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Items: 17

1.

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.

Charlet-B N, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA.

Mol Cell. 2002 Jul;10(1):45-53.

2.

Myotonic dystrophy: emerging mechanisms for DM1 and DM2.

Cho DH, Tapscott SJ.

Biochim Biophys Acta. 2007 Feb;1772(2):195-204. Epub 2006 Jun 20. Review.

3.

RNA pathogenesis of the myotonic dystrophies.

Day JW, Ranum LP.

Neuromuscul Disord. 2005 Jan;15(1):5-16. Epub 2004 Nov 26. Review.

PMID:
15639115
4.

Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.

Kuyumcu-Martinez NM, Cooper TA.

Prog Mol Subcell Biol. 2006;44:133-59. Review.

5.

Molecular mechanisms of muscle atrophy in myotonic dystrophies.

Timchenko L.

Int J Biochem Cell Biol. 2013 Oct;45(10):2280-7. doi: 10.1016/j.biocel.2013.06.010. Epub 2013 Jun 21. Review.

6.

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.

Ranum LP, Day JW.

Curr Neurol Neurosci Rep. 2002 Sep;2(5):465-70. Review.

PMID:
12169228
7.

Myotonic dystrophy: RNA pathogenesis comes into focus.

Ranum LP, Day JW.

Am J Hum Genet. 2004 May;74(5):793-804. Epub 2004 Apr 2. Review.

8.

Gain of RNA function in pathological cases: Focus on myotonic dystrophy.

Klein AF, Gasnier E, Furling D.

Biochimie. 2011 Nov;93(11):2006-12. doi: 10.1016/j.biochi.2011.06.028. Epub 2011 Jul 13. Review.

PMID:
21763392
9.
10.

Pathogenic mechanisms of myotonic dystrophy.

Lee JE, Cooper TA.

Biochem Soc Trans. 2009 Dec;37(Pt 6):1281-6. doi: 10.1042/BST0371281. Review.

11.

[Myotonia and cardiac conduction defects in myotonic dystrophy and defect in ion channels].

Kubota T, Nakamori M, Takahashi MP.

Rinsho Byori. 2014 Mar;62(3):246-54. Review. Japanese.

PMID:
24800500
12.

Molecular mechanisms in DM1 - a focus on foci.

Pettersson OJ, Aagaard L, Jensen TG, Damgaard CK.

Nucleic Acids Res. 2015 Feb 27;43(4):2433-41. doi: 10.1093/nar/gkv029. Epub 2015 Jan 20. Review.

13.

Alternative splicing and muscular dystrophy.

Pistoni M, Ghigna C, Gabellini D.

RNA Biol. 2010 Jul-Aug;7(4):441-52. Epub 2010 Jul 1. Review.

14.

Tailoring of membrane proteins by alternative splicing of pre-mRNA.

Mittendorf KF, Deatherage CL, Ohi MD, Sanders CR.

Biochemistry. 2012 Jul 17;51(28):5541-56. Epub 2012 Jun 29. Review.

15.

CUG-BP, Elav-like family (CELF)-mediated alternative splicing regulation in the brain during health and disease.

Ladd AN.

Mol Cell Neurosci. 2013 Sep;56:456-64. doi: 10.1016/j.mcn.2012.12.003. Epub 2012 Dec 14. Review.

16.

Impaired pre-mRNA processing and altered architecture of 3' untranslated regions contribute to the development of human disorders.

Michalova E, Vojtesek B, Hrstka R.

Int J Mol Sci. 2013 Jul 26;14(8):15681-94. doi: 10.3390/ijms140815681. Review.

17.

RNA Transcription and Maturation in Skeletal Muscle Cells are Similarly Impaired in Myotonic Dystrophy and Sarcopenia: The Ultrastructural Evidence.

Malatesta M, Cardani R, Pellicciari C, Meola G.

Front Aging Neurosci. 2014 Jul 30;6:196. doi: 10.3389/fnagi.2014.00196. eCollection 2014. Review. No abstract available.

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