检索结果 - Silvère M. van der Maarel

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  1. 1
    The D4Z4 Repeat–Mediated Pathogenesis of Facioscapulohumeral Muscular Dystrophy

    The D4Z4 Repeat–Mediated Pathogenesis of Facioscapulohumeral Muscular Dystrophy 由 Silvère M. van der Maarel, Rune R. Frants

    出版 2005
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  2. 2
    Genetic and epigenetic contributors to FSHD

    Genetic and epigenetic contributors to FSHD 由 Lucia Daxinger, Stephen J. Tapscott, Silvère M. van der Maarel

    出版 2015
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  3. 3
    Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

    Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence 由 Silvère M. van der Maarel, Rabi Tawil, Stephen J. Tapscott

    出版 2011
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  4. 4
    Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

    Facioscapulohumeral dystrophy: the path to consensus on pathophysiology 由 Rabi Tawil, Silvère M. van der Maarel, Stephen J. Tapscott

    出版 2014
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  5. 5
    Facioscapulohumeral muscular dystrophy

    Facioscapulohumeral muscular dystrophy 由 Silvère M. van der Maarel, Rune R. Frants, George W. Padberg

    出版 2006
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  6. 6
    Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

    Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy 由 Anna Greco, Remko Goossens, Baziel G.M. van Engelen, Silvère M. van der Maarel

    出版 2020
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  7. 7
    Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York

    Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York 由 Rabi Tawil, George W. Padberg, Dennis Shaw, Silvère M. van der Maarel, Stephen J. Tapscott

    出版 2015
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  8. 8
    Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy

    Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy 由 Jeffrey Statland, Colleen M. Donlin‐Smith, Stephen J. Tapscott, Silvère M. van der Maarel, Rabi Tawil

    出版 2014
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  9. 9
    Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies

    Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies 由 Jeffrey Statland, Bharati Shah, Don Henderson, Silvère M. van der Maarel, Stephen J. Tapscott, Rabi Tawil

    出版 2015
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  10. 10
    IgG4‐mediated autoimmune diseases: a niche of antibody‐mediated disorders

    IgG4‐mediated autoimmune diseases: a niche of antibody‐mediated disorders 由 Maartje G. Huijbers, Jaap J. Plomp, Silvère M. van der Maarel, Jan J.G.M. Verschuuren

    出版 2018
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  11. 11
    Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands

    Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands 由 Richard J.L.F. Lemmers, Suzanne O’Shea, George W. Padberg, Peter Lunt, Silvère M. van der Maarel

    出版 2011
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  12. 12
    A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

    A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy 由 Qing Feng, Lauren Snider, Sujatha Jagannathan, Rabi Tawil, Silvère M. van der Maarel, Stephen J. Tapscott, Robert K. Bradley

    出版 2015
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  13. 13
    Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy

    Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy 由 Richard J F L Lemmers, Mariëlle Wohlgemuth, Rune R. Frants, George W. Padberg, Éva Morava, Silvère M. van der Maarel

    出版 2004
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  14. 14
    Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle

    Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle 由 Yanchao Huang, Antoine de Morrée, Alexandra van Remoortere, Kate Bushby, Rune R. Frants, Johan T. den Dunnen, Silvère M. van der Maarel

    出版 2008
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  15. 15
    DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

    DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle 由 Zizhen Yao, Lauren Snider, Judit Balog, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Rabi Tawil, Stephen J. Tapscott

    出版 2014
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  16. 16
    A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene

    A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene 由 Y J de Kok, Gerard Merkx, Silvère M. van der Maarel, I Huber, S Malcolm, H.-H. Ropers, Frans P.M. Cremers

    出版 1995
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  17. 17
    Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats

    Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats 由 Jeffrey Statland, Colleen M. Donlin‐Smith, Stephen J. Tapscott, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Rabi Tawil

    出版 2015
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  18. 18
    Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells

    Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells 由 Sujatha Jagannathan, Sean Shadle, Rebecca Resnick, Lauren Snider, Rabi Tawil, Silvère M. van der Maarel, Robert K. Bradley, Stephen J. Tapscott

    出版 2016
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  19. 19
    Pathogenic immune mechanisms at the neuromuscular synapse: the role of specific antibody‐binding epitopes in myasthenia gravis

    Pathogenic immune mechanisms at the neuromuscular synapse: the role of specific antibody‐binding epitopes in myasthenia gravis 由 Maartje G. Huijbers, Alexander F. Lipka, J. J. Plomp, Erik H. Niks, Silvère M. van der Maarel, Jan J.G.M. Verschuuren

    出版 2013
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  20. 20
    NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins

    NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins 由 Amy E. Campbell, Sean Shadle, Sujatha Jagannathan, Jong-Won Lim, Rebecca Resnick, Rabi Tawil, Silvère M. van der Maarel, Stephen J. Tapscott

    出版 2018
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