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Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.
Nowak KJ, Ravenscroft G, Laing NG. Nowak KJ, et al. Acta Neuropathol. 2013 Jan;125(1):19-32. doi: 10.1007/s00401-012-1019-z. Epub 2012 Jul 24. Acta Neuropathol. 2013. PMID: 22825594 Review.
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Nowak KJ, et al. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F. Jungbluth H, et al. Among authors: nowak kj. Neuromuscul Disord. 2001 Jan;11(1):35-40. doi: 10.1016/s0960-8966(00)00167-x. Neuromuscul Disord. 2001. PMID: 11166164
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: nowak k. 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.
Production of human skeletal alpha-actin proteins by the baculovirus expression system.
Anthony Akkari P, Nowak KJ, Beckman K, Walker KR, Schachat F, Laing NG. Anthony Akkari P, et al. Among authors: nowak kj. Biochem Biophys Res Commun. 2003 Jul 18;307(1):74-9. doi: 10.1016/s0006-291x(03)01133-1. Biochem Biophys Res Commun. 2003. PMID: 12849983
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG. Sparrow JC, et al. Among authors: nowak kj. Neuromuscul Disord. 2003 Sep;13(7-8):519-31. doi: 10.1016/s0960-8966(03)00101-9. Neuromuscul Disord. 2003. PMID: 12921789 Review.
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: nowak kj. 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
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.
Costa CF, Rommelaere H, Waterschoot D, Sethi KK, Nowak KJ, Laing NG, Ampe C, Machesky LM. Costa CF, et al. Among authors: nowak kj. J Cell Sci. 2004 Jul 1;117(Pt 15):3367-77. doi: 10.1242/jcs.01172. J Cell Sci. 2004. PMID: 15226407
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG; ENMC International Consortium On Nemaline Myopathy. Wallgren-Pettersson C, et al. Among authors: nowak kj. Neuromuscul Disord. 2004 Sep;14(8-9):461-70. doi: 10.1016/j.nmd.2004.03.006. Neuromuscul Disord. 2004. PMID: 15336686
When contractile proteins go bad: the sarcomere and skeletal muscle disease.
Laing NG, Nowak KJ. Laing NG, et al. Among authors: nowak kj. Bioessays. 2005 Aug;27(8):809-22. doi: 10.1002/bies.20269. Bioessays. 2005. PMID: 16015601 Review.
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