Works about DYSTROGLYCAN


Results: 128
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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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    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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    The Role of β-Dystroglycan in Nuclear Dynamics.

    Published in:
    Cells (2073-4409), 2024, v. 13, n. 5, p. 431, doi. 10.3390/cells13050431
    By:
    • Cook, Matthew;
    • Stevenson, Ben;
    • Jacobs, Laura A.;
    • Leocadio Victoria, Daniel;
    • Cisneros, Bulmaro;
    • Hobbs, Jamie K.;
    • Stewart, Colin L.;
    • Winder, Steve J.
    Publication type:
    Article
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    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

    Published in:
    Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0170-1
    By:
    • Johnson, Katherine;
    • Bertoli, Marta;
    • Phillips, Lauren;
    • Töpf, Ana;
    • Van den Bergh, Peter;
    • Vissing, John;
    • Witting, Nanna;
    • Nafissi, Shahriar;
    • Jamal-Omidi, Shirin;
    • Łusakowska, Anna;
    • Kostera-Pruszczyk, Anna;
    • Potulska-Chromik, Anna;
    • Deconinck, Nicolas;
    • Wallgren-Pettersson, Carina;
    • Strang-Karlsson, Sonja;
    • Colomer, Jaume;
    • Claeys, Kristl G.;
    • De Ridder, Willem;
    • Baets, Jonathan;
    • von der Hagen, Maja
    Publication type:
    Article
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    Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1234, doi. 10.1038/ejhg.2012.71
    By:
    • Bello, Luca;
    • Melacini, Paola;
    • Pezzani, Raffaele;
    • D'Amico, Adele;
    • Piva, Luisa;
    • Leonardi, Emanuela;
    • Torella, Annalaura;
    • Soraru, Gianni;
    • Palmieri, Arianna;
    • Smaniotto, Gessica;
    • Gavassini, Bruno F;
    • Vianello, Andrea;
    • Nigro, Vincenzo;
    • Bertini, Enrico;
    • Angelini, Corrado;
    • Tosatto, Silvio C E;
    • Pegoraro, Elena
    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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    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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    Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002427
    By:
    • Lefeber, Dirk J.;
    • de Brouwer, Arjan P. M.;
    • Morava, Eva;
    • Riemersma, Moniek;
    • Schuurs-Hoeijmakers, Janneke H. M.;
    • Absmanner, Birgit;
    • Verrijp, Kiek;
    • den Akker, Willem M. R. van;
    • Huijben, Karin;
    • Steenbergen, Gerry;
    • van Reeuwijk, Jeroen;
    • Jozwiak, Adam;
    • Zucker, Nili;
    • Lorber, Avraham;
    • Lammens, Martin;
    • Knopf, Carlos;
    • van Bokhoven, Hans;
    • Grünewald, Stephanie;
    • Lehle, Ludwig;
    • Kapusta, Livia
    Publication type:
    Article
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    Loss of Dystroglycan Drives Cellular Senescence via Defective Mitosis-Mediated Genomic Instability.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 4961, doi. 10.3390/ijms21144961
    By:
    • Jimenez-Gutierrez, Guadalupe Elizabeth;
    • Mondragon-Gonzalez, Ricardo;
    • Soto-Ponce, Luz Adriana;
    • Gómez-Monsiváis, Wendy Lilián;
    • García-Aguirre, Ian;
    • Pacheco-Rivera, Ruth Abigail;
    • Suárez-Sánchez, Rocío;
    • Brancaccio, Andrea;
    • Magaña, Jonathan Javier;
    • C.R. Perlingeiro, Rita;
    • Cisneros, Bulmaro
    Publication type:
    Article
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