Found: 7

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  • Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.

    Published in:
    2022
    By:
    • Durand, Christelle M.;
    • Angelini, Chloé;
    • Michaud, Vincent;
    • Delleci, Claire;
    • Coupry, Isabelle;
    • Goizet, Cyril;
    • Trimouille, Aurelien
    Publication type:
    journal article

  • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

    Published in:
    Nature Genetics, 2007, v. 39, n. 1, p. 25, doi. 10.1038/ng1933
    By:
    • Durand, Christelle M;
    • Betancur, Catalina;
    • Boeckers, Tobias M;
    • Bockmann, Juergen;
    • Chaste, Pauline;
    • Fauchereau, Fabien;
    • Nygren, Gudrun;
    • Rastam, Maria;
    • Gillberg, I Carina;
    • Anckarsäter, Henrik;
    • Sponheim, Eili;
    • Goubran-Botros, Hany;
    • Delorme, Richard;
    • Chabane, Nadia;
    • Mouren-Simeoni, Marie-Christine;
    • de Mas, Philippe;
    • Bieth, Eric;
    • Rogé, Bernadette;
    • Héron, Delphine;
    • Burglen, Lydie
    Publication type:
    Article

  • The Planar Polarity Protein Scribble1 Is Essential for Neuronal Plasticity and Brain Function.

    Published in:
    Journal of Neuroscience, 2010, v. 30, n. 29, p. 9738, doi. 10.1523/JNEUROSCI.6007-09.2010
    By:
    • Moreau, Maïté M.;
    • Piguel, Nicolas;
    • Papouin, Thomas;
    • Koehl, Muriel;
    • Durand, Christelle M.;
    • Rubio, Maria E.;
    • Loll, François;
    • Richard, Elodie M.;
    • Mazzocco, Claire;
    • Racca, Claudia;
    • Oliet, Stéphane H. R.;
    • Abrous, D. Nora;
    • Montcouquiol, Mireille;
    • Sans, Nathalie
    Publication type:
    Article

  • New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

    Published in:
    2015
    By:
    • Pilliod, Julie;
    • Moutton, Sébastien;
    • Lavie, Julie;
    • Maurat, Elise;
    • Hubert, Christophe;
    • Bellance, Nadège;
    • Anheim, Mathieu;
    • Forlani, Sylvie;
    • Mochel, Fanny;
    • N'Guyen, Karine;
    • Thauvin‐Robinet, Christel;
    • Verny, Christophe;
    • Milea, Dan;
    • Lesca, Gaëtan;
    • Koenig, Michel;
    • Rodriguez, Diana;
    • Houcinat, Nada;
    • Van‐Gils, Julien;
    • Durand, Christelle M.;
    • Guichet, Agnès
    Publication type:
    journal article

  • Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.

    Published in:
    PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004580
    By:
    • Leblond, Claire S.;
    • Nava, Caroline;
    • Polge, Anne;
    • Gauthier, Julie;
    • Huguet, Guillaume;
    • Lumbroso, Serge;
    • Giuliano, Fabienne;
    • Stordeur, Coline;
    • Depienne, Christel;
    • Mouzat, Kevin;
    • Pinto, Dalila;
    • Howe, Jennifer;
    • Lemière, Nathalie;
    • Durand, Christelle M.;
    • Guibert, Jessica;
    • Ey, Elodie;
    • Toro, Roberto;
    • Peyre, Hugo;
    • Mathieu, Alexandre;
    • Amsellem, Frédérique
    Publication type:
    Article

  • CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 140, doi. 10.1002/humu.23359
    By:
    • Durand, Christelle M.;
    • Dhers, Laura;
    • Tesson, Christelle;
    • Tessa, Alessandra;
    • Fouillen, Laetitia;
    • Jacqueré, Stéphanie;
    • Raymond, Laure;
    • Coupry, Isabelle;
    • Benard, Giovanni;
    • Darios, Frédéric;
    • El‐ Hachimi, Khalid H.;
    • Astrea, Guja;
    • Rivier, François;
    • Banneau, Guillaume;
    • Pujol, Claire;
    • Lacombe, Didier;
    • Durr, Alexandra;
    • Babin, Patrick J.;
    • Santorelli, Filippo M.;
    • Pietrancosta, Nicolas
    Publication type:
    Article

  • An investigation of ribosomal protein L10 gene in autism spectrum disorders.

    Published in:
    BMC Medical Genetics, 2009, v. 10, p. 1, doi. 10.1186/1471-2350-10-7
    By:
    • Xiaohong Gong;
    • Delorme, Richard;
    • Fauchereau, Fabien;
    • Durand, Christelle M.;
    • Chaste, Pauline;
    • Betancur, Catalina;
    • Goubran-Botros, Hany;
    • Nygren, Gudrun;
    • Anckarsäter, Henrik;
    • Rastam, Maria;
    • Gillberg, I. Carina;
    • Kopp, Svenny;
    • Mouren-Simeoni, Marie-Christine;
    • Gillberg, Christopher;
    • Leboyer, Marion;
    • Bourgeron, Thomas
    Publication type:
    Article