Ravenscroft G - Search Results

1

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.

Scriba CK, Beecroft SJ, Clayton JS, Cortese A, Sullivan R, Yau WY, Dominik N, Rodrigues M, Walker E, Dyer Z, Wu TY, Davis MR, Chandler DC, Weisburd B, Houlden H, Reilly MM, Laing NG, Lamont PJ, Roxburgh RH, Ravenscroft G. Scriba CK, et al. Among authors: ravenscroft g. Brain. 2020 Oct 1;143(10):2904-2910. doi: 10.1093/brain/awaa263. Brain. 2020. PMID: 33103729 Free PMC article.

2

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.

Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez JJ, Cairns A, Harris E, Marini-Bettolo C, Ravenscroft G, Straub V. Johari M, et al. Among authors: ravenscroft g. medRxiv [Preprint]. 2024 Feb 11:2024.02.10.24302480. doi: 10.1101/2024.02.10.24302480. medRxiv. 2024. Update in: J Med Genet. 2024 Sep 24;61(10):992-998. doi: 10.1136/jmg-2024-109970. PMID: 38370827 Free PMC article. Updated. Preprint.

3

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

4

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. Among authors: ravenscroft g. Cell Motil Cytoskeleton. 2007 Dec;64(12):914-25. doi: 10.1002/cm.20239. Cell Motil Cytoskeleton. 2007. PMID: 17922482

5

Expression of cardiac alpha-actin spares extraocular muscles in skeletal muscle alpha-actin diseases--quantification of striated alpha-actins by MRM-mass spectrometry.

Ravenscroft G, Colley SM, Walker KR, Clement S, Bringans S, Lipscombe R, Fabian VA, Laing NG, Nowak KJ. Ravenscroft G, et al. Neuromuscul Disord. 2008 Dec;18(12):953-8. doi: 10.1016/j.nmd.2008.09.010. Epub 2008 Oct 25. Neuromuscul Disord. 2008. PMID: 18952430

6

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. Among authors: ravenscroft g. J Proteome Res. 2010 Apr 5;9(4):1985-94. doi: 10.1021/pr9011393. J Proteome Res. 2010. PMID: 20131912

7

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

8

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.

Ravenscroft G, Jackaman C, Bringans S, Papadimitriou JM, Griffiths LM, McNamara E, Bakker AJ, Davies KE, Laing NG, Nowak KJ. Ravenscroft G, et al. Brain. 2011 Apr;134(Pt 4):1101-15. doi: 10.1093/brain/awr004. Epub 2011 Feb 8. Brain. 2011. PMID: 21303860

9

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. 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.

10

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. PLoS One. 2011;6(12):e28699. doi: 10.1371/journal.pone.0028699. Epub 2011 Dec 9. PLoS One. 2011. PMID: 22174871 Free PMC article.

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