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Journal Abstract Search


348 related items for PubMed ID: 29162933

  • 21. Facioscapulohumeral muscular dystrophy.
    Sacconi S, Salviati L, Desnuelle C.
    Biochim Biophys Acta; 2015 Apr; 1852(4):607-14. PubMed ID: 24882751
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  • 22. Facioscapulohumeral muscular dystrophy.
    Tawil R.
    Handb Clin Neurol; 2018 Apr; 148():541-548. PubMed ID: 29478599
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  • 26. Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.
    van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ.
    Curr Opin Neurol; 2012 Oct; 25(5):614-20. PubMed ID: 22892954
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  • 28. Facioscapulohumeral Muscular Dystrophy.
    DeSimone AM, Pakula A, Lek A, Emerson CP.
    Compr Physiol; 2017 Sep 12; 7(4):1229-1279. PubMed ID: 28915324
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  • 29. Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.
    Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, Saade D, Billioux BJ, Meader B, Volochayev R, Konersman CG, Kaindl AM, Cho CH, Russell B, Rodriguez A, Foster KW, Foley AR, Moore SA, Jones PL, Bonnemann CG, Jones T, Shaw ND.
    Neurology; 2022 Mar 29; 98(13):e1384-e1396. PubMed ID: 35121673
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  • 30. PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level.
    Banerji CRS, Zammit PS.
    Hum Mol Genet; 2019 Jul 01; 28(13):2224-2236. PubMed ID: 31067297
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  • 37. A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.
    Goossens R, Tihaya MS, van den Heuvel A, Tabot-Ndip K, Willemsen IM, Tapscott SJ, González-Prieto R, Chang JG, Vertegaal ACO, Balog J, van der Maarel SM.
    Sci Rep; 2021 Dec 08; 11(1):23642. PubMed ID: 34880314
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  • 39. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.
    Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG.
    PLoS Genet; 2010 Oct 28; 6(10):e1001181. PubMed ID: 21060811
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