Works matching DE "DYSTROGLYCAN"

Results: 127
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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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    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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    ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 269
    By:
    • Cirak, Sebahattin;
    • Foley, Aileen Reghan;
    • Herrmann, Ralf;
    • Willer, Tobias;
    • Yau, Shu;
    • Stevens, Elizabeth;
    • Torelli, Silvia;
    • Brodd, Lina;
    • Kamynina, Alisa;
    • Vondracek, Petr;
    • Roper, Helen;
    • Longman, Cheryl;
    • Korinthenberg, Rudolf;
    • Marrosu, Gianni;
    • Nürnberg, Peter;
    • Michele, Daniel E.;
    • Plagnol, Vincent;
    • Hurles, Matt;
    • Moore, Steven A.;
    • Sewry, Caroline A.
    Publication type:
    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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    COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.

    Published in:
    Animal Genetics, 2015, v. 46, n. 6, p. 711, doi. 10.1111/age.12350
    By:
    • Gandolfi, Barbara;
    • Grahn, Robert A.;
    • Creighton, Erica K.;
    • Williams, D. Colette;
    • Dickinson, Peter J.;
    • Sturges, Beverly K.;
    • Guo, Ling T.;
    • Shelton, G. Diane;
    • Leegwater, Peter A. J.;
    • Longeri, Maria;
    • Malik, Richard;
    • Lyons, Leslie A.
    Publication type:
    Article
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    Deletion of astroglial connexins weakens the blood-brain barrier.

    Published in:
    Journal of Cerebral Blood Flow & Metabolism, 2012, v. 32, n. 8, p. 1457, doi. 10.1038/jcbfm.2012.45
    By:
    • Ezan, Pascal;
    • André, Pascal;
    • Cisternino, Salvatore;
    • Saubaméa, Bruno;
    • Boulay, Anne-Cécile;
    • Doutremer, Suzette;
    • Thomas, Marie-Annick;
    • Quenech'du, Nicole;
    • Giaume, Christian;
    • Cohen-Salmon, Martine
    Publication type:
    Article
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    Cover.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. i, doi. 10.1002/mgg3.570
    By:
    • Bailey, Mitchell;
    • Miller, Nicole
    Publication type:
    Article