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Items: 12

1.

Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1.

Leroy O, Wang J, Maurage CA, Parent M, Cooper T, Buée L, Sergeant N, Andreadis A, Caillet-Boudin ML.

Biochim Biophys Acta. 2006 Apr;1762(4):460-7. Epub 2005 Dec 29.

2.

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
3.

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
4.

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.

5.

Developmental insights into the pathology of and therapeutic strategies for DM1: Back to the basics.

Chau A, Kalsotra A.

Dev Dyn. 2015 Mar;244(3):377-90. doi: 10.1002/dvdy.24240. Epub 2015 Jan 13. Review.

6.

[Myotonic dystrophy - a new insight into a well-known disease].

Lusakowska A, Sułek-Piatkowska A.

Neurol Neurochir Pol. 2010 May-Jun;44(3):264-76. Review. Polish.

PMID:
20625963
7.

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.

8.

Pathogenic mechanisms of myotonic dystrophy.

Lee JE, Cooper TA.

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

9.

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.

10.

Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy.

Caillet-Boudin ML, Fernandez-Gomez FJ, Tran H, Dhaenens CM, Buee L, Sergeant N.

Front Mol Neurosci. 2014 Jan 9;6:57. doi: 10.3389/fnmol.2013.00057. Review.

11.

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.

12.

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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