Works matching DE "MYELIN proteins"


Results: 1191
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    Thr124Met myelin protein zero mutation mimicking motor neuron disease.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022, v. 23, n. 3/4, p. 299, doi. 10.1080/21678421.2021.1946086
    By:
    • Bisogni, Giulia;
    • Romano, Angela;
    • Conte, Amelia;
    • Tasca, Giorgio;
    • Bernardo, Daniela;
    • Luigetti, Marco;
    • Di Paolantonio, Andrea;
    • Fabrizi, Gian Maria;
    • Patanella, Agata Katia;
    • Meleo, Emiliana;
    • Sabatelli, Mario
    Publication type:
    Article
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    Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1154, doi. 10.1038/ejhg.2009.29
    By:
    • Miltenberger-Miltenyi, Gabriel;
    • Schwarzbraun, Thomas;
    • Löscher, Wolfgang N.;
    • Wanschitz, Julia;
    • Windpassinger, Christian;
    • Duba, Hans-Christoph;
    • Seidl, Rainer;
    • Albrecht, Gerhard;
    • Weirich-Schwaiger, Helga;
    • Zoller, Heinz;
    • Utermann, Gerd;
    • Auer-Grumbach, Michaela;
    • Janecke, Andreas R.
    Publication type:
    Article
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    Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.

    Published in:
    Molecular Brain, 2017, v. 10, p. 1, doi. 10.1186/s13041-017-0294-y
    By:
    • Choquet, Karine;
    • Sharon Yang;
    • Moir, Robyn D.;
    • Forget, Diane;
    • Larivière, Roxanne;
    • Bouchard, Annie;
    • Poitras, Christian;
    • Sgarioto, Nicolas;
    • Dicaire, Marie-Josée;
    • Noohi, Forough;
    • Kennedy, Timothy E.;
    • Rochford, Joseph;
    • Bernard, Geneviève;
    • Teichmann, Martin;
    • Coulombe, Benoit;
    • Willis, Ian M.;
    • Kleinman, Claudia L.;
    • Brais, Bernard
    Publication type:
    Article
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