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Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Riley LG, Waddell LB, Ghaoui R, Evesson FJ, Cummings BB, Bryen SJ, Joshi H, Wang MX, Brammah S, Kritharides L, Corbett A, MacArthur DG, Cooper ST. Riley LG, et al. Among authors: cooper st. Eur J Hum Genet. 2019 Aug;27(8):1267-1273. doi: 10.1038/s41431-019-0393-6. Epub 2019 Apr 25. Eur J Hum Genet. 2019. PMID: 31024060 Free PMC article.
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.
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
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.
140 results