Cooper ST - Search Results

1

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Evesson FJ, Dziaduch G, Bryen SJ, Moore F, Pittman S, Devanapalli B, Waddell LB, Ryan MM, Menezes MP, Weihl CC, Tolun AA, Zaidman C, Young H, Adès LC, Cooper ST. Evesson FJ, et al. Among authors: cooper st. Hum Mol Genet. 2023 Jun 5;32(12):2084-2092. doi: 10.1093/hmg/ddad035. Hum Mol Genet. 2023. PMID: 36920481 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

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

4

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. Among authors: cooper st. 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

5

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. Among authors: cooper st. 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.

6

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN. Clarke NF, et al. Among authors: cooper st. Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278. Hum Mutat. 2010. PMID: 20583297

7

Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway.

Evesson FJ, Peat RA, Lek A, Brilot F, Lo HP, Dale RC, Parton RG, North KN, Cooper ST. Evesson FJ, et al. Among authors: cooper st. J Biol Chem. 2010 Sep 10;285(37):28529-39. doi: 10.1074/jbc.M110.111120. Epub 2010 Jul 1. J Biol Chem. 2010. PMID: 20595382 Free PMC article.

8

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. 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.

9

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

Waddell LB, Lemckert FA, Zheng XF, Tran J, Evesson FJ, Hawkes JM, Lek A, Street NE, Lin P, Clarke NF, Landstrom AP, Ackerman MJ, Weisleder N, Ma J, North KN, Cooper ST. Waddell LB, et al. Among authors: cooper st. J Neuropathol Exp Neurol. 2011 Apr;70(4):302-13. doi: 10.1097/NEN.0b013e31821350b0. J Neuropathol Exp Neurol. 2011. PMID: 21412170 Free PMC article.

10

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.

Waddell LB, Monnier N, Cooper ST, North KN, Clarke NF. Waddell LB, et al. Among authors: cooper st. Muscle Nerve. 2011 Aug;44(2):280-2. doi: 10.1002/mus.22118. Muscle Nerve. 2011. PMID: 21755510

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