marie‐Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy A. Rouleau, Emmanuel Roze, Megan Spencer‐Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A. Walsh, Timothy W. Yu, Delphine Héron, Elliott H. Sherr, Linda J. Richards, Christel Depienne, Richard J. Leventer, Paul J. Lockhart

    出版 2017
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  13. 13
    <i>ADCY5</i> -related dyskinesia

    <i>ADCY5</i> -related dyskinesia 由 Donghui Chen, Aurélie Méneret, Jennifer Friedman, Olena Korvatska, Alona Gad, Emily Bonkowski, Holly A.F. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y. Davis, Nathalie Damon‐Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M. Hisama, Katherine M. Mackenzie, Phillip D. Swanson, Christine Tranchant, Marie Vidailhet, Steven P. Winesett, Oriane Trouillard, Laura M. Amendola, Michael O. Dorschner, Michael D. Weiss, Evan E. Eichler, Ali Torkamani, Emmanuel Roze, Thomas D. Bird, Wendy H. Raskind

    出版 2015
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  14. 14
    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance 由 Ashley P.L. Marsh, Delphine Héron, Timothy J. Edwards, Angélique Quartier, Charles A. Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Cathérine Garel, Greta Gillies, Ilan Gobius, Justine Guégan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukić, Simone Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail Robinson, Megan Spencer‐Smith, Myriam Srour, Sarah Stephenson, Rick M. Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy A. Rouleau, Tania Attié‐Bitach, Martin B. Delatycki, Jean‐Louis Mandel, David J. Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H. Sherr, Richard J. Leventer, Linda J. Richards, Paul J. Lockhart, Christel Depienne

    出版 2017
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