Works matching Muscular atrophy

Results: 5000
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    脊髓性肌萎缩症治疗研究进展.

    Published in:
    Chinese Journal of Contemporary Pediatrics, 2022, v. 24, n. 2, p. 204, doi. 10.7499/j.issn.1008-8830.2110041
    By:
    • 杨东铃;
    • 综述;
    • 阮毅燕;
    • 审校
    Publication type:
    Article
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    Activating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1α‐XBP1 pathway.

    Published in:
    Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12816
    By:
    • D'Amico, Domenico;
    • Biondi, Olivier;
    • Januel, Camille;
    • Bezier, Cynthia;
    • Sapaly, Delphine;
    • Clerc, Zoé;
    • El Khoury, Mirella;
    • Sundaram, Venkat Krishnan;
    • Houdebine, Léo;
    • Josse, Thibaut;
    • Della Gaspera, Bruno;
    • Martinat, Cécile;
    • Massaad, Charbel;
    • Weill, Laure;
    • Charbonnier, Frédéric
    Publication type:
    Article
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    Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

    Published in:
    Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 293, doi. 10.1093/brain/awu356
    By:
    • Rossor, Alexander M.;
    • Oates, Emily C.;
    • Salter, Hannah K.;
    • Liu, Yang;
    • Murphy, Sinead M.;
    • Schule, Rebecca;
    • Gonzalez, Michael A.;
    • Scoto, Mariacristina;
    • Phadke, Rahul;
    • Sewry, Caroline A.;
    • Houlden, Henry;
    • Jordanova, Albena;
    • Tournev, Iyailo;
    • Chamova, Teodora;
    • Litvinenko, Ivan;
    • Zuchner, Stephan;
    • Herrmann, David N.;
    • Blake, Julian;
    • Sowden, Janet E.;
    • Acsadi, Gyuda
    Publication type:
    Article
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    Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.

    Published in:
    Jornal de Pediatria, 2025, v. 101, n. 1, p. 38, doi. 10.1016/j.jped.2024.07.011
    By:
    • Amorim de Albuquerque, Ana Letícia;
    • Kersting Chadanowicz, Júlia;
    • Possebon Bevilacqua, Isabela;
    • Portella Staub, Ana Lucia;
    • Brea Winckler, Pablo;
    • Zambone da Silva, Patricia;
    • Chaves Fagondes, Simone;
    • Salatti Ferrari, Renata;
    • de Oliveira Trojahn, Claudia Denise;
    • Zechlinski Sacharuk, Viviane;
    • Woycinck Kowalski, Thayne;
    • Carvalho Donis, Karina;
    • Michelin Becker, Michele;
    • Morales Saute, Jonas Alex
    Publication type:
    Article
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