Center-Authored Papers

Filters: Author is van der Maarel, Silvère M  [Clear All Filters]
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2009
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJLF, Winokur ST, Tawil R et al..  2009.  RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.. Human molecular genetics. 18(13):2414-30. Abstract
2010
Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW et al..  2010.  A unifying genetic model for facioscapulohumeral muscular dystrophy.. Science (New York, N.Y.). 329(5999):1650-3. Abstract
Snider L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ et al..  2010.  Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.. PLoS genetics. 6(10):e1001181. Abstract
2011
van der Maarel SM, Tawil R, Tapscott SJ.  2011.  Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.. Trends in molecular medicine. 17(5):252-8. Abstract
2012
Balog J, Thijssen PE, de Greef JC, Shah B, van Engelen BGM, Yokomori K, Tapscott SJ, Tawil R, van der Maarel SM.  2012.  Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.. Epigenetics : official journal of the DNA Methylation Society. 7(6):579-584. Abstract
van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ.  2012.  Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.. Current opinion in neurology. 25(5):614-20. Abstract
Balog J, Miller D, Sanchez-Curtailles E, Carbo-Marques J, Block G, Potman M, de Knijff P, Lemmers RJLF, Tapscott SJ, van der Maarel SM.  2012.  Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.. European journal of human genetics : EJHG. 20(2):185-191. Abstract
2013
Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS et al..  2013.  Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.. PLoS genetics. 9(4):e1003415. Abstract
Sacconi S, Lemmers RJLF, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L et al..  2013.  The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.. American journal of human genetics. 93(4):744-51. Abstract
Young JM, Whiddon JL, Yao Z, Kasinathan B, Snider L, Geng LN, Balog J, Tawil R, van der Maarel SM, Tapscott SJ.  2013.  DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.. PLoS genetics. 9(11):e1003947. Abstract
2014
Tawil R, van der Maarel SM, Tapscott SJ.  2014.  Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.. Skeletal muscle. 4:12. Abstract
Yao Z, Snider L, Balog J, Lemmers RJLF, van der Maarel SM, Tawil R, Tapscott SJ.  2014.  DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.. Human molecular genetics. Abstract
Adolescent
Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW et al..  2010.  A unifying genetic model for facioscapulohumeral muscular dystrophy.. Science (New York, N.Y.). 329(5999):1650-3. Abstract
Adult
Snider L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ et al..  2010.  Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.. PLoS genetics. 6(10):e1001181. Abstract
Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW et al..  2010.  A unifying genetic model for facioscapulohumeral muscular dystrophy.. Science (New York, N.Y.). 329(5999):1650-3. Abstract
Aged
Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW et al..  2010.  A unifying genetic model for facioscapulohumeral muscular dystrophy.. Science (New York, N.Y.). 329(5999):1650-3. Abstract
Alternative Splicing
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJLF, Winokur ST, Tawil R et al..  2009.  RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.. Human molecular genetics. 18(13):2414-30. Abstract
Amino Acid Sequence
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJLF, Winokur ST, Tawil R et al..  2009.  RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.. Human molecular genetics. 18(13):2414-30. Abstract
Animals
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJLF, Winokur ST, Tawil R et al..  2009.  RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.. Human molecular genetics. 18(13):2414-30. Abstract
Snider L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ et al..  2010.  Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.. PLoS genetics. 6(10):e1001181. Abstract
Antibody Development Core Facility
Snider L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ et al..  2010.  Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.. PLoS genetics. 6(10):e1001181. Abstract
August 2012
Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ et al..  2012.  Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD.. The American journal of pathology. Abstract
Base Sequence
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJLF, Winokur ST, Tawil R et al..  2009.  RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.. Human molecular genetics. 18(13):2414-30. Abstract
Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW et al..  2010.  A unifying genetic model for facioscapulohumeral muscular dystrophy.. Science (New York, N.Y.). 329(5999):1650-3. Abstract
Biologics Production Core Facility
Snider L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ et al..  2010.  Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.. PLoS genetics. 6(10):e1001181. Abstract