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Results: 11

1.

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.

PMID:
24940479
[PubMed]
Free PMC Article
2.

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.

Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S, Lebossé M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, Helmbacher F.

PLoS Genet. 2013 Jun;9(6):e1003550. doi: 10.1371/journal.pgen.1003550. Epub 2013 Jun 13.

PMID:
23785297
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.

Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ, van Engelen BG, Mouly V, Butler-Browne GS, van der Maarel SM.

Am J Pathol. 2012 Oct;181(4):1387-401. doi: 10.1016/j.ajpath.2012.07.007. Epub 2012 Aug 4.

PMID:
22871573
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.

Homma S, Chen JC, Rahimov F, Beermann ML, Hanger K, Bibat GM, Wagner KR, Kunkel LM, Emerson CP Jr, Miller JB.

Eur J Hum Genet. 2012 Apr;20(4):404-10. doi: 10.1038/ejhg.2011.213. Epub 2011 Nov 23.

PMID:
22108603
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

Vanderplanck C, Ansseau E, Charron S, Stricwant N, Tassin A, Laoudj-Chenivesse D, Wilton SD, Coppée F, Belayew A.

PLoS One. 2011;6(10):e26820. doi: 10.1371/journal.pone.0026820. Epub 2011 Oct 28.

PMID:
22053214
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein.

Sun CY, van Koningsbruggen S, Long SW, Straasheijm K, Klooster R, Jones TI, Bellini M, Levesque L, Brieher WM, van der Maarel SM, Jones PL.

J Mol Biol. 2011 Aug 12;411(2):397-416. doi: 10.1016/j.jmb.2011.06.014. Epub 2011 Jun 15.

PMID:
21699900
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1.

Chen SC, Frett E, Marx J, Bosnakovski D, Reed X, Kyba M, Kennedy BK.

PLoS One. 2011;6(5):e19780. doi: 10.1371/journal.pone.0019780. Epub 2011 May 16.

PMID:
21603621
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo.

Wallace LM, Garwick SE, Mei W, Belayew A, Coppee F, Ladner KJ, Guttridge D, Yang J, Harper SQ.

Ann Neurol. 2011 Mar;69(3):540-52. doi: 10.1002/ana.22275. Epub 2010 Dec 8.

PMID:
21446026
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome.

Tremblay DC, Alexander G Jr, Moseley S, Chadwick BP.

BMC Genomics. 2010 Nov 15;11:632. doi: 10.1186/1471-2164-11-632.

PMID:
21078170
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.

Hanel ML, Sun CY, Jones TI, Long SW, Zanotti S, Milner D, Jones PL.

Differentiation. 2011 Feb;81(2):107-18. doi: 10.1016/j.diff.2010.09.185.

PMID:
20970242
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S.

Eur J Hum Genet. 2009 Dec;17(12):1615-24. doi: 10.1038/ejhg.2009.62. Epub 2009 Oct 7.

PMID:
19809486
[PubMed - indexed for MEDLINE]
Free PMC Article

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