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Items: 1 to 20 of 30

1.

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.

Statland JM, Tawil R.

Curr Opin Neurol. 2011 Oct;24(5):423-8. doi: 10.1097/WCO.0b013e32834959af. Review.

PMID:
21734574
2.

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.

van der Maarel SM, Tawil R, Tapscott SJ.

Trends Mol Med. 2011 May;17(5):252-8. doi: 10.1016/j.molmed.2011.01.001. Epub 2011 Feb 1. Review.

3.

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

Richards M, Coppée F, Thomas N, Belayew A, Upadhyaya M.

Hum Genet. 2012 Mar;131(3):325-40. doi: 10.1007/s00439-011-1100-z. Epub 2011 Oct 9. Review.

PMID:
21984394
4.

In junk we trust: repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy.

Neguembor MV, Gabellini D.

Epigenomics. 2010 Apr;2(2):271-87. doi: 10.2217/epi.10.8. Review.

PMID:
22121874
5.

Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy.

Dmitriev P, Lipinski M, Vassetzky YS.

Neuromuscul Disord. 2009 Jan;19(1):17-20. doi: 10.1016/j.nmd.2008.09.004. Epub 2008 Oct 29. Review.

PMID:
18974002
6.

Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.

van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ.

Curr Opin Neurol. 2012 Oct;25(5):614-20. doi: 10.1097/WCO.0b013e328357f22d. Review.

7.

Deciphering transcription dysregulation in FSH muscular dystrophy.

Ehrlich M, Lacey M.

J Hum Genet. 2012 Aug;57(8):477-84. doi: 10.1038/jhg.2012.74. Epub 2012 Jun 21. Review.

8.

Molecular basis of facioscapulohumeral muscular dystrophy.

Tupler R, Gabellini D.

Cell Mol Life Sci. 2004 Mar;61(5):557-66. Review.

PMID:
15004695
9.

Facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Desnuelle C.

Biochim Biophys Acta. 2015 Apr;1852(4):607-14. doi: 10.1016/j.bbadis.2014.05.021. Epub 2014 May 29. Review.

10.

Genetic and epigenetic contributors to FSHD.

Daxinger L, Tapscott SJ, van der Maarel SM.

Curr Opin Genet Dev. 2015 Aug;33:56-61. doi: 10.1016/j.gde.2015.08.007. Epub 2015 Sep 7. Review.

11.

Facioscapulohumeral muscular dystrophy.

Tawil R, Van Der Maarel SM.

Muscle Nerve. 2006 Jul;34(1):1-15. Review.

PMID:
16508966
12.

Facioscapulohumeral muscular dystrophy.

Tawil R.

Curr Neurol Neurosci Rep. 2004 Jan;4(1):51-4. Review.

PMID:
14683629
13.

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.

Tawil R, van der Maarel SM, Tapscott SJ.

Skelet Muscle. 2014 Jun 10;4:12. doi: 10.1186/2044-5040-4-12. eCollection 2014. Review.

14.

Genomic analysis of facioscapulohumeral muscular dystrophy.

Clapp J, Bolland DJ, Hewitt JE.

Brief Funct Genomic Proteomic. 2003 Oct;2(3):213-23. Review.

15.

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).

Fisher J, Upadhyaya M.

Neuromuscul Disord. 1997 Jan;7(1):55-62. Review.

PMID:
9132141
16.

Molecular diagnosis of facioscapulohumeral muscular dystrophy.

Upadhyaya M, Cooper DN.

Expert Rev Mol Diagn. 2002 Mar;2(2):160-71. Review.

PMID:
11962336
17.

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.

de Greef JC, Frants RR, van der Maarel SM.

Mutat Res. 2008 Dec 1;647(1-2):94-102. doi: 10.1016/j.mrfmmm.2008.07.011. Epub 2008 Aug 3. Review.

18.

Facioscapulohumeral Muscular Dystrophy.

Lemmers RJLF, Miller DG, van der Maarel SM.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
1999 Mar 08 [updated 2014 Mar 20].

19.

The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.

Cabianca DS, Gabellini D.

J Cell Biol. 2010 Dec 13;191(6):1049-60. doi: 10.1083/jcb.201007028. Review.

20.

Facioscapulohumeral muscular dystrophy.

Statland J, Tawil R.

Neurol Clin. 2014 Aug;32(3):721-8, ix. doi: 10.1016/j.ncl.2014.04.003. Epub 2014 May 15. Review.

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