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Items: 1 to 20 of 134

1.

The myotonic dystrophies: molecular, clinical, and therapeutic challenges.

Udd B, Krahe R.

Lancet Neurol. 2012 Oct;11(10):891-905. doi: 10.1016/S1474-4422(12)70204-1. Review.

PMID:
22995693
2.
3.

Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms.

Meola G, Cardani R.

Biochim Biophys Acta. 2015 Apr;1852(4):594-606. doi: 10.1016/j.bbadis.2014.05.019. Review.

4.
5.

Myotonic syndromes.

Mankodi A, Thornton CA.

Curr Opin Neurol. 2002 Oct;15(5):545-52. Review.

PMID:
12351998
6.

Myotonic dystrophy type 2 and related myotonic disorders.

Meola G, Moxley RT 3rd.

J Neurol. 2004 Oct;251(10):1173-82. Review.

PMID:
15503094
7.

Myotonic dystrophies type 1 and 2: anesthetic care.

Veyckemans F, Scholtes JL.

Paediatr Anaesth. 2013 Sep;23(9):794-803. doi: 10.1111/pan.12120. Review.

PMID:
23384336
8.

The expanding clinical and genetic spectrum of the myotonic dystrophies.

Ricker K.

Acta Neurol Belg. 2000 Sep;100(3):151-5.

PMID:
11098287
9.

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.

10.

Myotonic disorders.

Mankodi A.

Neurol India. 2008 Jul-Sep;56(3):298-304. Review.

11.

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T.

Clin Genet. 2011 Dec;80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x.

PMID:
21204798
12.

[Molecular and genetic aspects of the myotonic conditions].

Morales Montero F, Cuenca Berger P.

Rev Neurol. 2004 Apr 1-15;38(7):668-74. Review. Spanish.

13.

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, van Engelen BG, Schwartz M, Scheffer H.

Eur J Hum Genet. 2012 Dec;20(12):1203-8. doi: 10.1038/ejhg.2012.108.

14.

Myotonic dystrophy: emerging mechanisms for DM1 and DM2.

Cho DH, Tapscott SJ.

Biochim Biophys Acta. 2007 Feb;1772(2):195-204. Review.

15.

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.

Ranum LP, Day JW.

Curr Neurol Neurosci Rep. 2002 Sep;2(5):465-70. Review.

PMID:
12169228
16.

Proximal myotonic myopathy and proximal myotonic dystrophy: two different entities? The phenotypic variability of proximal myotonic syndromes.

Schneider C, Wessig C, Müller CR, Brechtelsbauer D, Grimm T.

Neuromuscul Disord. 2001 Jul;11(5):485-8.

PMID:
11404122
17.

[Myotonic dystrophies: clinical presentation, pathogenesis, diagnostics and therapy].

Finsterer J, Rudnik-Schöneborn S.

Fortschr Neurol Psychiatr. 2015 Jan;83(1):9-17. doi: 10.1055/s-0034-1385734. Review. German.

PMID:
25602187
18.

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. Review.

19.

Muscle wasting in myotonic dystrophies: a model of premature aging.

Mateos-Aierdi AJ, Goicoechea M, Aiastui A, Fernández-Torrón R, Garcia-Puga M, Matheu A, López de Munain A.

Front Aging Neurosci. 2015 Jul 9;7:125. doi: 10.3389/fnagi.2015.00125. Review.

20.

[Myotonic dystrophy - a new insight into a well-known disease].

Lusakowska A, Sułek-Piatkowska A.

Neurol Neurochir Pol. 2010 May-Jun;44(3):264-76. Review. Polish.

PMID:
20625963

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