Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 24


Results: 23
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    Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 24, p. 7075, doi. 10.1093/hmg/ddv407
    By:
    • Kuehn, Sonja C.;
    • Koehne, Till;
    • Cornils, Kerstin;
    • Markmann, Sandra;
    • Riedel, Christoph;
    • Pestka, Jan M.;
    • Schweizer, Michaela;
    • Baldauf, Christina;
    • Yorgan, Timur A.;
    • Krause, Matthias;
    • Keller, Johannes;
    • Neven, Mona;
    • Breyer, Sandra;
    • Stuecker, Ralf;
    • Muschol, Nicole;
    • Busse, Bjoern;
    • Braulke, Thomas;
    • Fehse, Boris;
    • Amling, Michael;
    • Schinke, Thorsten
    Publication type:
    Article
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    A neural crest origin for cohesinopathy heart defects.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 24, p. 7005, doi. 10.1093/hmg/ddv402
    By:
    • Schuster, Kevin;
    • Leeke, Bryony;
    • Meier, Michael;
    • Yizhou Wang;
    • Newman, Trent;
    • Burgess, Sean;
    • Horsfield, Julia A.
    Publication type:
    Article
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    Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 24, p. 6886, doi. 10.1093/hmg/ddv389
    By:
    • Coyne, Alyssa N.;
    • Yamada, Shizuka B.;
    • Siddegowda, Bhavani Bagevalu;
    • Zaepfel, Benjamin L.;
    • Johannesmeyer, Jeffrey S.;
    • Lockwood, Donovan B.;
    • Pham, Linh T.;
    • Hart, Michael P.;
    • Cassel, Joel A.;
    • Freibaum, Brian;
    • Boehringer, Ashley V.;
    • Taylor, J. Paul;
    • Reitz, Allen B.;
    • Gitler, Aaron D.;
    • Zarnescu, Daniela C.
    Publication type:
    Article
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    Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 24, p. 6877, doi. 10.1093/hmg/ddv388
    By:
    • Melo, Uirá S.;
    • Macedo-Souza, Lucia I.;
    • Figueiredo, Thalita;
    • Muotri, Alysson R.;
    • Gleeson, Joseph G.;
    • Coux, Gabriela;
    • Armas, Pablo;
    • Calcaterra, Nora B.;
    • Kitajima, João P.;
    • Amorim, Simone;
    • Olávio, Thiago R.;
    • Griesi-Oliveira, Karina;
    • Coatti, Giuliana C.;
    • Rocha, Clarissa R.R.;
    • Martins-Pinheiro, Marinalva;
    • Menck, Carlos F.M.;
    • Zaki, Maha S.;
    • Kok, Fernando;
    • Zatz, Mayana;
    • Santos, Silvana
    Publication type:
    Article
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