Search Results - Bouchet-seraphin, Céline

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  1. 1
    ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

    ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan by Gerin, Isabelle, Ury, Benoît, Breloy, Isabelle, Bouchet-Seraphin, Céline, Bolsée, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T.

    Published in Nature communications
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  2. 2
    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly by Vuillaumier-Barrot, Sandrine, Bouchet-Séraphin, Céline, Chelbi, Malika, Devisme, Louise, Quentin, Samuel, Gazal, Steven, Laquerrière, Annie, Fallet-Bianco, Catherine, Loget, Philippe, Odent, Sylvie, Carles, Dominique, Bazin, Anne, Aziza, Jacqueline, Clemenson, Alix, Guimiot, Fabien, Bonnière, Maryse, Monnot, Sophie, Bole-Feysot, Christine, Bernard, Jean-Pierre, Loeuillet, Laurence, Gonzales, Marie, Socha, Koryna, Grandchamp, Bernard, Attié-Bitach, Tania, Encha-Razavi, Férechté, Seta, Nathalie

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  3. 3
    A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

    A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing by Krahn, Martin, Biancalana, Valérie, Cerino, Mathieu, Perrin, Aurélien, Michel-Calemard, Laurence, Nectoux, Juliette, Leturcq, France, Bouchet-Séraphin, Céline, Acquaviva-Bourdain, Cécile, Campana-Salort, Emmanuelle, Molon, Annamaria, Urtizberea, Jon Andoni, Audic, Frédérique, Chabrol, Brigitte, Pouget, Jean, Froissart, Roseline, Melki, Judith, Rendu, John, Petit, François, Métay, Corinne, Seta, Nathalie, Sternberg, Damien, Fauré, Julien, Cossée, Mireille

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  4. 4
    ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto [alpha]-dystroglycan

    ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto [alpha]-dystroglycan by Gerin, Isabelle, Ury, Benoît, Breloy, Isabelle, Bouchet-seraphin, Céline, Bolsée, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G, Seta, Nathalie, Cuisset, Jean-marie, Dabaj, Ivana, Quijano-roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T

    Published in Nature communications
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  5. 5
    Cortical heterotopia in LGMD2I

    Cortical heterotopia in LGMD2I by Renard, Dimitri, Fernandez, Carla, Bouchet-Seraphin, Celine, Labauge, Pierre

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