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2011 | 2 |
2012 | 2 |
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Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.
Trends Mol Med. 2011 May;17(5):252-8. doi: 10.1016/j.molmed.2011.01.001. Epub 2011 Feb 1.
Trends Mol Med. 2011.
PMID: 21288772
Free PMC article.
Review.
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
Sacconi S, Camaño P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, Lopez de Munain Arregui A, van der Maarel SM, Desnuelle C.
Sacconi S, et al.
J Med Genet. 2012 Jan;49(1):41-6. doi: 10.1136/jmedgenet-2011-100101. Epub 2011 Oct 7.
J Med Genet. 2012.
PMID: 21984748
Free PMC article.
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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.
Krom YD, et al.
Am J Pathol. 2012 Oct;181(4):1387-401. doi: 10.1016/j.ajpath.2012.07.007. Epub 2012 Aug 4.
Am J Pathol. 2012.
PMID: 22871573
Free PMC article.
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