Works matching DE "DYSTROPHIN genes"


Results: 322
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    Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy.

    Published in:
    Pediatric Cardiology, 2022, v. 43, n. 4, p. 855, doi. 10.1007/s00246-021-02797-6
    By:
    • Gambetta, Katheryn E.;
    • McCulloch, Michael A.;
    • Lal, Ashwin K.;
    • Knecht, Kenneth;
    • Butts, Ryan J.;
    • Villa, Chet R.;
    • Johnson, Jonathan N.;
    • Conway, Jennifer;
    • Bock, Matthew J.;
    • Schumacher, Kurt R.;
    • Law, Sabrina P.;
    • Friedland-Little, Joshua M.;
    • Deshpande, Shriprasad R.;
    • West, Shawn C.;
    • Lytrivi, Irene D.;
    • Wittlieb-Weber, Carol A.
    Publication type:
    Article
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    Duchenne muscular dystrophy trajectory in R-DMDdel52 preclinical rat model identifies COMP as biomarker of fibrosis.

    Published in:
    Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01355-2
    By:
    • Taglietti, Valentina;
    • Kefi, Kaouthar;
    • Bronisz-Budzyńska, Iwona;
    • Mirciloglu, Busra;
    • Rodrigues, Mathilde;
    • Cardone, Nastasia;
    • Coulpier, Fanny;
    • Periou, Baptiste;
    • Gentil, Christel;
    • Goddard, Melissa;
    • Authier, François-Jérôme;
    • Pietri-Rouxel, France;
    • Malfatti, Edoardo;
    • Lafuste, Peggy;
    • Tiret, Laurent;
    • Relaix, Frederic
    Publication type:
    Article
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    Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.

    Published in:
    Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
    By:
    • Giugliano, Teresa;
    • Savarese, Marco;
    • Garofalo, Arcomaria;
    • Picillo, Esther;
    • Fiorillo, Chiara;
    • D'Amico, Adele;
    • Maggi, Lorenzo;
    • Ruggiero, Lucia;
    • Vercelli, Liliana;
    • Magri, Francesca;
    • Fattori, Fabiana;
    • Torella, Annalaura;
    • Ergoli, Manuela;
    • Rubegni, Anna;
    • Fanin, Marina;
    • Musumeci, Olimpia;
    • Bleecker, Jan De;
    • Peverelli, Lorenzo;
    • Moggio, Maurizio;
    • Mercuri, Eugenio
    Publication type:
    Article
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    De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2787, doi. 10.3390/ijms25052787
    By:
    • d'Apolito, Maria;
    • Ranaldi, Alessandra;
    • Santoro, Francesco;
    • Cannito, Sara;
    • Gravina, Matteo;
    • Santacroce, Rosa;
    • Ragnatela, Ilaria;
    • Margaglione, Alessandra;
    • D'Andrea, Giovanna;
    • Casavecchia, Grazia;
    • Brunetti, Natale Daniele;
    • Margaglione, Maurizio
    Publication type:
    Article
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    Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2393, doi. 10.1002/acn3.51235
    By:
    • Komaki, Hirofumi;
    • Takeshima, Yasuhiro;
    • Matsumura, Tsuyoshi;
    • Ozasa, Shiro;
    • Funato, Michinori;
    • Takeshita, Eri;
    • Iwata, Yasuyuki;
    • Yajima, Hiroyuki;
    • Egawa, Yoichi;
    • Toramoto, Takuya;
    • Tajima, Masaya;
    • Takeda, Shinichi
    Publication type:
    Article
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