Found: 2

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  • De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 623, doi. 10.1002/acn3.198
    By:
    • Esmaeeli Nieh, Sahar;
    • Madou, Maura R. Z.;
    • Sirajuddin, Minhajuddin;
    • Fregeau, Brieana;
    • McKnight, Dianalee;
    • Lexa, Katrina;
    • Strober, Jonathan;
    • Spaeth, Christine;
    • Hallinan, Barbara E.;
    • Smaoui, Nizar;
    • Pappas, John G.;
    • Burrow, Thomas A.;
    • McDonald, Marie T.;
    • Latibashvili, Mariam;
    • Leshinsky ‐ Silver, Esther;
    • Lev, Dorit;
    • Blumkin, Luba;
    • Vale, Ronald D.;
    • Barkovich, Anthony James;
    • Sherr, Elliott H.
    Publication type:
    Article

  • De novo mutations in epileptic encephalopathies.

    Published in:
    Nature, 2013, v. 501, n. 7466, p. 217, doi. 10.1038/nature12439
    By:
    • Allen, Andrew S.;
    • Berkovic, Samuel F.;
    • Cossette, Patrick;
    • Delanty, Norman;
    • Dlugos, Dennis;
    • Eichler, Evan E.;
    • Epstein, Michael P.;
    • Glauser, Tracy;
    • Goldstein, David B.;
    • Han, Yujun;
    • Heinzen, Erin L.;
    • Hitomi, Yuki;
    • Howell, Katherine B.;
    • Johnson, Michael R.;
    • Kuzniecky, Ruben;
    • Lowenstein, Daniel H.;
    • Lu, Yi-Fan;
    • Madou, Maura R. Z.;
    • Marson, Anthony G.;
    • Mefford, Heather C.
    Publication type:
    Article