Works matching DE "CREATINE kinase"

Results: 5000
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    HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1707, doi. 10.1093/brain/awae371
    By:
    • Dofash, Lein N H;
    • Miles, Lee B;
    • Saito, Yoshihiko;
    • Rivas, Eloy;
    • Calcinotto, Vanessa;
    • Oveissi, Sara;
    • Serrano, Rita J;
    • Templin, Rachel;
    • Ramm, Georg;
    • Rodger, Alison;
    • Haywood, Joel;
    • Ingley, Evan;
    • Clayton, Joshua S;
    • Taylor, Rhonda L;
    • Folland, Chiara L;
    • Groth, David;
    • Hock, Daniella H;
    • Stroud, David A;
    • Gorokhova, Svetlana;
    • Donkervoort, Sandra
    Publication type:
    Article
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