Works about FACIOSCAPULOHUMERAL muscular dystrophy

Results: 885
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    Safety and efficacy of magnetic sphincter augmentation dilation.

    Published in:
    Surgical Endoscopy & Other Interventional Techniques, 2021, v. 35, n. 7, p. 3861, doi. 10.1007/s00464-020-07799-8
    By:
    • Fletcher, Reid;
    • Dunst, Christy M.;
    • Abdelmoaty, Walaa F.;
    • Alicuben, Evan T.;
    • Shemmeri, Ealaf;
    • Parker, Brett;
    • Müller, Dolores;
    • Sharata, Ahmed M.;
    • Reavis, Kevin M.;
    • Davila Bradley, Daniel;
    • Bildzukewicz, Nikolai A.;
    • Louie, Brian E.;
    • Lipham, John C.;
    • DeMeester, Steven R.
    Publication type:
    Article
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    SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45933-5
    By:
    • Nashabat, Marwan;
    • Nabavizadeh, Nasrinsadat;
    • Saraçoğlu, Hilal Pırıl;
    • Sarıbaş, Burak;
    • Avcı, Şahin;
    • Börklü, Esra;
    • Beillard, Emmanuel;
    • Yılmaz, Elanur;
    • Uygur, Seyide Ecesu;
    • Kayhan, Cavit Kerem;
    • Bosco, Luca;
    • Eren, Zeynep Bengi;
    • Steindl, Katharina;
    • Richter, Manuela Friederike;
    • Bademci, Guney;
    • Rauch, Anita;
    • Fattahi, Zohreh;
    • Valentino, Maria Lucia;
    • Connolly, Anne M.;
    • Bahr, Angela
    Publication type:
    Article
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    Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39663-3
    By:
    • Conte, Talita C.;
    • Duran-Bishop, Gilberto;
    • Orfi, Zakaria;
    • Mokhtari, Inès;
    • Deprez, Alyson;
    • Côté, Isabelle;
    • Molina, Thomas;
    • Kim, Tae-Yeon;
    • Tellier, Lydia;
    • Roussel, Marie-Pier;
    • Maggiorani, Damien;
    • Benabdallah, Basma;
    • Leclerc, Severine;
    • Feulner, Lara;
    • Pellerito, Ornella;
    • Mathieu, Jean;
    • Andelfinger, Gregor;
    • Gagnon, Cynthia;
    • Beauséjour, Christian;
    • McGraw, Serge
    Publication type:
    Article
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    Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0218-1
    By:
    • Salort-Campana, Emmanuelle;
    • Nguyen, Karine;
    • Bernard, Rafaelle;
    • Jouve, Elisabeth;
    • Solé, Guilhem;
    • Nadaj-Pakleza, Aleksandra;
    • Niederhauser, Julien;
    • Charles, Estelle;
    • Ollagnon, Elisabeth;
    • Bouhour, Françoise;
    • Sacconi, Sabrina;
    • Echaniz-Laguna, Andoni;
    • Desnuelle, Claude;
    • Tranchant, Christine;
    • Vial, Christophe;
    • Magdinier, Frederique;
    • Bartoli, Marc;
    • Arne-Bes, Marie-Christine;
    • Ferrer, Xavier;
    • Kuntzer, Thierry
    Publication type:
    Article
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    Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 22, doi. 10.1186/s13023-014-0218-1
    By:
    • Salort-Campana, Emmanuelle;
    • Nguyen, Karine;
    • Bernard, Rafaelle;
    • Jouve, Elisabeth;
    • Solé, Guilhem;
    • Nadaj-Pakleza, Aleksandra;
    • Niederhauser, Julien;
    • Charles, Estelle;
    • Ollagnon, Elisabeth;
    • Bouhour, Françoise;
    • Sacconi, Sabrina;
    • Echaniz-Laguna, Andoni;
    • Desnuelle, Claude;
    • Tranchant, Christine;
    • Vial, Christophe;
    • Magdinier, Frederique;
    • Bartoli, Marc;
    • Arne-Bes, Marie-Christine;
    • Ferrer, Xavier;
    • Kuntzer, Thierry
    Publication type:
    Article
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    Differential diagnosis of vacuolar myopathies in the NGS era.

    Published in:
    Brain Pathology, 2020, v. 30, n. 5, p. 877, doi. 10.1111/bpa.12864
    By:
    • Mair, Dorothea;
    • Biskup, Saskia;
    • Kress, Wolfram;
    • Abicht, Angela;
    • Brück, Wolfgang;
    • Zechel, Sabrina;
    • Knop, Karl Christian;
    • Koenig, Fatima Barbara;
    • Tey, Shelisa;
    • Nikolin, Stefan;
    • Eggermann, Katja;
    • Kurth, Ingo;
    • Ferbert, Andreas;
    • Weis, Joachim
    Publication type:
    Article
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    GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.

    Published in:
    2020
    By:
    • Foley, A. Reghan;
    • Zou, Yaqun;
    • Dunford, James E.;
    • Rooney, Jachinta;
    • Chandra, Goutam;
    • Xiong, Hui;
    • Straub, Volker;
    • Voit, Thomas;
    • Romero, Norma;
    • Donkervoort, Sandra;
    • Hu, Ying;
    • Markello, Thomas;
    • Horn, Adam;
    • Qebibo, Leila;
    • Dastgir, Jahannaz;
    • Meilleur, Katherine G.;
    • Finkel, Richard S.;
    • Fan, Yanbin;
    • Mamchaoui, Kamel;
    • Duguez, Stephanie
    Publication type:
    journal article
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    POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.

    Published in:
    2019
    By:
    • Vissing, John;
    • Johnson, Katherine;
    • Töpf, Ana;
    • Nafissi, Shahriar;
    • Díaz‐Manera, Jordi;
    • French, Vanessa M.;
    • Schindler, Roland F.;
    • Sarathchandra, Padmini;
    • Løkken, Nicoline;
    • Rinné, Susanne;
    • Freund, Max;
    • Decher, Niels;
    • Müller, Thomas;
    • Duno, Morten;
    • Krag, Thomas;
    • Brand, Thomas;
    • Straub, Volker;
    • Díaz-Manera, Jordi
    Publication type:
    journal article
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