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Page 1
Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, F Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM. Balog J, et al. Among authors: van der maarel sm, van den boogaard ml, van der vliet pj. Epigenetics. 2015;10(12):1133-42. doi: 10.1080/15592294.2015.1113798. Epigenetics. 2015. PMID: 26575099 Free PMC article.
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.
van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM. van Overveld PG, et al. Among authors: van der maarel sm. Ann Neurol. 2005 Oct;58(4):569-76. doi: 10.1002/ana.20625. Ann Neurol. 2005. PMID: 16178028
Facioscapulohumeral muscular dystrophy.
Tawil R, Van Der Maarel SM. Tawil R, et al. Among authors: van der maarel sm. Muscle Nerve. 2006 Jul;34(1):1-15. doi: 10.1002/mus.20522. Muscle Nerve. 2006. PMID: 16508966 Review.
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.
van Koningsbruggen S, Straasheijm KR, Sterrenburg E, de Graaf N, Dauwerse HG, Frants RR, van der Maarel SM. van Koningsbruggen S, et al. Among authors: van der maarel sm. Chromosoma. 2007 Feb;116(1):53-64. doi: 10.1007/s00412-006-0083-3. Epub 2006 Nov 14. Chromosoma. 2007. PMID: 17103222
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM. de Greef JC, et al. Among authors: van der maarel sm. Neurology. 2007 Sep 4;69(10):1018-26. doi: 10.1212/01.wnl.0000271391.44352.fe. Neurology. 2007. PMID: 17785671
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Lemmers RJ, et al. Among authors: van der maarel sm, van teijlingen cm, van der gaag kj, van der vliet pj. Am J Hum Genet. 2007 Nov;81(5):884-94. doi: 10.1086/521986. Epub 2007 Sep 7. Am J Hum Genet. 2007. PMID: 17924332 Free PMC article.
263 results