Works matching AU Stum, Morgane

Results: 7
    1
    2

    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
    3

    Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

    Published in:
    Human Mutation, 2007, v. 28, n. 1, p. 81, doi. 10.1002/humu.20417
    By:
    • Pelletier, Valérie;
    • Jambou, Marguerite;
    • Delphin, Nathalie;
    • Zinovieva, Elena;
    • Stum, Morgane;
    • Gigarel, Nadine;
    • Dollfus, Hélène;
    • Hamel, Christian;
    • Toutain, Annick;
    • Dufier, Jean-Louis;
    • Roche, Olivier;
    • Munnich, Arnold;
    • Bonnefont, Jean-Paul;
    • Kaplan, Josseline;
    • Rozet, Jean-Michel
    Publication type:
    Article
    4

    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
    5

    Corrigendum: Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.

    Published in:
    Nature Communications, 2016, v. 7, n. 1, p. 10497, doi. 10.1038/ncomms10497
    By:
    • Niehues, Sven;
    • Bussmann, Julia;
    • Steffes, Georg;
    • Erdmann, Ines;
    • Köhrer, Caroline;
    • Sun, Litao;
    • Wagner, Marina;
    • Schäfer, Kerstin;
    • Wang, Guangxia;
    • Koerdt, Sophia N.;
    • Stum, Morgane;
    • Jaiswal, Sumit;
    • RajBhandary, Uttam L.;
    • Thomas, Ulrich;
    • Aberle, Hermann;
    • Burgess, Robert W.;
    • Yang, Xiang-Lei;
    • Dieterich, Daniela;
    • Storkebaum, Erik
    Publication type:
    Article
    6

    Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.

    Published in:
    Nature Communications, 2015, v. 6, n. 7, p. 7520, doi. 10.1038/ncomms8520
    By:
    • Niehues, Sven;
    • Bussmann, Julia;
    • Steffes, Georg;
    • Erdmann, Ines;
    • Köhrer, Caroline;
    • Sun, Litao;
    • Wagner, Marina;
    • Schäfer, Kerstin;
    • Wang, Guangxia;
    • Koerdt, Sophia N.;
    • Stum, Morgane;
    • RajBhandary, Uttam L.;
    • Thomas, Ulrich;
    • Aberle, Hermann;
    • Burgess, Robert W.;
    • Yang, Xiang-Lei;
    • Dieterich, Daniela;
    • Storkebaum, Erik
    Publication type:
    Article
    7

    Genetic analysis of Pycr1 and Pycr2 in mice.

    Published in:
    Genetics, 2021, v. 218, n. 1, p. 1, doi. 10.1093/genetics/iyab048
    By:
    • Stum, Morgane G.;
    • Tadenev, Abigail L. D.;
    • Seburn, Kevin L.;
    • Miers, Kathy E.;
    • Poon, Pak P.;
    • McMaster, Christopher R.;
    • Robinson, Carolyn;
    • Kane, Coleen;
    • Silva, Kathleen A.;
    • Cliften, Paul F.;
    • Sundberg, John P.;
    • Reinholdt, Laura G.;
    • John, Simon W. M.;
    • Burgess, Robert W.
    Publication type:
    Article