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Items: 1 to 20 of 84

1.

RNA-dominant diseases.

Osborne RJ, Thornton CA.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R162-9. Review.

PMID:
16987879
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.

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. Epub 2011 Jul 1. Review.

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.

Myotonic syndromes.

Mankodi A, Thornton CA.

Curr Opin Neurol. 2002 Oct;15(5):545-52. Review.

PMID:
12351998
6.

RNA gain-of-function in spinocerebellar ataxia type 8.

Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, Swanson MS, Ranum LP.

PLoS Genet. 2009 Aug;5(8):e1000600. doi: 10.1371/journal.pgen.1000600. Epub 2009 Aug 14.

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.

RNA-mediated neurodegeneration in repeat expansion disorders.

Todd PK, Paulson HL.

Ann Neurol. 2010 Mar;67(3):291-300. doi: 10.1002/ana.21948. Review.

9.

RNA-mediated neuromuscular disorders.

Ranum LP, Cooper TA.

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

PMID:
16776586
10.

Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.

Das Bhowmik A, Rangaswamaiah S, Srinivas G, Dalal AB.

Eur J Med Genet. 2015 Mar;58(3):160-7. doi: 10.1016/j.ejmg.2014.12.010. Epub 2014 Dec 19.

PMID:
25534560
11.

Triplet repeat mutations in human disease.

Caskey CT, Pizzuti A, Fu YH, Fenwick RG Jr, Nelson DL.

Science. 1992 May 8;256(5058):784-9. Review.

PMID:
1589758
12.

RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity.

Echeverria GV, Cooper TA.

Brain Res. 2012 Jun 26;1462:100-11. doi: 10.1016/j.brainres.2012.02.030. Epub 2012 Feb 22. Review.

13.

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
14.

Trinucleotide repeats: mechanisms and pathophysiology.

Cummings CJ, Zoghbi HY.

Annu Rev Genomics Hum Genet. 2000;1:281-328. Review.

PMID:
11701632
15.

Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges.

Sicot G, Gourdon G, Gomes-Pereira M.

Hum Mol Genet. 2011 Oct 15;20(R2):R116-23. doi: 10.1093/hmg/ddr343. Epub 2011 Aug 5. Review.

PMID:
21821673
16.

Molecular biology. Neutralizing toxic RNA.

Cooper TA.

Science. 2009 Jul 17;325(5938):272-3. doi: 10.1126/science.1177452. No abstract available.

PMID:
19608901
17.

The unstable repeats--three evolving faces of neurological disease.

Nelson DL, Orr HT, Warren ST.

Neuron. 2013 Mar 6;77(5):825-43. doi: 10.1016/j.neuron.2013.02.022. Review.

18.

Nuclear RNA foci in the heart in myotonic dystrophy.

Mankodi A, Lin X, Blaxall BC, Swanson MS, Thornton CA.

Circ Res. 2005 Nov 25;97(11):1152-5. Epub 2005 Oct 27.

19.

Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis.

Galvão R, Mendes-Soares L, Câmara J, Jaco I, Carmo-Fonseca M.

Brain Res Bull. 2001 Oct-Nov 1;56(3-4):191-201. Review.

PMID:
11719250
20.

A novel, unstable DNA mutation cracks decades-old clinical enigma.

Randall T.

JAMA. 1993 Feb 3;269(5):557-8. No abstract available.

PMID:
8421348

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