Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 12

Results: 15
    1

    Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 12, p. 2187, doi. 10.1093/hmg/ddy127
    By:
    • Boczonadi, Veronika;
    • Meyer, Kathrin;
    • Gonczarowska-Jorge, Humberto;
    • Griffin, Helen;
    • Roos, Andreas;
    • Bartsakoulia, Marina;
    • Bansagi, Boglarka;
    • Ricci, Giulia;
    • Palinkas, Fanni;
    • Zahedi, René P.;
    • Bruni, Francesco;
    • Kaspar, Brian;
    • Lochmü ller, Hanns;
    • Boycott, Kym M.;
    • Mü ller, Juliane S.;
    • Horvath, Rita
    Publication type:
    Article
    2

    Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 12, p. 2171, doi. 10.1093/hmg/ddy126
    By:
    • El-Saafin, Farrah;
    • Curry, Cynthia;
    • Ye, Tao;
    • Garnier, Jean-Marie;
    • Kolb-Cheynel, Isabelle;
    • Stierle, Matthieu;
    • Downer, Natalie L.;
    • Dixon, Mathew P.;
    • Negroni, Luc;
    • Berger, Imre;
    • Thomas, Tim;
    • Voss, Anne K.;
    • Dobyns, William;
    • Devys, Didier;
    • Tora, Laszlo
    Publication type:
    Article
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    A new mouse model of ARX dup24 recapitulates the patients behavioral and fine motor alterations.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 12, p. 2138, doi. 10.1093/hmg/ddy122
    By:
    • Dubos, Aline;
    • Meziane, Hamid;
    • Iacono, Giovanni;
    • Curie, Aurore;
    • Riet, Fabrice;
    • Martin, Christelle;
    • Loaëc, Nade'ge;
    • Birling, Marie-Christine;
    • Selloum, Mohammed;
    • Normand, Elisabeth;
    • Pavlovic, Guillaume;
    • Sorg, Tania;
    • Stunnenberg, Henk G.;
    • Chelly, Jamel;
    • Humeau, Yann;
    • Friocourt, Gaë lle;
    • Hérault, Yann
    Publication type:
    Article
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    The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 12, p. 2064, doi. 10.1093/hmg/ddy110
    By:
    • Jordan, Valerie K.;
    • Beck, Tyler F.;
    • Hernandez-Garcia, Andres;
    • Kundert, Peter N.;
    • Kim, Bum-Jun;
    • Jhangiani, Shalini N.;
    • Gambin, Tomasz;
    • Starkovich, Molly;
    • Punetha, Jaya;
    • Paine, Ingrid S.;
    • Posey, Jennifer E.;
    • Li, Alexander H.;
    • Muzny, Donna;
    • Chih-Wei Hsu;
    • Lashua, Amber J.;
    • Suna, Xin;
    • Fernandes, Caraciolo J.;
    • Dickinson, Mary E.;
    • Lally, Kevin P.;
    • Gibbs, Richard A.
    Publication type:
    Article
    13
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    Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 12, p. 2039, doi. 10.1093/hmg/ddy099
    By:
    • Jacquemont, Sébastien;
    • Pacini, Laura;
    • Jønch, Aia E.;
    • Cencelli, Giulia;
    • Rozenberg, Izabela;
    • Yunsheng He;
    • D'Andrea, Laura;
    • Pedini, Giorgia;
    • Eldeeb, Marwa;
    • Willemsen, Rob;
    • Gasparini, Fabrizio;
    • Tassone, Flora;
    • Hagerman, Randi;
    • Gomez-Mancilla, Baltazar;
    • Bagni, Claudia
    Publication type:
    Article