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Cardiac α-actin over-expression therapy in dominant ACTA1 disease.
Ravenscroft G, McNamara E, Griffiths LM, Papadimitriou JM, Hardeman EC, Bakker AJ, Davies KE, Laing NG, Nowak KJ. Ravenscroft G, et al. Among authors: hardeman ec. Hum Mol Genet. 2013 Oct 1;22(19):3987-97. doi: 10.1093/hmg/ddt252. Epub 2013 Jun 4. Hum Mol Genet. 2013. PMID: 23736297
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN. Ilkovski B, et al. Among authors: hardeman ec. Am J Hum Genet. 2001 Jun;68(6):1333-43. doi: 10.1086/320605. Epub 2001 Apr 27. Am J Hum Genet. 2001. PMID: 11333380 Free PMC article.
Skeletal muscle repair in a mouse model of nemaline myopathy.
Sanoudou D, Corbett MA, Han M, Ghoddusi M, Nguyen MA, Vlahovich N, Hardeman EC, Beggs AH. Sanoudou D, et al. Among authors: hardeman ec. Hum Mol Genet. 2006 Sep 1;15(17):2603-12. doi: 10.1093/hmg/ddl186. Epub 2006 Jul 28. Hum Mol Genet. 2006. PMID: 16877500 Free PMC article.
An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance.
MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN. MacArthur DG, et al. Among authors: hardeman ec. Hum Mol Genet. 2008 Apr 15;17(8):1076-86. doi: 10.1093/hmg/ddm380. Epub 2008 Jan 4. Hum Mol Genet. 2008. PMID: 18178581
142 results