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Items: 1 to 20 of 26

1.

Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I.

Yoo WK, Park YG, Choi YC, Kim SM.

Yonsei Med J. 2017 Jul;58(4):807-815. doi: 10.3349/ymj.2017.58.4.807.

2.

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE.

Am J Hum Genet. 2017 Mar 2;100(3):488-505. doi: 10.1016/j.ajhg.2017.01.033.

3.

Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.

Ho G, Cardamone M, Farrar M.

World J Clin Pediatr. 2015 Nov 8;4(4):66-80. doi: 10.5409/wjcp.v4.i4.66. eCollection 2015 Nov 8. Review.

4.

Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress.

Koutsoulidou A, Kyriakides TC, Papadimas GK, Christou Y, Kararizou E, Papanicolaou EZ, Phylactou LA.

PLoS One. 2015 Apr 27;10(4):e0125341. doi: 10.1371/journal.pone.0125341. eCollection 2015.

5.

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.

Morales F, Vásquez M, Cuenca P, Campos D, Santamaría C, Del Valle G, Brian R, Sittenfeld M, Monckton DG.

Eur J Hum Genet. 2015 May;23(5):646-53. doi: 10.1038/ejhg.2014.138. Epub 2014 Jul 23.

6.

Myotonic dystrophy.

Thornton CA.

Neurol Clin. 2014 Aug;32(3):705-19, viii. doi: 10.1016/j.ncl.2014.04.011. Epub 2014 Jun 6. Review.

7.

Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling.

Kumar A, Agarwal S, Pradhan S.

Case Rep Med. 2014;2014:289643. doi: 10.1155/2014/289643. Epub 2014 Feb 23.

8.

Chronic pain in neuromuscular disease: pain site and intensity differentially impacts function.

Miró J, Gertz KJ, Carter GT, Jensen MP.

Phys Med Rehabil Clin N Am. 2012 Nov;23(4):895-902. doi: 10.1016/j.pmr.2012.08.008. Epub 2012 Oct 17. Review.

9.

Stabilization of expanded (CTG)•(CAG) repeats by antisense oligonucleotides.

Nakamori M, Gourdon G, Thornton CA.

Mol Ther. 2011 Dec;19(12):2222-7. doi: 10.1038/mt.2011.191. Epub 2011 Oct 4.

10.

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.

11.

Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats.

Nakamori M, Pearson CE, Thornton CA.

Hum Mol Genet. 2011 Feb 1;20(3):580-8. doi: 10.1093/hmg/ddq501. Epub 2010 Nov 18.

12.

Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy.

Jensen MP, Hoffman AJ, Stoelb BL, Abresch RT, Carter GT, McDonald CM.

Arch Phys Med Rehabil. 2008 Feb;89(2):320-8. doi: 10.1016/j.apmr.2007.08.153.

13.

Is it possible to identify infrahissian cardiac conduction abnormalities in myotonic dystrophy by non-invasive methods?

Babuty D, Fauchier L, Tena-Carbi D, Poret P, Leche J, Raynaud M, Fauchier JP, Cosnay P.

Heart. 1999 Nov;82(5):634-7.

14.

Paternal transmission of congenital myotonic dystrophy.

de Die-Smulders CE, Smeets HJ, Loots W, Anten HB, Mirandolle JF, Geraedts JP, Höweler CJ.

J Med Genet. 1997 Nov;34(11):930-3.

15.

Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice.

Roberts R, Timchenko NA, Miller JW, Reddy S, Caskey CT, Swanson MS, Timchenko LT.

Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13221-6.

16.

Instability of normal (CTG)n alleles in the DM kinase gene.

Dow DJ, Rubinsztein DC, Yates JR, Barton DE, Ferguson-Smith MA.

J Med Genet. 1997 Oct;34(10):871-3.

17.

Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.

López de Munain A, Cobo AM, Poza JJ, Navarrete D, Martorell L, Palau F, Emparanza JI, Baiget M.

J Med Genet. 1995 Sep;32(9):689-91.

18.

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

Brunner HG, Brüggenwirth HT, Nillesen W, Jansen G, Hamel BC, Hoppe RL, de Die CE, Höweler CJ, van Oost BA, Wieringa B, et al.

Am J Hum Genet. 1993 Nov;53(5):1016-23.

19.

Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy.

Barceló JM, Pluscauskas M, MacKenzie AE, Tsilfidis C, Narang M, Korneluk RG.

Am J Hum Genet. 1994 Jun;54(6):1124-5. No abstract available.

20.

Molecular basis of hypertrophic and dilated cardiomyopathy.

Marian AJ, Roberts R.

Tex Heart Inst J. 1994;21(1):6-15. Review.

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