Found: 4

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  • Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.

    Published in:
    2019
    By:
    • Savarese, Marco;
    • Vihola, Anna;
    • Jonson, Per Harald;
    • Sarparanta, Jaakko;
    • Hackman, Peter;
    • Udd, Bjarne;
    • Palmio, Johanna;
    • Poza, Juan José;
    • García‐Bragado, Federico;
    • Weinberg, Jan;
    • Olive, Montse;
    • Cobo, Ana Maria;
    • Urtizberea, Jon Andoni;
    • García-Bragado, Federico
    Publication type:
    journal article

  • Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A.

    Published in:
    PLoS ONE, 2008, v. 3, n. 11, p. 1, doi. 10.1371/journal.pone.0003750
    By:
    • Amets Sáenz;
    • Azpitarte, Margarita;
    • Armañanzas, Rubén;
    • Leturcq, France;
    • Alzualde, Ainhoa;
    • Inza, Iñaki;
    • García-Bragado, Federico;
    • de la Herran, Gaspar;
    • Corcuera, Julián;
    • Cabello, Ana;
    • Navarro, Carmen;
    • de la Torre, Carolina;
    • Gallardo, Eduard;
    • Illa, Isabel;
    • de Munain, Adolfo López
    Publication type:
    Article

  • Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

    Published in:
    Muscle & Nerve, 2011, v. 44, n. 5, p. 710, doi. 10.1002/mus.22194
    By:
    • Sáenz, Amets;
    • Ono, Yasuko;
    • Sorimachi, Hiroyuki;
    • Goicoechea, Maria;
    • Leturcq, France;
    • Blázquez, Lorea;
    • García-Bragado, Federico;
    • Marina, Alberto;
    • Poza, Juan José;
    • Azpitarte, Margarita;
    • Doi, Naoko;
    • Urtasun, Miguel;
    • Kaplan, Jean-Claude;
    • De Munain, Adolfo López
    Publication type:
    Article

  • Clinical Images: Rapidly reversible winging scapula.

    Published in:
    2015
    By:
    • Fernández‐Torrón, Roberto;
    • López de Munain, Adolfo;
    • Camaño, Pilar;
    • García‐Bragado, Federico
    Publication type:
    Case Study