Publications by authors named "Gianina Ravenscroft"

64Publications

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

Mol Diagn Ther 2020 Dec 30;24(6):641-652. Epub 2020 Sep 30.

Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, 6 Verdun St, Nedlands, WA, 6009, Australia.

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http://dx.doi.org/10.1007/s40291-020-00495-2DOI Listing
December 2020

Cylindrical spirals in two families: Clinical and genetic investigations.

Neuromuscul Disord 2020 02 25;30(2):151-158. Epub 2019 Dec 25.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.12.006DOI Listing
February 2020

Recessive MYH7-related myopathy in two families.

Neuromuscul Disord 2019 06 12;29(6):456-467. Epub 2019 Apr 12.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's&St Thomas' Hospital NHS Foundation Trust, London, UK; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College, London, UK; Department of Clinical and Basic Neuroscience, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.04.002DOI Listing
June 2019

Recent advances in understanding congenital myopathies.

F1000Res 2018 11;7. Epub 2018 Dec 11.

Centre for Medical Research, The University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.12688/f1000research.16422.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290972PMC
March 2019

Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening.

J Med Genet 2018 11 1;55(11):744-752. Epub 2018 Aug 1.

Centre for Medical Research, Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2018-105362DOI Listing
November 2018

Genetics of neuromuscular fetal akinesia in the genomics era.

J Med Genet 2018 08 29;55(8):505-514. Epub 2018 Jun 29.

Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2018-105266DOI Listing
August 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Brain 2017 11;140(11):2851-2859

Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1093/brain/awx230DOI Listing
November 2017

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Neuromuscul Disord 2017 Jul 5;27(7):607-615. Epub 2017 May 5.

Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.04.011DOI Listing
July 2017

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

Neuromuscul Disord 2017 Jun 18;27(6):537-541. Epub 2017 Jan 18.

Harry Perkins Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.

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http://dx.doi.org/10.1016/j.nmd.2017.01.013DOI Listing
June 2017

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Neuromuscul Disord 2016 11 19;26(11):744-748. Epub 2016 Sep 19.

Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.nmd.2016.09.009DOI Listing
November 2016

New era in genetics of early-onset muscle disease: Breakthroughs and challenges.

Semin Cell Dev Biol 2017 04 9;64:160-170. Epub 2016 Aug 9.

Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Australia; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2016.08.002DOI Listing
April 2017

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Neuromuscul Disord 2016 08 11;26(8):504-10. Epub 2016 May 11.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2016.05.006DOI Listing
August 2016

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

J Struct Biol 2015 Dec 25;192(3):331-335. Epub 2015 Sep 25.

Japan Synchrotron Radiation Research Institute, SPring8, Hyogo, Japan.

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http://dx.doi.org/10.1016/j.jsb.2015.09.008DOI Listing
December 2015

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Hum Mol Genet 2015 Nov 24;24(22):6278-92. Epub 2015 Aug 24.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1093/hmg/ddv334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614700PMC
November 2015

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

Brain 2015 Feb 31;138(Pt 2):246-68. Epub 2014 Dec 31.

2 National Institute of Neurological Disorders and Stroke/NIH, Porter Neuroscience Research Centre, Bethesda, MD, USA

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http://dx.doi.org/10.1093/brain/awu368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306824PMC
February 2015

Pathology provides clarity in the next-generation sequencing era.

J Neurol Neurosurg Psychiatry 2015 May 13;86(5):479-80. Epub 2014 Oct 13.

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http://dx.doi.org/10.1136/jnnp-2014-309564DOI Listing
May 2015

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Am J Hum Genet 2014 Aug 31;95(2):218-26. Epub 2014 Jul 31.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129406PMC
August 2014

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

Am J Med Genet A 2014 Jul 29;164A(7):1846-9. Epub 2014 Apr 29.

Pediatric & Reproductive Genetics, SA Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36342DOI Listing
July 2014

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.

J Neurol Neurosurg Psychiatry 2014 Sep 7;85(9):1058-60. Epub 2014 Mar 7.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine Level 2 PP Building, QEII Medical Centre, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1136/jnnp-2014-307608DOI Listing
September 2014

Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.

Hum Mol Genet 2013 Nov 19;22(21):4398-404. Epub 2013 Jun 19.

Centre of Human and Aerospace Physiological Sciences, School of Biomedical Sciences, King's College London, Room 3.3, Shepherd's House, Guy's Campus, London SE1 1UL, UK.

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http://dx.doi.org/10.1093/hmg/ddt289DOI Listing
November 2013

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Neuromuscul Disord 2013 Feb 3;23(2):165-9. Epub 2012 Dec 3.

Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.nmd.2012.11.005DOI Listing
February 2013

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.

Acta Neuropathol 2013 Jan 24;125(1):19-32. Epub 2012 Jul 24.

Centre for Medical Research, The University of Western Australia, Crawley, Australia.

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http://dx.doi.org/10.1007/s00401-012-1019-zDOI Listing
January 2013

Fetal akinesia: review of the genetics of the neuromuscular causes.

J Med Genet 2011 Dec 7;48(12):793-801. Epub 2011 Oct 7.

Centre for Medical Research, University of Western Australia, Western Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2011-100211DOI Listing
December 2011

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

Brain 2011 Apr 8;134(Pt 4):1101-15. Epub 2011 Feb 8.

Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia.

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http://dx.doi.org/10.1093/brain/awr004DOI Listing
April 2011

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

Neuromuscul Disord 2011 Jan 17;21(1):31-6. Epub 2010 Sep 17.

Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia.

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http://dx.doi.org/10.1016/j.nmd.2010.08.005DOI Listing
January 2011

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).

J Proteome Res 2010 Apr;9(4):1985-94

School of Biomedical, Biomolecular and Chemical Sciences, The University of Western Australia, Western Australia, Australia.

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http://dx.doi.org/10.1021/pr9011393DOI Listing
April 2010

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

Neuromuscul Disord 2008 Dec 25;18(12):953-8. Epub 2008 Oct 25.

Centre for Medical Research, University of Western Australia and Western Australian Institute for Medical Research, B Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia.

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http://dx.doi.org/10.1016/j.nmd.2008.09.010DOI Listing
December 2008

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

Cell Motil Cytoskeleton 2007 Dec;64(12):914-25

Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia 6009, Australia.

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http://dx.doi.org/10.1002/cm.20239DOI Listing
December 2007

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

Cell Motil Cytoskeleton 2007 Oct;64(10):727-38

Centre for Medical Research, The University of Western Australia, West Australian Institute for Medical Research, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/cm.20223DOI Listing
October 2007