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SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong CJ, Yao Z, Lim JW, Filippova GN, Ne E, Tawil R, Heijmans BT, Tapscott SJ, van der Maarel SM. Mason AG, et al. Among authors: tawil r. Skelet Muscle. 2017 Jun 6;7(1):12. doi: 10.1186/s13395-017-0129-7. Skelet Muscle. 2017. PMID: 28587678 Free PMC article.
Facioscapulohumeral muscular dystrophy.
Tawil R, Van Der Maarel SM. Tawil R, et al. 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: tawil r. 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.
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: tawil r. Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19. Science. 2010. PMID: 20724583 Free PMC article.
Clinical features of facioscapulohumeral muscular dystrophy 2.
de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R. de Greef JC, et al. Among authors: tawil r. Neurology. 2010 Oct 26;75(17):1548-54. doi: 10.1212/WNL.0b013e3181f96175. Neurology. 2010. PMID: 20975055 Free PMC article.
230 results