Resultados da busca - Christine Ioos

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  1. 1
    MUSK, a new target for mutations causing congenital myasthenic syndrome

    MUSK, a new target for mutations causing congenital myasthenic syndrome por Frédéric Chevessier, Brice Faraut, Aymeric Ravel‐Chapuis, Pascale Richard, Karen Gaudon, Stéphanie Bauché, Cassandra Prioleau, Ruth Herbst, Evelyne Goillot, Christine Ioos, Jean‐Philippe Azulay, Shahram Attarian, Jean‐Paul Leroy, Emmanuel Fournier, Claire Legay, Laurent Schaeffer, Jeanine Koenig, Michel Fardeau, B. Eymard, Jean Pouget, Daniel Hantaı̈

    Publicado em 2004
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  2. 2
    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient por Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leïla Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean‐Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

    Publicado em 2012
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  3. 3
    Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

    Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy por Sophie Nicole, Amina Chaouch, T. Torbergsen, Stéphanie Bauché, Elodie De Bruyckere, Marie‐Joséphine Fontenille, Morten Andreas Horn, Marijke Van Ghelue, Sissel Løseth, Yasmin Issop, Dan Cox, Juliane Müller, Teresinha Evangelista, Erik Stålberg, Christine Ioos, A Barois, Guy Brochier, Damien Sternberg, Emmanuel Fournier, Daniel Hantaı̈, Angela Abicht, Marina Dusl, Steven H. Laval, Helen Griffin, B. Eymard, Hanns Lochmüller

    Publicado em 2014
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  4. 4
    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients por Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

    Publicado em 2018
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