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Items: 15

1.

A focal domain of extreme demethylation within D4Z4 in FSHD2.

Hartweck LM, Anderson LJ, Lemmers RJ, Dandapat A, Toso EA, Dalton JC, Tawil R, Day JW, van der Maarel SM, Kyba M.

Neurology. 2013 Jan 22;80(4):392-9. doi: 10.1212/WNL.0b013e31827f075c. Epub 2013 Jan 2.

2.

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.

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 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.

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.

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.

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
8.

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].

9.

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
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.

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
12.

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.

13.

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.

Hewitt JE.

Hum Mol Genet. 2015 Oct 15;24(R1):R17-23. doi: 10.1093/hmg/ddv237. Epub 2015 Jun 25. Review.

PMID:
26113644
14.

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.

15.

The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.

van der Maarel SM, Frants RR.

Am J Hum Genet. 2005 Mar;76(3):375-86. Epub 2005 Jan 24. Review. No abstract available.

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