Works matching DE "DYSTROGLYCAN"


Results: 128
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    Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

    Published in:
    2018
    By:
    • Astrea, Guja;
    • Romano, Alessandro;
    • Angelini, Corrado;
    • Antozzi, Carlo Giuseppe;
    • Barresi, Rita;
    • Battini, Roberta;
    • Battisti, Carla;
    • Bertini, Enrico;
    • Bruno, Claudio;
    • Cassandrini, Denise;
    • Fanin, Marina;
    • Fattori, Fabiana;
    • Fiorillo, Chiara;
    • Guerrini, Renzo;
    • Maggi, Lorenzo;
    • Mercuri, Eugenio;
    • Morani, Federica;
    • Mora, Marina;
    • Moro, Francesca;
    • Pezzini, Ilaria
    Publication type:
    journal article
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    This Week in The Journal.

    Published in:
    Journal of Neuroscience, 2016, v. 36, n. 40, p. i
    By:
    • Esch, Teresa
    Publication type:
    Article
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    Structural flexibility of human α-dystroglycan.

    Published in:
    FEBS Open Bio, 2017, v. 7, n. 8, p. 1064, doi. 10.1002/2211-5463.12259
    By:
    • Covaceuszach, Sonia;
    • Bozzi, Manuela;
    • Bigotti, Maria Giulia;
    • Sciandra, Francesca;
    • Konarev, Petr Valeryevich;
    • Brancaccio, Andrea;
    • Cassetta, Alberto
    Publication type:
    Article
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    ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
    By:
    • Willer, Tobias;
    • Lee, Hane;
    • Lommel, Mark;
    • Yoshida-Moriguchi, Takako;
    • de Bernabe, Daniel Beltran Valero;
    • Venzke, David;
    • Cirak, Sebahattin;
    • Schachter, Harry;
    • Vajsar, Jiri;
    • Voit, Thomas;
    • Muntoni, Francesco;
    • Loder, Andrea S;
    • Dobyns, William B;
    • Winder, Thomas L;
    • Strahl, Sabine;
    • Mathews, Katherine D;
    • Nelson, Stanley F;
    • Moore, Steven A;
    • Campbell, Kevin P
    Publication type:
    Article
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    Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
    By:
    • Roscioli, Tony;
    • Kamsteeg, Erik-Jan;
    • Buysse, Karen;
    • Maystadt, Isabelle;
    • van Reeuwijk, Jeroen;
    • van den Elzen, Christa;
    • van Beusekom, Ellen;
    • Riemersma, Moniek;
    • Pfundt, Rolph;
    • Vissers, Lisenka E L M;
    • Schraders, Margit;
    • Altunoglu, Umut;
    • Buckley, Michael F;
    • Brunner, Han G;
    • Grisart, Bernard;
    • Zhou, Huiqing;
    • Veltman, Joris A;
    • Gilissen, Christian;
    • Mancini, Grazia M S;
    • Delrée, Paul
    Publication type:
    Article
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    Vascular Delivery of rAAVrh74.MCK.GALGT2 to the Gastrocnemius Muscle of the Rhesus Macaque Stimulates the Expression of Dystrophin and Laminin α2 Surrogates.

    Published in:
    Molecular Therapy, 2014, v. 22, n. 4, p. 713, doi. 10.1038/mt.2013.246
    By:
    • Chicoine, Louis G.;
    • Rodino-Klapac, Louise R.;
    • Shao, Guohong;
    • Xu, Rui;
    • Bremer, William G.;
    • Camboni, Marybeth;
    • Golden, Bethannie;
    • Montgomery, Chrystal L.;
    • Shontz, Kimberly;
    • Heller, Kristin N.;
    • Griffin, Danielle A.;
    • Lewis, Sarah;
    • Coley, Brian D.;
    • Walker, Christopher M.;
    • Clark, K. Reed;
    • Sahenk, Zarife;
    • Mendell, Jerry R.;
    • Martin, Paul T.
    Publication type:
    Article
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    Abnormal promoter DNA hypermethylation of the integrin, nidogen, and dystroglycan genes in breast cancer.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81851-y
    By:
    • Strelnikov, Vladimir V.;
    • Kuznetsova, Ekaterina B.;
    • Tanas, Alexander S.;
    • Rudenko, Viktoria V.;
    • Kalinkin, Alexey I.;
    • Poddubskaya, Elena V.;
    • Kekeeva, Tatiana V.;
    • Chesnokova, Galina G.;
    • Trotsenko, Ivan D.;
    • Larin, Sergey S.;
    • Kutsev, Sergey I.;
    • Zaletaev, Dmitry V.;
    • Nemtsova, Marina V.;
    • Simonova, Olga A.
    Publication type:
    Article