Works by Davoine, Claire-Sophie

Results: 11
    1

    Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

    Published in:
    JAMA Neurology, 2018, v. 75, n. 5, p. 591, doi. 10.1001/jamaneurol.2017.5121
    By:
    • Coutelier, Marie;
    • Hammer, Monia B.;
    • Stevanin, Giovanni;
    • Monin, Marie-Lorraine;
    • Davoine, Claire-Sophie;
    • Mochel, Fanny;
    • Labauge, Pierre;
    • Ewenczyk, Claire;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Hannequin, Didier;
    • Melki, Judith;
    • Toutain, Annick;
    • Laugel, Vincent;
    • Forlani, Sylvie;
    • Charles, Perrine;
    • Broussolle, Emmanuel;
    • Thobois, Stéphane;
    • Afenjar, Alexandra;
    • Anheim, Mathieu
    Publication type:
    Article
    2

    Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

    Published in:
    Nature Genetics, 2000, v. 26, n. 4, p. 480, doi. 10.1038/82638
    By:
    • Nicole, Sophie;
    • Davoine, Claire-Sophie;
    • Topaloglu, Haluk;
    • Cattolico, Laurence;
    • Barral, Duarte;
    • Beighton, Peter;
    • Hamida, Christiane Ben;
    • Hammouda, Hadi;
    • Cruaud, Corinne;
    • White, Peter S.;
    • Samson, Delphine;
    • Urtizberea, J. Andoni;
    • Lehmann-Horn, Franck;
    • Weissenbach, Jean;
    • Hentati, Faycal;
    • Fontaine, Bertrand
    Publication type:
    Article
    3

    Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

    Published in:
    Nature Genetics, 1999, v. 23, n. 3, p. 296, doi. 10.1038/15472
    By:
    • Hazan, Jamilé;
    • Fonknechten, Nùria;
    • Mavel, Delphine;
    • Paternotte, Caroline;
    • Samson, Delphine;
    • Artiguenave, François;
    • Davoine, Claire-Sophie;
    • Cruaud, Corinne;
    • Dürr, Alexandra;
    • Wincker, Patrick;
    • Brottier, Philippe;
    • Cattolico, Laurence;
    • Barbe, Valérie;
    • Burgunder, Jean-Marc;
    • Prud'homme, Jean-François;
    • Brice, Alexis;
    • Fontaine, Bertrand;
    • Heilig, Roland;
    • Weissenbach, Jean
    Publication type:
    Article
    4

    Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

    Published in:
    Journal of Neurology, 2017, v. 264, n. 8, p. 1791, doi. 10.1007/s00415-017-8569-x
    By:
    • Bauché, Stéphanie;
    • Vellieux, Geoffroy;
    • Sternberg, Damien;
    • Fontenille, Marie-Joséphine;
    • Bruyckere, Elodie;
    • Davoine, Claire-Sophie;
    • Brochier, Guy;
    • Messéant, Julien;
    • Wolf, Lucie;
    • Fardeau, Michel;
    • Lacène, Emmanuelle;
    • Romero, Norma;
    • Koenig, Jeanine;
    • Fournier, Emmanuel;
    • Hantaï, Daniel;
    • Streichenberger, Nathalie;
    • Manel, Veronique;
    • Lacour, Arnaud;
    • Nadaj-Pakleza, Aleksandra;
    • Sukno, Sylvie
    Publication type:
    Article
    5
    6

    Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia.

    Published in:
    Human Molecular Genetics, 2008, v. 17, n. 20, p. 3166, doi. 10.1093/hmg/ddn213
    By:
    • Stum, Morgane;
    • Girard, Emmanuelle;
    • Bangratz, Marie;
    • Bernard, Véronique;
    • Herbin, Marc;
    • Vignaud, Alban;
    • Ferry, Arnaud;
    • Davoine, Claire-Sophie;
    • Echaniz-Laguna, Andoni;
    • René, Frédérique;
    • Marcel, Christophe;
    • Molgó, Jordi;
    • Fontaine, Bertrand;
    • Krejci, Eric;
    • Nicole, Sophie
    Publication type:
    Article
    7

    Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

    Published in:
    Human Molecular Genetics, 2005, v. 14, n. 3, p. 461, doi. 10.1093/hmg/ddi044
    By:
    • Fonknechten, Nùria;
    • Mavel, Delphine;
    • Byrne, Paula;
    • Davoine, Claire-Sophie;
    • Cruaud, Corinne;
    • Bönsch, Dominikus;
    • Samson, Delphine;
    • Coutinho, Paula;
    • Hutchinson, Michael;
    • McMonagle, Paul;
    • Burgunder, Jean-Marc;
    • Tartaglione, Antonio;
    • Heinzlef, Olivier;
    • Feki, Imed;
    • Deufel, Thomas;
    • Parfrey, Nollaig;
    • Brice, Alexis;
    • Fontaine, Bertrand;
    • Prud'homme, Jean-François;
    • Weissenbach, Jean
    Publication type:
    Article
    8

    Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

    Published in:
    Human Molecular Genetics, 2000, v. 9, n. 4, p. 637, doi. 10.1093/hmg/9.4.637
    By:
    • Fonknechten, Nùria;
    • Mavel, Delphine;
    • Byrne, Paula;
    • Davoine, Claire-Sophie;
    • Cruaud, Corinne;
    • Boentsch, Dominikus;
    • Samson, Delphine;
    • Coutinho, Paula;
    • Hutchinson, Michael;
    • Monagle, Paul Mc;
    • Burgunder, Jean-Marc;
    • Tartaglione, Antonio;
    • Heinzlef, Olivier;
    • Feki, Imed;
    • Deufel, Thomas;
    • Parfrey, Nollaig;
    • Brice, Alexis;
    • Fontaine, Bertrand;
    • Prud’homme, Jean-François;
    • Wiessenbach, Jean
    Publication type:
    Article
    9

    Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.

    Published in:
    Human Mutation, 2006, v. 27, n. 11, p. 1082, doi. 10.1002/humu.20388
    By:
    • Stum, Morgane;
    • Davoine, Claire-Sophie;
    • Vicart, Savine;
    • Guillot-Noël, Léna;
    • Topaloglu, Haluk;
    • Carod-Artal, Francisco Javier;
    • Kayserili, Hülya;
    • Hentati, Fayçal;
    • Merlini, Luciano;
    • Urtizberea, Jon Andoni;
    • Hammouda, EL-Hadi;
    • Quan, Phuc Canh;
    • Fontaine, Bertrand;
    • Nicole, Sophie
    Publication type:
    Article
    10

    Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 4, p. 1258, doi. 10.1093/brain/awae312
    By:
    • Pellerin, David;
    • Méreaux, Jean-Loup;
    • Boluda, Susana;
    • Danzi, Matt C;
    • Dicaire, Marie-Josée;
    • Davoine, Claire-Sophie;
    • Genis, David;
    • Spurdens, Guinevere;
    • Ashton, Catherine;
    • Hammond, Jillian M;
    • Gerhart, Brandon J;
    • Chelban, Viorica;
    • Le, Phuong U;
    • Safisamghabadi, Maryam;
    • Yanick, Christopher;
    • Lee, Hamin;
    • Nageshwaran, Sathiji K;
    • Matos-Rodrigues, Gabriel;
    • Jaunmuktane, Zane;
    • Petrecca, Kevin
    Publication type:
    Article
    11