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Page 1
Epigenetic changes and non-coding expanded repeats.
Nakamori M, Thornton C. Nakamori M, et al. Neurobiol Dis. 2010 Jul;39(1):21-7. doi: 10.1016/j.nbd.2010.02.004. Epub 2010 Feb 18. Neurobiol Dis. 2010. PMID: 20171282 Free PMC article. Review.
Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.
Mulders SA, van den Broek WJ, Wheeler TM, Croes HJ, van Kuik-Romeijn P, de Kimpe SJ, Furling D, Platenburg GJ, Gourdon G, Thornton CA, Wieringa B, Wansink DG. Mulders SA, et al. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13915-20. doi: 10.1073/pnas.0905780106. Epub 2009 Aug 10. Proc Natl Acad Sci U S A. 2009. PMID: 19667189 Free PMC article.
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.
Yadava RS, Frenzel-McCardell CD, Yu Q, Srinivasan V, Tucker AL, Puymirat J, Thornton CA, Prall OW, Harvey RP, Mahadevan MS. Yadava RS, et al. Nat Genet. 2008 Jan;40(1):61-8. doi: 10.1038/ng.2007.28. Epub 2007 Dec 16. Nat Genet. 2008. PMID: 18084293 Free PMC article.
Splicing biomarkers of disease severity in myotonic dystrophy.
Nakamori M, Sobczak K, Puwanant A, Welle S, Eichinger K, Pandya S, Dekdebrun J, Heatwole CR, McDermott MP, Chen T, Cline M, Tawil R, Osborne RJ, Wheeler TM, Swanson MS, Moxley RT 3rd, Thornton CA. Nakamori M, et al. Ann Neurol. 2013 Dec;74(6):862-72. doi: 10.1002/ana.23992. Ann Neurol. 2013. PMID: 23929620 Free PMC article.
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1.
Logigian EL, Martens WB, Moxley RT 4th, McDermott MP, Dilek N, Wiegner AW, Pearson AT, Barbieri CA, Annis CL, Thornton CA, Moxley RT 3rd. Logigian EL, et al. Neurology. 2010 May 4;74(18):1441-8. doi: 10.1212/WNL.0b013e3181dc1a3a. Neurology. 2010. PMID: 20439846 Free PMC article. Clinical Trial.
25 results