Works matching DE "DYSTROPHIN genes"

Results: 369
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    Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.

    Published in:
    Journal of Neurology, 2025, v. 272, n. 7, p. 1, doi. 10.1007/s00415-025-13126-9
    By:
    • Riguzzi, Pietro;
    • Borland, Holly;
    • James, Meredith K.;
    • Bourke, John;
    • Bettolo, Chiara Marini;
    • Lofra, Robert Muni;
    • Diaz-Manera, Jordi;
    • Tasca, Giorgio;
    • Schiava, Marianela;
    • ElSeed, Maha;
    • Harris, Elizabeth;
    • Grover, Emma;
    • Geagan, Chloe;
    • Diaz, Carla Bolano;
    • Haagsma, Ariele Barreto;
    • Salman, Doaa;
    • Reeves, Tara;
    • Kocak, Goknur S.;
    • Robinson, Emma;
    • Waldock, Peter
    Publication type:
    Article
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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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    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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    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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    Two Novel Mouse Models of Duchenne Muscular Dystrophy with Similar Dmd Exon 51 Frameshift Mutations and Varied Phenotype Severity.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 1, p. 158, doi. 10.3390/ijms26010158
    By:
    • Baikova, Iuliia P.;
    • Ilchuk, Leonid A.;
    • Safonova, Polina D.;
    • Varlamova, Ekaterina A.;
    • Okulova, Yulia D.;
    • Kubekina, Marina V.;
    • Tvorogova, Anna V.;
    • Dolmatova, Daria M.;
    • Bakaeva, Zanda V.;
    • Kislukhina, Evgenia N.;
    • Lizunova, Natalia V.;
    • Bruter, Alexandra V.;
    • Silaeva, Yulia Yu.
    Publication type:
    Article
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