Ravenscroft G - Search Results

1

Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report.

Ashton C, Davis M, Laing N, Ravenscroft G, Lamont P. Ashton C, et al. Among authors: ravenscroft g. Neurol Genet. 2023 Mar 31;9(2):e200067. doi: 10.1212/NXG.0000000000200067. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090937 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

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.

4

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

5

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

6

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

7

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

8

Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin.

Nowak KJ, Ravenscroft G, Jackaman C, Filipovska A, Davies SM, Lim EM, Squire SE, Potter AC, Baker E, Clément S, Sewry CA, Fabian V, Crawford K, Lessard JL, Griffiths LM, Papadimitriou JM, Shen Y, Morahan G, Bakker AJ, Davies KE, Laing NG. Nowak KJ, et al. Among authors: ravenscroft g. J Cell Biol. 2009 Jun 1;185(5):903-15. doi: 10.1083/jcb.200812132. Epub 2009 May 25. J Cell Biol. 2009. PMID: 19468071 Free PMC article.

9

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

10

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

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