Works matching IS 03645134 AND DT 2016 AND VI 79 AND IP 3


Results: 22
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    Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

    Published in:
    2016
    By:
    • Gardella, Elena;
    • Becker, Felicitas;
    • Møller, Rikke S.;
    • Schubert, Julian;
    • Lemke, Johannes R.;
    • Larsen, Line H. G.;
    • Eiberg, Hans;
    • Nothnagel, Michael;
    • Thiele, Holger;
    • Altmüller, Janine;
    • Syrbe, Steffen;
    • Merkenschlager, Andreas;
    • Bast, Thomas;
    • Steinhoff, Bernhard;
    • Nürnberg, Peter;
    • Mang, Yuan;
    • Bakke Møller, Louise;
    • Gellert, Pia;
    • Heron, Sarah E.;
    • Dibbens, Leanne M.
    Publication type:
    journal article
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    Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

    Published in:
    2016
    By:
    • Galea, Charles A.;
    • Huq, Aamira;
    • Lockhart, Paul J.;
    • Tai, Geneieve;
    • Corben, Louise A.;
    • Yiu, Eppie M.;
    • Gurrin, Lyle C.;
    • Lynch, David R.;
    • Gelbard, Sarah;
    • Durr, Alexandra;
    • Pousset, Francoise;
    • Parkinson, Michael;
    • Labrum, Robyn;
    • Giunti, Paola;
    • Perlman, Susan L.;
    • Delatycki, Martin B.;
    • Evans‐Galea, Marguerite V.
    Publication type:
    journal article
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    Response to treatment in a prospective national infantile spasms cohort.

    Published in:
    2016
    By:
    • Knupp, Kelly G.;
    • Coryell, Jason;
    • Nickels, Katherine C.;
    • Ryan, Nicole;
    • Leister, Erin;
    • Loddenkemper, Tobias;
    • Grinspan, Zachary;
    • Hartman, Adam L.;
    • Kossoff, Eric H.;
    • Gaillard, William D.;
    • Mytinger, John R.;
    • Joshi, Sucheta;
    • Shellhaas, Renée A.;
    • Sullivan, Joseph;
    • Dlugos, Dennis;
    • Hamikawa, Lorie;
    • Berg, Anne T.;
    • Millichap, John;
    • Nordli, Douglas R.;
    • Wirrell, Elaine
    Publication type:
    journal article
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    Reply.

    Published in:
    2016
    By:
    • Bearden, David;
    • DiGiovine, Marissa;
    • Dlugos, Dennis;
    • Goldberg, Ethan
    Publication type:
    commentary
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