Works matching Congenital muscular dystrophy


Results: 850
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    Kongenitální svalové dystrofie.

    Published in:
    Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 18
    By:
    • Havlín, Ondřej;
    • Bálintová, Zdenka;
    • Juříková, Lenka;
    • Ošlejšková, Hana
    Publication type:
    Article
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    Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A.

    Published in:
    European Journal of Translational Myology, 2023, v. 33, n. 3, p. 1, doi. 10.4081/ejtm.2023.11501
    By:
    • Mastrapasqua, Mariangela;
    • Rossi, Roberta;
    • De Cosmo, Lucrezia;
    • Resta, Annalisa;
    • Errede, Mariella;
    • Bizzoca, Antonella;
    • Zampatti, Stefania;
    • Resta, Nicoletta;
    • Giardina, Emiliano;
    • Ruggieri, Maddalena;
    • Virgintino, Daniela;
    • Annese, Tiziana;
    • Laforgia, Nicola;
    • Girolamo, Francesco
    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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    Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.

    Published in:
    Skeletal Muscle, 2022, v. 12, n. 1, p. 1, doi. 10.1186/s13395-022-00306-8
    By:
    • Magri, Francesca;
    • Antognozzi, Sara;
    • Ripolone, Michela;
    • Zanotti, Simona;
    • Napoli, Laura;
    • Ciscato, Patrizia;
    • Velardo, Daniele;
    • Scuvera, Giulietta;
    • Nicotra, Valeria;
    • Giacobbe, Antonella;
    • Milani, Donatella;
    • Fortunato, Francesco;
    • Garbellini, Manuela;
    • Sciacco, Monica;
    • Corti, Stefania;
    • Comi, Giacomo Pietro;
    • Ronchi, Dario
    Publication type:
    Article
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    Consensus Statement on Standard of Care for Congenital Muscular Dystrophies.

    Published in:
    Journal of Child Neurology, 2010, v. 25, n. 12, p. 1559, doi. 10.1177/0883073810381924
    By:
    • Wang, Ching H.;
    • Bonnemann, Carsten G.;
    • Rutkowski, Anne;
    • Sejersen, Thomas;
    • Bellini, Jonathan;
    • Battista, Vanessa;
    • Florence, Julaine M.;
    • Schara, Ulrike;
    • Schuler, Pamela M.;
    • Wahbi, Karim;
    • Aloysius, Annie;
    • Bash, Robert O.;
    • Béroud, Christophe;
    • Bertini, Enrico;
    • Bushby, Kate;
    • Cohn, Ronald D.;
    • Connolly, Anne M.;
    • Deconinck, Nicolas;
    • Desguerre, Isabelle;
    • Eagle, Michelle
    Publication type:
    Article
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    Congenital muscular dystrophy.

    Published in:
    Acta Neuropathologica, 1993, v. 86, n. 4, p. 386, doi. 10.1007/BF00369452
    By:
    • Leyten, Q.;
    • Laak, H.;
    • Gabreëls, F.;
    • Renier, W.;
    • Renkawek, K.;
    • Sengers, R.
    Publication type:
    Article
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    Distinct muscle regenerative capacity of human induced pluripotent stem cell-derived mesenchymal stromal cells in Ullrich congenital muscular dystrophy model mice.

    Published in:
    Stem Cell Research & Therapy, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13287-024-03951-6
    By:
    • Yokomizo-Goto, Megumi;
    • Takenaka-Ninagawa, Nana;
    • Zhao, Chengzhu;
    • Bourgeois Yoshioka, Clémence Kiho;
    • Miki, Mayuho;
    • Motoike, Souta;
    • Inada, Yoshiko;
    • Zujur, Denise;
    • Theoputra, William;
    • Jin, Yonghui;
    • Toguchida, Junya;
    • Ikeya, Makoto;
    • Sakurai, Hidetoshi
    Publication type:
    Article
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    Congenital muscular dystrophy: from muscle to brain.

    Published in:
    Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-016-0289-9
    By:
    • Falsaperla, Raffaele;
    • Praticò, Andrea D.;
    • Ruggieri, Martino;
    • Parano, Enrico;
    • Rizzo, Renata;
    • Corsello, Giovanni;
    • Vitaliti, Giovanna;
    • Pavone, Piero
    Publication type:
    Article
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