Cooper S - Search Results

1

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J. Riley LG, et al. Among authors: cooper s. Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001. Am J Hum Genet. 2010. PMID: 20598274 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

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

4

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

5

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

6

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN. Lo HP, et al. Neuromuscul Disord. 2008 Jan;18(1):34-44. doi: 10.1016/j.nmd.2007.08.009. Epub 2007 Sep 25. Neuromuscul Disord. 2008. PMID: 17897828

7

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.

Au CG, Butler TL, Egan JR, Cooper ST, Lo HP, Compton AG, North KN, Winlaw DS. Au CG, et al. Among authors: cooper st. Acta Neuropathol. 2008 Sep;116(3):235-46. doi: 10.1007/s00401-008-0369-z. Epub 2008 Apr 8. Acta Neuropathol. 2008. PMID: 18392839

8

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN. Compton AG, et al. Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026398 Free PMC article.

9

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P. Gaignard P, et al. Am J Hum Genet. 2013 Aug 8;93(2):384-9. doi: 10.1016/j.ajhg.2013.06.015. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910460 Free PMC article.

10

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Riley LG, Menezes MJ, Rudinger-Thirion J, Duff R, de Lonlay P, Rotig A, Tchan MC, Davis M, Cooper ST, Christodoulou J. Riley LG, et al. Orphanet J Rare Dis. 2013 Dec 17;8:193. doi: 10.1186/1750-1172-8-193. Orphanet J Rare Dis. 2013. PMID: 24344687 Free PMC article.

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