Found: 4

Select item for more details and to access through your institution.

  • WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1351, doi. 10.1111/epi.17542
    By:
    • Oliver, Karen L.;
    • Trivisano, Marina;
    • Mandelstam, Simone A.;
    • De Dominicis, Angela;
    • Francis, David I.;
    • Green, Timothy E.;
    • Muir, Alison M.;
    • Chowdhary, Apoorva;
    • Hertzberg, Christoph;
    • Goldhahn, Klaus;
    • Metreau, Julia;
    • Prager, Christine;
    • Pinner, Jason;
    • Cardamone, Michael;
    • Myers, Kenneth A.;
    • Leventer, Richard J.;
    • Lesca, Gaetan;
    • Bahlo, Melanie;
    • Hildebrand, Michael S.;
    • Mefford, Heather C.
    Publication type:
    Article

  • FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 1, p. e13, doi. 10.1111/epi.16784
    By:
    • Schneider, Amy L.;
    • Myers, Candace T.;
    • Muir, Alison M.;
    • Calvert, Sophie;
    • Basinger, Alice;
    • Perry, M. Scott;
    • Rodan, Lance;
    • Helbig, Katherine L.;
    • Chambers, Chelsea;
    • Gorman, Kathleen M.;
    • King, Mary D.;
    • Donkervoort, Sandra;
    • Soldatos, Ariane;
    • Bönnemann, Carsten G.;
    • Spataro, Nino;
    • Gabau, Elisabeth;
    • Arellano, Montserrat;
    • Cappuccio, Gerarda;
    • Brunetti‐Pierri, Nicola;
    • Rossignol, Elsa
    Publication type:
    Article

  • Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

    Published in:
    2021
    By:
    • Spinelli, Egidio;
    • Christensen, Kyle R.;
    • Bryant, Emily;
    • Schneider, Amy;
    • Rakotomamonjy, Jennifer;
    • Muir, Alison M.;
    • Giannelli, Jessica;
    • Littlejohn, Rebecca O.;
    • Roeder, Elizabeth R.;
    • Schmidt, Berkley;
    • Wilson, William G.;
    • Marco, Elysa J.;
    • Iwama, Kazuhiro;
    • Kumada, Satoko;
    • Pisano, Tiziana;
    • Barba, Carmen;
    • Vetro, Annalisa;
    • Brilstra, Eva H.;
    • van Jaarsveld, Richard H.;
    • Matsumoto, Naomichi
    Publication type:
    journal article

  • Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 12, p. 3085, doi. 10.1093/hmg/ddu013
    By:
    • Muir, Alison M.;
    • Ren, Yinshi;
    • Butz, Delana Hopkins;
    • Davis, Nicholas A.;
    • Blank, Robert D.;
    • Birk, David E.;
    • Lee, Se-Jin;
    • Rowe, David;
    • Feng, Jian Q.;
    • Greenspan, Daniel S.
    Publication type:
    Article