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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.
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ. Snider L, et al. Among authors: van der maarel sm. Hum Mol Genet. 2009 Jul 1;18(13):2414-30. doi: 10.1093/hmg/ddp180. Epub 2009 Apr 9. Hum Mol Genet. 2009. PMID: 19359275 Free PMC article.
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K. Zeng W, et al. Among authors: van der maarel sm. PLoS Genet. 2009 Jul;5(7):e1000559. doi: 10.1371/journal.pgen.1000559. Epub 2009 Jul 10. PLoS Genet. 2009. PMID: 19593370 Free PMC article.
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.
Masny PS, Chan OY, de Greef JC, Bengtsson U, Ehrlich M, Tawil R, Lock LF, Hewitt JE, Stocksdale J, Martin JH, van der Maarel SM, Winokur ST. Masny PS, et al. Among authors: van der maarel sm. Eur J Hum Genet. 2010 Apr;18(4):448-56. doi: 10.1038/ejhg.2009.183. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888305 Free PMC article.
A unifying genetic model for facioscapulohumeral muscular dystrophy.
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. Lemmers RJ, et al. Among authors: van der maarel sm, van ommen gj, van der vliet pj. Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19. Science. 2010. PMID: 20724583 Free PMC article.
262 results