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Items: 1 to 20 of 165

1.

RNA-mediated neuromuscular disorders.

Ranum LP, Cooper TA.

Annu Rev Neurosci. 2006;29:259-77. Review.

PMID:
16776586
2.

CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders.

Wojciechowska M, Krzyzosiak WJ.

RNA Biol. 2011 Jul-Aug;8(4):565-71. doi: 10.4161/rna.8.4.15397. Review.

3.

Dominant non-coding repeat expansions in human disease.

Dick KA, Margolis JM, Day JW, Ranum LP.

Genome Dyn. 2006;1:67-83. doi: 10.1159/000092501. Review.

PMID:
18724054
4.

Dominantly inherited, non-coding microsatellite expansion disorders.

Ranum LP, Day JW.

Curr Opin Genet Dev. 2002 Jun;12(3):266-71. Review.

PMID:
12076668
5.

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. Review.

PMID:
21763392
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.

Pathogenic RNA repeats: an expanding role in genetic disease.

Ranum LP, Day JW.

Trends Genet. 2004 Oct;20(10):506-12. Review.

PMID:
15363905
8.

Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.

Ikeda Y, Daughters RS, Ranum LP.

Cerebellum. 2008;7(2):150-8. doi: 10.1007/s12311-008-0010-7.

PMID:
18418692
9.

Myotonic dystrophy: RNA pathogenesis comes into focus.

Ranum LP, Day JW.

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

10.

MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1.

de Haro M, Al-Ramahi I, De Gouyon B, Ukani L, Rosa A, Faustino NA, Ashizawa T, Cooper TA, Botas J.

Hum Mol Genet. 2006 Jul 1;15(13):2138-45.

PMID:
16723374
11.

[Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)].

Matsuura T.

Rinsho Shinkeigaku. 2008 Nov;48(11):823-5. Review. Japanese.

PMID:
19198092
12.

Pathogenic mechanisms of myotonic dystrophy.

Lee JE, Cooper TA.

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

13.

Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.

Rudnicki DD, Holmes SE, Lin MW, Thornton CA, Ross CA, Margolis RL.

Ann Neurol. 2007 Mar;61(3):272-82.

PMID:
17387722
14.

Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy.

Lu X, Timchenko NA, Timchenko LT.

Hum Mol Genet. 1999 Jan;8(1):53-60.

PMID:
9887331
15.

RNA FISH for detecting expanded repeats in human diseases.

Urbanek MO, Krzyzosiak WJ.

Methods. 2016 Apr 1;98:115-23. doi: 10.1016/j.ymeth.2015.11.017.

PMID:
26615955
16.

Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms.

Meola G, Cardani R.

Biochim Biophys Acta. 2015 Apr;1852(4):594-606. doi: 10.1016/j.bbadis.2014.05.019. Review.

17.

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA.

Hum Mol Genet. 2001 Sep 15;10(19):2165-70.

PMID:
11590133
18.

RNA pathogenesis of the myotonic dystrophies.

Day JW, Ranum LP.

Neuromuscul Disord. 2005 Jan;15(1):5-16. Review.

PMID:
15639115
19.

Myotonic dystrophy: emerging mechanisms for DM1 and DM2.

Cho DH, Tapscott SJ.

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

20.

[Molecular pathways to myotonic dystrophy].

Ishiura S.

Nihon Rinsho. 2005 Mar;63(3):515-21. Review. Japanese.

PMID:
15773354

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