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KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
Garg A, O'Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, Nelson BR, Beetz N, Li L, Chen S, Laing NG, Grange RW, Bassel-Duby R, Olson EN. Garg A, et al. Among authors: laing ng. J Clin Invest. 2014 Aug;124(8):3529-39. doi: 10.1172/JCI74994. Epub 2014 Jun 24. J Clin Invest. 2014. PMID: 24960163 Free PMC article.
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG. Sambuughin N, et al. Among authors: laing ng. Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109227 Free PMC article.
Fetal akinesia: review of the genetics of the neuromuscular causes.
Ravenscroft G, Sollis E, Charles AK, North KN, Baynam G, Laing NG. Ravenscroft G, et al. Among authors: laing ng. J Med Genet. 2011 Dec;48(12):793-801. doi: 10.1136/jmedgenet-2011-100211. Epub 2011 Oct 7. J Med Genet. 2011. PMID: 21984750 Review.
Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.
Ravenscroft G, Jackaman C, Sewry CA, McNamara E, Squire SE, Potter AC, Papadimitriou J, Griffiths LM, Bakker AJ, Davies KE, Laing NG, Nowak KJ. Ravenscroft G, et al. Among authors: laing ng. PLoS One. 2011;6(12):e28699. doi: 10.1371/journal.pone.0028699. Epub 2011 Dec 9. PLoS One. 2011. PMID: 22174871 Free PMC article.
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
Jain RK, Jayawant S, Squier W, Muntoni F, Sewry CA, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow JC, Ravenscroft G, Nowak KJ, Memo M, Marston SB, Laing NG. Jain RK, et al. Among authors: laing ng. Neurology. 2012 Apr 3;78(14):1100-3. doi: 10.1212/WNL.0b013e31824e8ebe. Epub 2012 Mar 21. Neurology. 2012. PMID: 22442437 No abstract available.
341 results