Thornton CA - Search Results

1

Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy.

Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA. Wheeler TM, et al. Among authors: thornton ca. J Clin Invest. 2007 Dec;117(12):3952-7. doi: 10.1172/JCI33355. J Clin Invest. 2007. PMID: 18008009 Free PMC article.

2

The myotonic dystrophies.

Thornton C. Thornton C. Semin Neurol. 1999;19(1):25-33. doi: 10.1055/s-2008-1040823. Semin Neurol. 1999. PMID: 10711986 Review.

3

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.

Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA. Mankodi A, et al. Among authors: thornton ca. Mol Cell. 2002 Jul;10(1):35-44. doi: 10.1016/s1097-2765(02)00563-4. Mol Cell. 2002. PMID: 12150905 Free article.

4

Myotonic syndromes.

Mankodi A, Thornton CA. Mankodi A, et al. Among authors: thornton ca. Curr Opin Neurol. 2002 Oct;15(5):545-52. doi: 10.1097/00019052-200210000-00005. Curr Opin Neurol. 2002. PMID: 12351998 Review.

5

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. Kanadia RN, et al. Among authors: thornton ca. Science. 2003 Dec 12;302(5652):1978-80. doi: 10.1126/science.1088583. Science. 2003. PMID: 14671308

6

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. Mankodi A, et al. Among authors: thornton ca. Ann Neurol. 2003 Dec;54(6):760-8. doi: 10.1002/ana.10763. Ann Neurol. 2003. PMID: 14681885

7

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. Jiang H, et al. Among authors: thornton ca. Hum Mol Genet. 2004 Dec 15;13(24):3079-88. doi: 10.1093/hmg/ddh327. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496431

8

Nuclear RNA foci in the heart in myotonic dystrophy.

Mankodi A, Lin X, Blaxall BC, Swanson MS, Thornton CA. Mankodi A, et al. Among authors: thornton ca. Circ Res. 2005 Nov 25;97(11):1152-5. doi: 10.1161/01.RES.0000193598.89753.e3. Epub 2005 Oct 27. Circ Res. 2005. PMID: 16254211

9

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. Lin X, et al. Among authors: thornton ca. Hum Mol Genet. 2006 Jul 1;15(13):2087-97. doi: 10.1093/hmg/ddl132. Epub 2006 May 22. Hum Mol Genet. 2006. PMID: 16717059

10

Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy.

Kanadia RN, Shin J, Yuan Y, Beattie SG, Wheeler TM, Thornton CA, Swanson MS. Kanadia RN, et al. Among authors: thornton ca. Proc Natl Acad Sci U S A. 2006 Aug 1;103(31):11748-53. doi: 10.1073/pnas.0604970103. Epub 2006 Jul 24. Proc Natl Acad Sci U S A. 2006. PMID: 16864772 Free PMC article.

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