Cooper S - Search Results

1

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. O'Grady GL, et al. Among authors: cooper s. Ann Neurol. 2016 Jul;80(1):101-11. doi: 10.1002/ana.24687. Epub 2016 May 25. Ann Neurol. 2016. PMID: 27159402

2

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: cooper st. 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.

3

Single section Western blot: improving the molecular diagnosis of the muscular dystrophies.

Cooper ST, Lo HP, North KN. Cooper ST, et al. Neurology. 2003 Jul 8;61(1):93-7. doi: 10.1212/01.wnl.0000069460.53438.38. Neurology. 2003. PMID: 12847163

4

Expression of aquaporin 1 in human cardiac and skeletal muscle.

Au CG, Cooper ST, Lo HP, Compton AG, Yang N, Wintour EM, North KN, Winlaw DS. Au CG, et al. Among authors: cooper st. J Mol Cell Cardiol. 2004 May;36(5):655-62. doi: 10.1016/j.yjmcc.2004.01.009. J Mol Cell Cardiol. 2004. PMID: 15135660

5

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST. Ilkovski B, et al. Among authors: cooper st. Hum Mol Genet. 2004 Aug 15;13(16):1727-43. doi: 10.1093/hmg/ddh185. Epub 2004 Jun 15. Hum Mol Genet. 2004. PMID: 15198992

6

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

Corbett MA, Akkari PA, Domazetovska A, Cooper ST, North KN, Laing NG, Gunning PW, Hardeman EC. Corbett MA, et al. Ann Neurol. 2005 Jan;57(1):42-9. doi: 10.1002/ana.20305. Ann Neurol. 2005. PMID: 15562513

7

The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders.

Compton AG, Cooper ST, Hill PM, Yang N, Froehner SC, North KN. Compton AG, et al. J Neuropathol Exp Neurol. 2005 Apr;64(4):350-61. doi: 10.1093/jnen/64.4.350. J Neuropathol Exp Neurol. 2005. PMID: 15835271

8

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.

Ilkovski B, Clement S, Sewry C, North KN, Cooper ST. Ilkovski B, et al. Among authors: cooper st. Neuromuscul Disord. 2005 Dec;15(12):829-35. doi: 10.1016/j.nmd.2005.08.004. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288873

9

Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis.

Cooper ST, Kizana E, Yates JD, Lo HP, Yang N, Wu ZH, Alexander IE, North KN. Cooper ST, et al. Neuromuscul Disord. 2007 Apr;17(4):276-84. doi: 10.1016/j.nmd.2006.12.010. Epub 2007 Feb 15. Neuromuscul Disord. 2007. PMID: 17303423

10

The pathogenesis of ACTA1-related congenital fiber type disproportion.

Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng JJ, Marston S, North K. Clarke NF, et al. Among authors: cooper s. Ann Neurol. 2007 Jun;61(6):552-61. doi: 10.1002/ana.21112. Ann Neurol. 2007. PMID: 17387733

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