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Items: 1 to 20 of 25

1.

Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation.

Bodega B, Ramirez GD, Grasser F, Cheli S, Brunelli S, Mora M, Meneveri R, Marozzi A, Mueller S, Battaglioli E, Ginelli E.

BMC Biol. 2009 Jul 16;7:41. doi: 10.1186/1741-7007-7-41.

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.

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.

4.

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
5.

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
6.

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).

Fisher J, Upadhyaya M.

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

PMID:
9132141
7.

Molecular basis of facioscapulohumeral muscular dystrophy.

Tupler R, Gabellini D.

Cell Mol Life Sci. 2004 Mar;61(5):557-566. doi: 10.1007/s00018-003-3285-3. Review.

PMID:
15004695
8.

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
9.

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.

10.

Genomic analysis of facioscapulohumeral muscular dystrophy.

Clapp J, Bolland DJ, Hewitt JE.

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

PMID:
15239924
11.

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.

12.

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, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1999 Mar 8 [updated 2014 Mar 20].

13.

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.

14.

A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy.

Gatica LV, Rosa AL.

Neuromuscul Disord. 2016 Dec;26(12):844-852. doi: 10.1016/j.nmd.2016.09.015. Epub 2016 Sep 19. Review.

PMID:
27816329
15.

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.

16.

Facioscapulohumeral muscular dystrophy.

van der Maarel SM, Frants RR, Padberg GW.

Biochim Biophys Acta. 2007 Feb;1772(2):186-94. Epub 2006 Jun 6. Review.

17.

Facioscapulohumeral muscular dystrophy.

Tawil R.

Neurotherapeutics. 2008 Oct;5(4):601-6. doi: 10.1016/j.nurt.2008.07.005. Review.

18.

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.

19.

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.

20.

Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.

Himeda CL, Jones TI, Jones PL.

Antioxid Redox Signal. 2015 Jun 1;22(16):1463-82. doi: 10.1089/ars.2014.6090. Epub 2014 Dec 4. Review.

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