Works matching DE "CONNECTIN"


Results: 340
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    Rare genetic variants impact muscle strength.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39247-1
    By:
    • Huang, Yunfeng;
    • Bodnar, Dora;
    • Chen, Chia-Yen;
    • Sanchez-Andrade, Gabriela;
    • Sanderson, Mark;
    • Whelan, Christopher D.;
    • Bronson, Paola;
    • Sexton, David;
    • John, Sally;
    • Marshall, Eric;
    • Patel, Mehool;
    • Duraisamy, Saranya;
    • Swan, Timothy;
    • Baird, Denis;
    • Eaton, Susan;
    • Gagnon, Jake;
    • Gao, Feng;
    • Gubbels, Cynthia;
    • Kupelian, Varant;
    • Li, Kejie
    Publication type:
    Article
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    The epidemiology of myasthenia gravis.

    Published in:
    Journal of Medicine & Life, 2021, v. 14, n. 1, p. 7, doi. 10.25122/jml-2020-0145
    By:
    • Bubuioc, Ana-Maria;
    • Kudebayeva, Aigerim;
    • Turuspekova, Saule;
    • Lisnic, Vitalie;
    • Leone, Maurizio Angelo
    Publication type:
    Article
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    Making sense of missense variants in TTN-related congenital myopathies.

    Published in:
    Acta Neuropathologica, 2021, v. 141, n. 3, p. 431, doi. 10.1007/s00401-020-02257-0
    By:
    • Rees, Martin;
    • Nikoopour, Roksana;
    • Fukuzawa, Atsushi;
    • Kho, Ay Lin;
    • Fernandez-Garcia, Miguel A.;
    • Wraige, Elizabeth;
    • Bodi, Istvan;
    • Deshpande, Charu;
    • Özdemir, Özkan;
    • Daimagüler, Hülya-Sevcan;
    • Pfuhl, Mark;
    • Holt, Mark;
    • Brandmeier, Birgit;
    • Grover, Sarah;
    • Fluss, Joël;
    • Longman, Cheryl;
    • Farrugia, Maria Elena;
    • Matthews, Emma;
    • Hanna, Michael;
    • Muntoni, Francesco
    Publication type:
    Article
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    Immunological and Structural Characterization of Titin Main Immunogenic Region; I110 Domain Is the Target of Titin Antibodies in Myasthenia Gravis.

    Published in:
    Biomedicines, 2023, v. 11, n. 2, p. 449, doi. 10.3390/biomedicines11020449
    By:
    • Stergiou, Christos;
    • Williams, Rhys;
    • Fleming, Jennifer R.;
    • Zouvelou, Vasiliki;
    • Ninou, Elpinickie;
    • Andreetta, Francesca;
    • Rinaldi, Elena;
    • Simoncini, Ornella;
    • Mantegazza, Renato;
    • Bogomolovas, Julius;
    • Tzartos, John;
    • Labeit, Siegfried;
    • Mayans, Olga;
    • Tzartos, Socrates
    Publication type:
    Article
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    Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overload.

    Published in:
    eLife, 2021, p. 1, doi. 10.7554/eLife.58313
    By:
    • Filomena, Maria Carmela;
    • Yamamoto, Daniel L.;
    • Carullo, Pierluigi;
    • Medvedev, Roman;
    • Ghisleni, Andrea;
    • Piroddi, Nicoletta;
    • Scellini, Beatrice;
    • Crispino, Roberta;
    • D'Autilia, Francesca;
    • Jianlin Zhang;
    • Felicetta, Arianna;
    • Nemska, Simona;
    • Serio, Simone;
    • Tesi, Chiara;
    • Catalucci, Daniele;
    • Linke, Wolfgang A.;
    • Polishchuk, Roman;
    • Poggesi, Corrado;
    • Gautel, Mathias;
    • Bang, Marie-Louise
    Publication type:
    Article
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    Circular DNA elements of chromosomal origin are common in healthy human somatic tissue.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03369-8
    By:
    • Møller, Henrik Devitt;
    • Mohiyuddin, Marghoob;
    • Prada-Luengo, Iñigo;
    • Sailani, M. Reza;
    • Halling, Jens Frey;
    • Plomgaard, Peter;
    • Maretty, Lasse;
    • Hansen, Anders Johannes;
    • Snyder, Michael P.;
    • Pilegaard, Henriette;
    • Lam, Hugo Y. K.;
    • Regenberg, Birgitte
    Publication type:
    Article
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