Sirito M - Search Results

1

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).

Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, Zhang S, Sirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessman M, Krahe R, Udd B. Sallinen R, et al. Among authors: sirito m. Neuromuscul Disord. 2004 Apr;14(4):274-83. doi: 10.1016/j.nmd.2004.01.002. Neuromuscul Disord. 2004. PMID: 15019706

2

A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeat.

Edwards SF, Sirito M, Krahe R, Sinden RR. Edwards SF, et al. Among authors: sirito m. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3270-5. doi: 10.1073/pnas.0807699106. Epub 2009 Feb 13. Proc Natl Acad Sci U S A. 2009. PMID: 19218442 Free PMC article.

3

Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients.

Salisbury E, Schoser B, Schneider-Gold C, Wang GL, Huichalaf C, Jin B, Sirito M, Sarkar P, Krahe R, Timchenko NA, Timchenko LT. Salisbury E, et al. Among authors: sirito m. Am J Pathol. 2009 Aug;175(2):748-62. doi: 10.2353/ajpath.2009.090047. Epub 2009 Jul 9. Am J Pathol. 2009. PMID: 19590039 Free PMC article.

4

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.

Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, Baggerly KA, Raheem O, Haapasalo H, Suominen T, Holmlund-Hampf J, Paetau A, Cardani R, Meola G, Kalimo H, Edström L, Krahe R, Udd B. Vihola A, et al. Among authors: sirito m. Acta Neuropathol. 2010 Apr;119(4):465-79. doi: 10.1007/s00401-010-0637-6. Epub 2010 Jan 12. Acta Neuropathol. 2010. PMID: 20066428 Free PMC article.

5

Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.

Raheem O, Olufemi SE, Bachinski LL, Vihola A, Sirito M, Holmlund-Hampf J, Haapasalo H, Li YP, Udd B, Krahe R. Raheem O, et al. Among authors: sirito m. Am J Pathol. 2010 Dec;177(6):3025-36. doi: 10.2353/ajpath.2010.100179. Epub 2010 Oct 22. Am J Pathol. 2010. PMID: 20971734 Free PMC article.

6

Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders.

Bachinski LL, Sirito M, Böhme M, Baggerly KA, Udd B, Krahe R. Bachinski LL, et al. Among authors: sirito m. Muscle Nerve. 2010 Dec;42(6):856-63. doi: 10.1002/mus.21789. Muscle Nerve. 2010. PMID: 21104860 Free PMC article.

7

Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2.

Vihola A, Sirito M, Bachinski LL, Raheem O, Screen M, Suominen T, Krahe R, Udd B. Vihola A, et al. Among authors: sirito m. Neuropathol Appl Neurobiol. 2013 Jun;39(4):390-405. doi: 10.1111/j.1365-2990.2012.01289.x. Neuropathol Appl Neurobiol. 2013. PMID: 22758909 Free PMC article.

8

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.

Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, Udd B, Krahe R. Bachinski LL, et al. Among authors: sirito m. Neuromuscul Disord. 2014 Mar;24(3):227-40. doi: 10.1016/j.nmd.2013.11.001. Epub 2013 Nov 15. Neuromuscul Disord. 2014. PMID: 24332166 Free PMC article.

9

Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.

Screen M, Jonson PH, Raheem O, Palmio J, Laaksonen R, Lehtimäki T, Sirito M, Krahe R, Hackman P, Udd B. Screen M, et al. Among authors: sirito m. Am J Pathol. 2014 Aug;184(8):2322-32. doi: 10.1016/j.ajpath.2014.04.013. Epub 2014 Jun 5. Am J Pathol. 2014. PMID: 24907641 Free PMC article.

10

(CCUG)_n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis.

Yenigun VB, Sirito M, Amcheslavky A, Czernuszewicz T, Colonques-Bellmunt J, García-Alcover I, Wojciechowska M, Bolduc C, Chen Z, López Castel A, Krahe R, Bergmann A. Yenigun VB, et al. Among authors: sirito m. Dis Model Mech. 2017 Aug 1;10(8):993-1003. doi: 10.1242/dmm.026179. Epub 2017 Jun 16. Dis Model Mech. 2017. PMID: 28623239 Free PMC article.

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