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Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice
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Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy
Greco, Anna, Goossens, Remko, Engelen, Baziel, Maarel, Silvère M.
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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
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Published in American journal of human genetics (03.10.2013)
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DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy
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Published in eLife (13.03.2018)
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Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers
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Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
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Published in Human mutation (01.10.2009)
Published in Human mutation (01.10.2009)
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A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells
Polman, J Annelies E, Welten, Jennifer E, Bosch, Danny S, de Jonge, Robert T, Balog, Judit, van der Maarel, Silvère M, de Kloet, E Ronald, Datson, Nicole A
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A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression
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Published in Skeletal muscle (04.09.2017)
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Published in PloS one (05.11.2010)
Published in PloS one (05.11.2010)
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