Works matching IS 03645134 AND DT 2015 AND VI 78


Results: 132
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    Epilepsy in adults with mitochondrial disease: A cohort study.

    Published in:
    2015
    By:
    • Whittaker, Roger G.;
    • Devine, Helen E.;
    • Gorman, Grainne S.;
    • Schaefer, Andrew M.;
    • Horvath, Rita;
    • Ng, Yi;
    • Nesbitt, Victoria;
    • Lax, Nichola Z.;
    • McFarland, Robert;
    • Cunningham, Mark O.;
    • Taylor, Robert W.;
    • Turnbull, Douglass M.
    Publication type:
    journal article
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    Quinidine in the treatment of KCNT1-positive epilepsies.

    Published in:
    2015
    By:
    • Mikati, Mohamad A;
    • Jiang, Yong‐hui;
    • Carboni, Michael;
    • Shashi, Vandana;
    • Petrovski, Slave;
    • Spillmann, Rebecca;
    • Milligan, Carol J.;
    • Li, Melody;
    • Grefe, Annette;
    • McConkie, Allyn;
    • Berkovic, Samuel;
    • Scheffer, Ingrid;
    • Mullen, Saul;
    • Bonner, Melanie;
    • Petrou, Steven;
    • Goldstein, David
    Publication type:
    journal article
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    TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

    Published in:
    2015
    By:
    • Donkervoort, Sandra;
    • Papadaki, Maria;
    • de Winter, Josine M.;
    • Neu, Matthew B.;
    • Kirschner, Janbernd;
    • Bolduc, Véronique;
    • Yang, Michele L.;
    • Gibbons, Melissa A.;
    • Hu, Ying;
    • Dastgir, Jahannaz;
    • Leach, Meganne E.;
    • Rutkowski, Anne;
    • Foley, A. Reghan;
    • Krüger, Marcus;
    • Wartchow, Eric P.;
    • McNamara, Elyshia;
    • Ong, Royston;
    • Nowak, Kristen J.;
    • Laing, Nigel G.;
    • Clarke, Nigel F.
    Publication type:
    journal article
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    Copy number variations in multiple sclerosis and neuromyelitis optica.

    Published in:
    2015
    By:
    • Sato, Shinya;
    • Yamamoto, Ken;
    • Matsushita, Takuya;
    • Isobe, Noriko;
    • Kawano, Yuji;
    • Iinuma, Kyoko;
    • Niino, Masaaki;
    • Fukazawa, Toshiyuki;
    • Nakamura, Yuri;
    • Watanabe, Mitsuru;
    • Yonekawa, Tomomi;
    • Masaki, Katsuhisa;
    • Yoshimura, Satoshi;
    • Murai, Hiroyuki;
    • Yamasaki, Ryo;
    • Kira, Jun‐ichi
    Publication type:
    journal article
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    Erratum.

    Published in:
    2015
    Publication type:
    corrected article
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    Reply: To PMID 26031848.

    Published in:
    2015
    By:
    • Svensson, Elisabeth;
    • Horváth‐Puhó, Erzsébet;
    • Thomsen, Reimar W.;
    • Djurhuus, Jens Christian;
    • Pedersen, Lars;
    • Borghammer, Per;
    • Sørensen, Henrik Toft
    Publication type:
    commentary
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    Reply.

    Published in:
    Annals of Neurology, 2015, v. 78, n. 3, p. 499, doi. 10.1002/ana.24417
    By:
    • Nho, Kwangsik;
    • Saykin, Andrew J.
    Publication type:
    Article
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