Works matching IS 00068950 AND DT 2007 AND VI 130 AND IP 8


Results: 36
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    Editorial.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 1973, doi. 10.1093/brain/awm168
    Publication type:
    Article
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    ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2045, doi. 10.1093/brain/awm135
    By:
    • Rikke K. J. Olsen;
    • Simon E. Olpin;
    • Brage S. Andresen;
    • Zofia H. Miedzybrodzka;
    • Morteza Pourfarzam;
    • Begoña Merinero;
    • Frank E. Frerman;
    • Michael W. Beresford;
    • John C. S. Dean;
    • Nanna Cornelius;
    • Oluf Andersen;
    • Anders Oldfors;
    • Elisabeth Holme;
    • Niels Gregersen;
    • Douglass M. Turnbull;
    • Andrew A. M. Morris
    Publication type:
    Article
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    Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2024, doi. 10.1093/brain/awm096
    By:
    • Haiyan Zhou;
    • Heinz Jungbluth;
    • Caroline A. Sewry;
    • Lucy Feng;
    • Enrico Bertini;
    • Kate Bushby;
    • Volker Straub;
    • Helen Roper;
    • Michael R. Rose;
    • Martin Brockington;
    • Maria Kinali;
    • Adnan Manzur;
    • Stephanie Robb;
    • Richard Appleton;
    • Sonia Messina;
    • Adele DAmico;
    • Ros Quinlivan;
    • Michael Swash;
    • Clemens R. Müller;
    • Susan Brown
    Publication type:
    Article
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    The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2037, doi. 10.1093/brain/awm054
    By:
    • Klaus Gempel;
    • Haluk Topaloglu;
    • Beril Talim;
    • Peter Schneiderat;
    • Benedikt G. H. Schoser;
    • Volkmar H. Hans;
    • Beatrix Pálmafy;
    • Gulsev Kale;
    • Aysegul Tokatli;
    • Catarina Quinzii;
    • Michio Hirano;
    • Ali Naini;
    • Salvatore DiMauro;
    • Holger Prokisch;
    • Hanns Lochmüller;
    • Rita Horvath
    Publication type:
    Article
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    Alls fair in love and war.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2232, doi. 10.1093/brain/awm074
    Publication type:
    Article
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    Errata.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2235, doi. 10.1093/brain/awm163
    Publication type:
    Article
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