Publications by authors named "Anita Cairns"


Transcriptome analysis of a ring chromosome 20 patient cohort.

Epilepsia 2021 Jan 18;62(1):e22-e28. Epub 2020 Nov 18.

Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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January 2021

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Genet Med 2020 Nov 4. Epub 2020 Nov 4.

Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.

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November 2020

Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy.

Neurology 2020 07 8;95(1):e1-e10. Epub 2020 Jun 8.

From the National Perinatal Epidemiology and Statistics Unit (G.M.C., S.N.S.), School of Women's and Children's Health and the Centre for Big Data Research in Health, University of New South Wales (UNSW) Sydney; Discipline of Paediatrics (K.A.C., M.A.F.), School of Women's and Children's Health, UNSW Medicine, UNSW Sydney; Department of Neurology (M.A.F.), Sydney Children's Hospital Randwick; Neurosciences Department (A.C.), Queensland Children's Hospital; Department of Neurology (M.P.M.), Children's Hospital at Westmead; University of Sydney (M.P.M.), New South Wales; Neurosciences Research (M.R.), Murdoch Children's Research Institute, Melbourne, Victoria; and Department of Paediatrics (M.R.), University of Melbourne, Parkville, Victoria, Australia.

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July 2020

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy.

Neuromuscul Disord 2019 03 2;29(3):221-230. Epub 2019 Feb 2.

Telethon Kids Institute, University of Western Australia, PO Box 855, West Perth, WA 6872, Australia; School of Physiotherapy and Exercise Science, Curtin University, GPO Box U1987, Perth, WA 6845, Australia. Electronic address:

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March 2019

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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August 2018