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Results: 1 to 20 of 22

Cited In for PubMed (Select 8058147)


Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

Cardani R, Bugiardini E, Renna LV, Rossi G, Colombo G, Valaperta R, Novelli G, Botta A, Meola G.

PLoS One. 2013 Dec 20;8(12):e83777. doi: 10.1371/journal.pone.0083777. eCollection 2013.


Diagnostic odyssey of patients with myotonic dystrophy.

Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT 3rd.

J Neurol. 2013 Oct;260(10):2497-504. doi: 10.1007/s00415-013-6993-0. Epub 2013 Jun 27.


Molecular mechanisms of muscle atrophy in myotonic dystrophies.

Timchenko L.

Int J Biochem Cell Biol. 2013 Oct;45(10):2280-7. doi: 10.1016/j.biocel.2013.06.010. Epub 2013 Jun 21. Review.


Sleep disturbances in myotonic dystrophy type 2.

Shepard P, Lam EM, St Louis EK, Dominik J.

Eur Neurol. 2012;68(6):377-80. doi: 10.1159/000342895. Epub 2012 Oct 25.


ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.

Ursu SF, Alekov A, Mao NH, Jurkat-Rott K.

Acta Myol. 2012 Oct;31(2):144-53.


A quantitative measure of handgrip myotonia in non-dystrophic myotonia.

Statland JM, Bundy BN, Wang Y, Trivedi JR, Raja Rayan D, Herbelin L, Donlan M, McLin R, Eichinger KJ, Findlater K, Dewar L, Pandya S, Martens WB, Venance SL, Matthews E, Amato AA, Hanna MG, Griggs RC, Barohn RJ; CINCH Consortium.

Muscle Nerve. 2012 Oct;46(4):482-9. doi: 10.1002/mus.23402.


The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.

Kurosaki T, Ueda S, Ishida T, Abe K, Ohno K, Matsuura T.

PLoS One. 2012;7(6):e38379. doi: 10.1371/journal.pone.0038379. Epub 2012 Jun 19.


If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).

Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT 3rd; Registry Scientific Advisory Committee.

Contemp Clin Trials. 2012 Mar;33(2):302-11. doi: 10.1016/j.cct.2011.11.016. Epub 2011 Nov 26.


RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2.

Jones K, Jin B, Iakova P, Huichalaf C, Sarkar P, Schneider-Gold C, Schoser B, Meola G, Shyu AB, Timchenko N, Timchenko L.

Am J Pathol. 2011 Nov;179(5):2475-89. doi: 10.1016/j.ajpath.2011.07.013. Epub 2011 Sep 1.


Therapeutics development in myotonic dystrophy type 1.

Foff EP, Mahadevan MS.

Muscle Nerve. 2011 Aug;44(2):160-9. doi: 10.1002/mus.22090. Epub 2011 May 23. Review.


Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.

Schoser B, Timchenko L.

Curr Genomics. 2010 Apr;11(2):77-90. doi: 10.2174/138920210790886844.


Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).

Catalli C, Morgante A, Iraci R, Rinaldi F, Botta A, Novelli G.

J Mol Diagn. 2010 Sep;12(5):601-6. doi: 10.2353/jmoldx.2010.090239. Epub 2010 Jul 8.


ZNF9 activation of IRES-mediated translation of the human ODC mRNA is decreased in myotonic dystrophy type 2.

Sammons MA, Antons AK, Bendjennat M, Udd B, Krahe R, Link AJ.

PLoS One. 2010 Feb 18;5(2):e9301. doi: 10.1371/journal.pone.0009301.


Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.

Lehmann-Horn F, Jurkat-Rott K, RĂ¼del R; Ulm Muscle Centre.

Acta Myol. 2008 Dec;27:98-113. Review.


Respiratory involvement in inherited primary muscle conditions.

Shahrizaila N, Kinnear WJ, Wills AJ.

J Neurol Neurosurg Psychiatry. 2006 Oct;77(10):1108-15. Review.


Muscle channelopathies and critical points in functional and genetic studies.

Jurkat-Rott K, Lehmann-Horn F.

J Clin Invest. 2005 Aug;115(8):2000-9. Review.


Myotonic dystrophy: RNA pathogenesis comes into focus.

Ranum LP, Day JW.

Am J Hum Genet. 2004 May;74(5):793-804. Epub 2004 Apr 2. Review.


Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.

Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP.

Am J Hum Genet. 2003 Oct;73(4):849-62. Epub 2003 Sep 22.


Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R.

Am J Hum Genet. 2003 Oct;73(4):835-48. Epub 2003 Sep 10.

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