Cooper ST - Search Results

1

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium; Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Among authors: cooper st. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.

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. Among authors: cooper st. 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. Among authors: cooper st. 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

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.

Hernández-Deviez DJ, Martin S, Laval SH, Lo HP, Cooper ST, North KN, Bushby K, Parton RG. Hernández-Deviez DJ, et al. Among authors: cooper st. Hum Mol Genet. 2006 Jan 1;15(1):129-42. doi: 10.1093/hmg/ddi434. Epub 2005 Nov 30. Hum Mol Genet. 2006. PMID: 16319126

10

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

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