Publications by authors named "Padma Sivadorai"

12Publications

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

BMC Ophthalmol 2020 Feb 24;20(1):68. Epub 2020 Feb 24.

Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, 6009, Australia.

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February 2020

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

Muscle Nerve 2015 Jan 22;51(1):140-3. Epub 2014 Nov 22.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, 6 Verdun Street, Perth, Western Australia, 6009, Australia; Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.

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January 2015

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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February 2013

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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January 2011

Tracking the fate of iron in early development of human blood flukes.

Int J Biochem Cell Biol 2007 27;39(9):1646-58. Epub 2007 Apr 27.

Queensland Institute of Medical Research, Herston, Qld 4029, Australia.

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September 2007