Ravenscroft G - Search Results

1

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.

Scriba CK, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ghaoui R, Ghia D, Henderson RD, Jordan N, Winkel A, Lamont PJ, Rodrigues MJ, Roxburgh RH, Weisburd B, Laing NG, Deveson IW, Davis MR, Ravenscroft G. Scriba CK, et al. Among authors: ravenscroft g. Brain Commun. 2023 Jul 25;5(4):fcad208. doi: 10.1093/braincomms/fcad208. eCollection 2023. Brain Commun. 2023. PMID: 37621409 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

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.

Memo M, Leung MC, Ward DG, dos Remedios C, Morimoto S, Zhang L, Ravenscroft G, McNamara E, Nowak KJ, Marston SB, Messer AE. Memo M, et al. Among authors: ravenscroft g. Cardiovasc Res. 2013 Jul 1;99(1):65-73. doi: 10.1093/cvr/cvt071. Epub 2013 Mar 27. Cardiovasc Res. 2013. PMID: 23539503

4

Pathology provides clarity in the next-generation sequencing era.

Ravenscroft G. Ravenscroft G. J Neurol Neurosurg Psychiatry. 2015 May;86(5):479-80. doi: 10.1136/jnnp-2014-309564. Epub 2014 Oct 13. J Neurol Neurosurg Psychiatry. 2015. PMID: 25313263 No abstract available.

5

X-ray recordings reveal how a human disease-linked skeletal muscle α-actin mutation leads to contractile dysfunction.

Ochala J, Ravenscroft G, McNamara E, Nowak KJ, Iwamoto H. Ochala J, et al. Among authors: ravenscroft g. J Struct Biol. 2015 Dec;192(3):331-335. doi: 10.1016/j.jsb.2015.09.008. Epub 2015 Sep 25. J Struct Biol. 2015. PMID: 26407659

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

8

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

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

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

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