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Gene therapy for Duchenne muscular dystrophy.
Verhaart IE, Aartsma-Rus A. Verhaart IE, et al. Curr Opin Neurol. 2012 Oct;25(5):588-96. doi: 10.1097/WCO.0b013e328357b0be. Curr Opin Neurol. 2012. PMID: 22892952 Review.
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
de Brouwer AP, Nabuurs SB, Verhaart IE, Oudakker AR, Hordijk R, Yntema HG, Hordijk-Hos JM, Voesenek K, de Vries BB, van Essen T, Chen W, Hu H, Chelly J, den Dunnen JT, Kalscheuer VM, Aartsma-Rus AM, Hamel BC, van Bokhoven H, Kleefstra T. de Brouwer AP, et al. Eur J Hum Genet. 2014 Apr;22(4):480-5. doi: 10.1038/ejhg.2013.169. Epub 2013 Jul 31. Eur J Hum Genet. 2014. PMID: 23900271 Free PMC article.
DMD transcript imbalance determines dystrophin levels.
Spitali P, van den Bergen JC, Verhaart IE, Wokke B, Janson AA, van den Eijnde R, den Dunnen JT, Laros JF, Verschuuren JJ, 't Hoen PA, Aartsma-Rus A. Spitali P, et al. FASEB J. 2013 Dec;27(12):4909-16. doi: 10.1096/fj.13-232025. Epub 2013 Aug 23. FASEB J. 2013. PMID: 23975932
Low dystrophin levels in heart can delay heart failure in mdx mice.
van Putten M, van der Pijl EM, Hulsker M, Verhaart IE, Nadarajah VD, van der Weerd L, Aartsma-Rus A. van Putten M, et al. J Mol Cell Cardiol. 2014 Apr;69:17-23. doi: 10.1016/j.yjmcc.2014.01.009. Epub 2014 Jan 29. J Mol Cell Cardiol. 2014. PMID: 24486194
23 results