Laing N - Search Results

1

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.

Barnett CP, Todd EJ, Ong R, Davis MR, Atkinson V, Allcock R, Laing N, Ravenscroft G. Barnett CP, et al. Among authors: laing n. Am J Med Genet A. 2014 Jul;164A(7):1846-9. doi: 10.1002/ajmg.a.36342. Epub 2014 Apr 29. Am J Med Genet A. 2014. PMID: 24782201 No abstract available.

2

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.

Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, Laing NG, Vedanarayanan V, Subramony SH. Scacheri PC, et al. Among authors: laing ng. Neurology. 2000 Dec 12;55(11):1689-96. doi: 10.1212/wnl.55.11.1689. Neurology. 2000. PMID: 11113224

3

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. Weaving LS, et al. Among authors: laing n. Am J Med Genet A. 2003 Apr 15;118A(2):103-14. doi: 10.1002/ajmg.a.10053. Am J Med Genet A. 2003. PMID: 12655490

4

Effectiveness of posthumous molecular diagnosis from a kept baby tooth.

Leonard H, Davis MR, Turbett GR, Laing NG, Bower C, Ravine D. Leonard H, et al. Lancet. 2005 Oct 29-Nov 4;366(9496):1584. doi: 10.1016/S0140-6736(05)67631-3. Lancet. 2005. PMID: 16257347 No abstract available.

5

Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1.

Scott AP, Allcock RJ, Mastaglia F, Nishino I, Nonaka I, Laing N. Scott AP, et al. Among authors: laing n. Neuromuscul Disord. 2006 May;16(5):311-5. doi: 10.1016/j.nmd.2006.02.002. Epub 2006 Mar 24. Neuromuscul Disord. 2006. PMID: 16564169

6

Dissociated flexor digitorum brevis myofiber culture system--a more mature muscle culture system.

Ravenscroft G, Nowak KJ, Jackaman C, Clément S, Lyons MA, Gallagher S, Bakker AJ, Laing NG. Ravenscroft G, et al. Cell Motil Cytoskeleton. 2007 Oct;64(10):727-38. doi: 10.1002/cm.20223. Cell Motil Cytoskeleton. 2007. PMID: 17654606

7

Novel application of flow cytometry: determination of muscle fiber types and protein levels in whole murine skeletal muscles and heart.

Jackaman C, Nowak KJ, Ravenscroft G, Lim EM, Clément S, Laing NG. Jackaman C, et al. Cell Motil Cytoskeleton. 2007 Dec;64(12):914-25. doi: 10.1002/cm.20239. Cell Motil Cytoskeleton. 2007. PMID: 17922482

8

Evidence of altered guinea pig ventricular cardiomyocyte protein expression and growth in response to a 5 min in vitro exposure to H(2)O(2).

Seenarain V, Viola HM, Ravenscroft G, Casey TM, Lipscombe RJ, Ingley E, Laing NG, Bringans SD, Hool LC. Seenarain V, et al. J Proteome Res. 2010 Apr 5;9(4):1985-94. doi: 10.1021/pr9011393. J Proteome Res. 2010. PMID: 20131912

9

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.

Ravenscroft G, Wilmshurst JM, Pillay K, Sivadorai P, Wallefeld W, Nowak KJ, Laing NG. Ravenscroft G, et al. Neuromuscul Disord. 2011 Jan;21(1):31-6. doi: 10.1016/j.nmd.2010.08.005. Epub 2010 Sep 17. Neuromuscul Disord. 2011. PMID: 20850316

10

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.

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