Laing NG - Search Results

1

Cardiac α-actin over-expression therapy in dominant ACTA1 disease.

Ravenscroft G, McNamara E, Griffiths LM, Papadimitriou JM, Hardeman EC, Bakker AJ, Davies KE, Laing NG, Nowak KJ. Ravenscroft G, et al. Among authors: laing ng. Hum Mol Genet. 2013 Oct 1;22(19):3987-97. doi: 10.1093/hmg/ddt252. Epub 2013 Jun 4. Hum Mol Genet. 2013. PMID: 23736297

2

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. Among authors: laing ng. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519

3

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: laing ng. Neuromuscul Disord. 2001 Jan;11(1):35-40. doi: 10.1016/s0960-8966(00)00167-x. Neuromuscul Disord. 2001. PMID: 11166164

4

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: laing ng. 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.

5

Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.

Thirion C, Stucka R, Mendel B, Gruhler A, Jaksch M, Nowak KJ, Binz N, Laing NG, Lochmüller H. Thirion C, et al. Among authors: laing ng. Eur J Biochem. 2001 Jun;268(12):3473-82. doi: 10.1046/j.1432-1327.2001.02247.x. Eur J Biochem. 2001. PMID: 11422377 Free article.

6

Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.

Buxmann H, Schlösser R, Schlote W, Sewell A, Nowak KJ, Laing NG, Loewenich V. Buxmann H, et al. Among authors: laing ng. Neuropediatrics. 2001 Oct;32(5):267-70. doi: 10.1055/s-2001-19122. Neuropediatrics. 2001. PMID: 11748499

7

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: laing ng. 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

8

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: laing ng. Neuromuscul Disord. 2003 Sep;13(7-8):519-31. doi: 10.1016/s0960-8966(03)00101-9. Neuromuscul Disord. 2003. PMID: 12921789 Review.

9

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: laing ng. 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

10

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: laing ng. J Cell Sci. 2004 Jul 1;117(Pt 15):3367-77. doi: 10.1242/jcs.01172. J Cell Sci. 2004. PMID: 15226407

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