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Items: 1 to 20 of 176


Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells.

Loro E, Rinaldi F, Malena A, Masiero E, Novelli G, Angelini C, Romeo V, Sandri M, Botta A, Vergani L.

Cell Death Differ. 2010 Aug;17(8):1315-24. doi: 10.1038/cdd.2010.33. Epub 2010 Apr 30.


The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients.

Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, Romeo V, Loro E, Viola A, Angelini C, Novelli G.

J Med Genet. 2008 Oct;45(10):639-46. doi: 10.1136/jmg.2008.058909. Epub 2008 Jul 8.


Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1).

Gladman JT, Mandal M, Srinivasan V, Mahadevan MS.

PLoS One. 2013 Sep 5;8(9):e72907. doi: 10.1371/journal.pone.0072907. eCollection 2013.


Mutant DMPK 3'-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD.

Amack JD, Reagan SR, Mahadevan MS.

J Cell Biol. 2002 Nov 11;159(3):419-29. Epub 2002 Nov 11.


Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts.

Langlois MA, Lee NS, Rossi JJ, Puymirat J.

Mol Ther. 2003 May;7(5 Pt 1):670-80.


Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts.

Furling D, Lemieux D, Taneja K, Puymirat J.

Neuromuscul Disord. 2001 Nov;11(8):728-35.


Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

Santoro M, Modoni A, Masciullo M, Gidaro T, Broccolini A, Ricci E, Tonali PA, Silvestri G.

Exp Mol Pathol. 2010 Oct;89(2):158-68. doi: 10.1016/j.yexmp.2010.05.007. Epub 2010 Jun 1.


Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy.

Orengo JP, Chambon P, Metzger D, Mosier DR, Snipes GJ, Cooper TA.

Proc Natl Acad Sci U S A. 2008 Feb 19;105(7):2646-51. doi: 10.1073/pnas.0708519105. Epub 2008 Feb 13.


Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy.

Furling D, Lam le T, Agbulut O, Butler-Browne GS, Morris GE.

Am J Pathol. 2003 Mar;162(3):1001-9.


A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle.

Gudde AE, González-Barriga A, van den Broek WJ, Wieringa B, Wansink DG.

Hum Mol Genet. 2016 Apr 15;25(8):1648-62. doi: 10.1093/hmg/ddw042. Epub 2016 Feb 16.


Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain.

Suenaga K, Lee KY, Nakamori M, Tatsumi Y, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Du H, Ares M Jr, Swanson MS, Kimura T.

PLoS One. 2012;7(3):e33218. doi: 10.1371/journal.pone.0033218. Epub 2012 Mar 13.


Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.

Michel L, Huguet-Lachon A, Gourdon G.

PLoS One. 2015 Sep 4;10(9):e0137620. doi: 10.1371/journal.pone.0137620. eCollection 2015.


Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy.

Mahadevan MS, Yadava RS, Yu Q, Balijepalli S, Frenzel-McCardell CD, Bourne TD, Phillips LH.

Nat Genet. 2006 Sep;38(9):1066-70. Epub 2006 Jul 30.


Altered signal transduction pathways and induction of autophagy in human myotonic dystrophy type 1 myoblasts.

Beffy P, Del Carratore R, Masini M, Furling D, Puymirat J, Masiello P, Simili M.

Int J Biochem Cell Biol. 2010 Dec;42(12):1973-83. doi: 10.1016/j.biocel.2010.08.010. Epub 2010 Aug 24.


Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

Santoro M, Masciullo M, Pietrobono R, Conte G, Modoni A, Bianchi ML, Rizzo V, Pomponi MG, Tasca G, Neri G, Silvestri G.

J Neurol. 2013 May;260(5):1245-57. doi: 10.1007/s00415-012-6779-9. Epub 2012 Dec 23.


Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.

Cardani R, Baldassa S, Botta A, Rinaldi F, Novelli G, Mancinelli E, Meola G.

Neuromuscul Disord. 2009 May;19(5):335-43. doi: 10.1016/j.nmd.2009.03.002. Epub 2009 Apr 3.


Systemic delivery of a Peptide-linked morpholino oligonucleotide neutralizes mutant RNA toxicity in a mouse model of myotonic dystrophy.

Leger AJ, Mosquea LM, Clayton NP, Wu IH, Weeden T, Nelson CA, Phillips L, Roberts E, Piepenhagen PA, Cheng SH, Wentworth BM.

Nucleic Acid Ther. 2013 Apr;23(2):109-17. doi: 10.1089/nat.2012.0404. Epub 2013 Jan 11.


Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1.

Salvatori S, Fanin M, Trevisan CP, Furlan S, Reddy S, Nagy JI, Angelini C.

Neurol Sci. 2005 Oct;26(4):235-42.


Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.

Machuca-Tzili L, Thorpe H, Robinson TE, Sewry C, Brook JD.

Hum Genet. 2006 Nov;120(4):487-99. Epub 2006 Aug 23.


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.


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