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Items: 1 to 20 of 44

1.

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.

Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA.

Hum Mol Genet. 2006 Jul 1;15(13):2087-97. Epub 2006 May 22.

PMID:
16717059
2.

The structural basis of myotonic dystrophy from the crystal structure of CUG repeats.

Mooers BH, Logue JS, Berglund JA.

Proc Natl Acad Sci U S A. 2005 Nov 15;102(46):16626-31. Epub 2005 Nov 3.

3.

HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence.

Kim DH, Langlois MA, Lee KB, Riggs AD, Puymirat J, Rossi JJ.

Nucleic Acids Res. 2005 Jul 15;33(12):3866-74. Print 2005.

4.

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S.

Hum Mol Genet. 2005 Aug 1;14(15):2189-200. Epub 2005 Jun 22.

PMID:
15972723
5.

Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy.

Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA.

J Cell Sci. 2005 Jul 1;118(Pt 13):2923-33. Epub 2005 Jun 16.

6.

Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy.

Ho TH, Bundman D, Armstrong DL, Cooper TA.

Hum Mol Genet. 2005 Jun 1;14(11):1539-47. Epub 2005 Apr 20.

PMID:
15843400
7.

Mutations in ZASP define a novel form of muscular dystrophy in humans.

Selcen D, Engel AG.

Ann Neurol. 2005 Feb;57(2):269-76.

PMID:
15668942
8.

Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current.

Berg J, Jiang H, Thornton CA, Cannon SC.

Neurology. 2004 Dec 28;63(12):2371-5.

PMID:
15623702
9.

MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1.

Dansithong W, Paul S, Comai L, Reddy S.

J Biol Chem. 2005 Feb 18;280(7):5773-80. Epub 2004 Nov 16. Erratum in: J Biol Chem. 2005 May 20;280(20):20176.

10.

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.

Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA.

Hum Mol Genet. 2004 Dec 15;13(24):3079-88. Epub 2004 Oct 20.

PMID:
15496431
11.

Pathogenic RNA repeats: an expanding role in genetic disease.

Ranum LP, Day JW.

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

PMID:
15363905
12.

Muscleblind proteins regulate alternative splicing.

Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS, Cooper TA.

EMBO J. 2004 Aug 4;23(15):3103-12. Epub 2004 Jul 15.

13.

Toxic RNA in the nucleus: unstable microsatellite expression in neuromuscular disease.

Nykamp KR, Swanson MS.

Prog Mol Subcell Biol. 2004;35:57-77. Review. No abstract available.

PMID:
15113079
14.

Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats.

Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N, Ishiura S.

Hum Mol Genet. 2004 Mar 1;13(5):495-507. Epub 2004 Jan 13.

PMID:
14722159
15.

Cellular and molecular regulation of muscle regeneration.

Chargé SB, Rudnicki MA.

Physiol Rev. 2004 Jan;84(1):209-38. Review.

16.

Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2.

Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA.

Ann Neurol. 2003 Dec;54(6):760-8.

PMID:
14681885
17.

A muscleblind knockout model for myotonic dystrophy.

Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS.

Science. 2003 Dec 12;302(5652):1978-80.

18.

RNA leaching of transcription factors disrupts transcription in myotonic dystrophy.

Ebralidze A, Wang Y, Petkova V, Ebralidse K, Junghans RP.

Science. 2004 Jan 16;303(5656):383-7. Epub 2003 Dec 4.

19.

RNA structure of trinucleotide repeats associated with human neurological diseases.

Sobczak K, de Mezer M, Michlewski G, Krol J, Krzyzosiak WJ.

Nucleic Acids Res. 2003 Oct 1;31(19):5469-82.

20.

Novel tools for production and purification of recombinant adeno-associated viral vectors.

Harris JD, Beattie SG, Dickson JG.

Methods Mol Med. 2003;76:255-67. No abstract available.

PMID:
12526168

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