Publications by authors named "Eppie M Yiu"

48Publications

The effects of calf massage in boys with Duchenne muscular dystrophy: a prospective interventional study.

Disabil Rehabil 2020 May 1:1-7. Epub 2020 May 1.

Department of Neurology, The Royal Children's Hospital, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1080/09638288.2020.1753829DOI Listing
May 2020

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.

JIMD Rep 2020 Jan 12;51(1):11-16. Epub 2019 Nov 12.

Department of Metabolic Medicine Royal Children's Hospital Melbourne Australia.

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http://dx.doi.org/10.1002/jmd2.12081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012737PMC
January 2020

Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort.

J Child Neurol 2020 03 3;35(4):291-296. Epub 2020 Jan 3.

Department of Neurology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1177/0883073819895191DOI Listing
March 2020

Anti-N-Methyl-d-Aspartate Receptor Encephalitis Presenting as Isolated Psychosis in an Adolescent Female.

Pediatr Neurol 2019 08 28;97:76-77. Epub 2019 Mar 28.

Neurology Department, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.016DOI Listing
August 2019

Probing the multifactorial source of hand dysfunction in Friedreich ataxia.

J Clin Neurosci 2019 Jun 22;64:71-76. Epub 2019 Apr 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Wellington Road, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Royal Parade, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1016/j.jocn.2019.04.009DOI Listing
June 2019

Infantile-Onset Myelin Protein Zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia.

Semin Pediatr Neurol 2018 07 1;26:52-55. Epub 2017 Apr 1.

Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.005DOI Listing
July 2018

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

From the Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

Brain Behav 2018 04 21;8(4):e00919. Epub 2018 Feb 21.

Neurology Department The Royal Children's Hospital Melbourne Parkville Vic. Australia.

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http://dx.doi.org/10.1002/brb3.919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893341PMC
April 2018

Nusinersen for SMA: expanded access programme.

J Neurol Neurosurg Psychiatry 2018 09 16;89(9):937-942. Epub 2018 Mar 16.

Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1136/jnnp-2017-317412DOI Listing
September 2018

Progress in the treatment of Friedreich ataxia.

Neurol Neurochir Pol 2018 Mar 19;52(2):129-139. Epub 2018 Feb 19.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pjnns.2018.02.003DOI Listing
March 2018

Psychometric properties of outcome measures evaluating decline in gait in cerebellar ataxia: A systematic review.

Gait Posture 2018 Mar 4;61:149-162. Epub 2018 Jan 4.

Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, 3052, Australia; Monash Health, 246 Clayton Road, Clayton, 3168, Australia; Monash Institute of Cognitive and Clinical Neurosciences, School of Psychological Sciences, Monash University, Wellington Road, Clayton, 3800, Australia; Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.gaitpost.2017.12.031DOI Listing
March 2018

Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?

Clin Rehabil 2018 May 26;32(5):630-643. Epub 2017 Oct 26.

1 Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.

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http://dx.doi.org/10.1177/0269215517736903DOI Listing
May 2018

How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?

J Neurol 2017 Aug 10;264(8):1768-1776. Epub 2017 Jul 10.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Rd, Parkville, VIC, 3052, Australia.

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http://dx.doi.org/10.1007/s00415-017-8566-0DOI Listing
August 2017

Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.

Neurorehabil Neural Repair 2017 Jul 9;31(7):609-622. Epub 2017 Jun 9.

1 Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1177/1545968317712469DOI Listing
July 2017

Progression of Friedreich ataxia: quantitative characterization over 5 years.

Ann Clin Transl Neurol 2016 09 25;3(9):684-94. Epub 2016 Jul 25.

Departments of Pediatrics and Neurology The Children's Hospital of Philadelphia Philadelphia Pennsylvania; Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania.

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http://dx.doi.org/10.1002/acn3.332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018581PMC
September 2016

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.

Neurobiol Dis 2016 Oct 5;94:237-44. Epub 2016 Jul 5.

Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.07.001DOI Listing
October 2016

Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention.

J Paediatr Child Health 2016 Aug 31;52(8):842-6. Epub 2016 May 31.

Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.13251DOI Listing
August 2016

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

J Child Neurol 2016 08 12;31(9):1161-5. Epub 2016 Apr 12.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

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http://dx.doi.org/10.1177/0883073816643408DOI Listing
August 2016

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Neurol Genet 2015 Aug 16;1(2):e16. Epub 2015 Jul 16.

Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., E.M.Y., J.C.H.S., M.B.D., P.J.L.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; Bioinformatics Division (V.L., C.B., R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; Department of Neurology (M.M.R., E.M.Y., R.J.L.) and Department of Paediatrics (A.P.L.M., M.M.R., E.M.Y., M.B.D., D.J.A., R.J.L., P.J.L.), The University of Melbourne, Royal Children's Hospital, Parkville, Australia; Victorian Clinical Genetics Services (D.J.A., G.M.) and Neuroscience Research (M.M.R., R.J.L.), Murdoch Childrens Research Institute, Parkville, Australia; Department of Neurology (E.H.S.), UCSF Benioff Children's Hospital, San Francisco, CA; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (R.T., M.B.), The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911PMC
August 2015

A longitudinal study of the Friedreich Ataxia Impact Scale.

J Neurol Sci 2015 May 21;352(1-2):53-7. Epub 2015 Mar 21.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia; Department of Clinical Genetics, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.03.024DOI Listing
May 2015

Duchenne muscular dystrophy.

J Paediatr Child Health 2015 Aug 9;51(8):759-64. Epub 2015 Mar 9.

Neurology Department, Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.12868DOI Listing
August 2015

Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A.

Neurology 2015 Feb 9;84(6):569-74. Epub 2015 Jan 9.

From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001236DOI Listing
February 2015

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools.

J Neurol Neurosurg Psychiatry 2015 Jun 11;86(6):660-6. Epub 2014 Aug 11.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia Monash Health, Clayton, Victoria, Australia Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia Department of Paediatrics, Monash University, Clayton, Victoria, Australia Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.

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http://jnnp.bmj.com/content/early/2014/08/10/jnnp-2014-30802
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-308022
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http://dx.doi.org/10.1136/jnnp-2014-308022DOI Listing
June 2015

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.

Mov Disord 2014 Jun 3;29(7):940-3. Epub 2014 Jan 3.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia; Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia; School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia.

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http://dx.doi.org/10.1002/mds.25795DOI Listing
June 2014

Clinical and magnetic resonance imaging (MRI) distinctions between tumefactive demyelination and brain tumors in children.

J Child Neurol 2014 May 3;29(5):654-65. Epub 2013 Oct 3.

1Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1177/0883073813500713DOI Listing
May 2014

Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.

J Peripher Nerv Syst 2012 Sep;17(3):285-300

Children's Neuroscience Centre, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00412.xDOI Listing
September 2012

Demyelinating prenatal and infantile developmental neuropathies.

J Peripher Nerv Syst 2012 Mar;17(1):32-52

Children's Neuroscience Centre, Royal Children's Hospital, Flemington Road, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00379.xDOI Listing
March 2012

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Muscle Nerve 2011 Jul;44(1):135-41

Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1002/mus.22076DOI Listing
July 2011

Update on emerging therapies for multiple sclerosis.

Expert Rev Neurother 2010 Aug;10(8):1259-62

The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1586/ern.10.98DOI Listing
August 2010

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

Lancet Neurol 2009 Jun 6;8(6):537-44. Epub 2009 May 6.

Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, and Institute for Neuromuscular Research, Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/S1474-4422(09)70108-5DOI Listing
June 2009

Duchenne muscular dystrophy.

Neurol India 2008 Jul-Sep;56(3):236-47

Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Australia.

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http://dx.doi.org/10.4103/0028-3886.43441DOI Listing
June 2009

Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A.

J Peripher Nerv Syst 2008 Sep;13(3):236-41

Children's Neuroscience Centre, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1529-8027.2008.00182.xDOI Listing
September 2008

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.

Muscle Nerve 2008 Jul;38(1):930-2

Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1002/mus.21013DOI Listing
July 2008