Eppie Yiu

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

G Perez-Siles, A Cutrupi, M Ellis, R Screnci, D Mao, M Uesugi, Eppie M Yiu, Monique M Ryan, BO Choi, G Nicholson, ML Kennerson

Journal article  |  2020  |  Scientific Reports

Charcot-Marie-Tooth (CMT) is a group of inherited diseases clinically and genetically heterogenous, characterised by length depend..

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

Kate Carroll, Eppie M Yiu, Monique M Ryan, Rachel A Kennedy, Katy de Valle

Journal article  |  2020  |  Disability and Rehabilitation

The clinical profile of NMOSD in Australia and New Zealand

Wajih Bukhari, Laura Clarke, Cullen O'Gorman, Elham Khalilidehkordi, Simon Arnett, Kerri M Prain, Mark Woodhall, Roger Silvestrini, Christine S Bundell, Sudarshini Ramanathan, David Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J Brew, Wallace Brownlee, Helmut Butzkueven, William M Carroll, Celia Chen, et al.

Journal article  |  2020  |  Journal of Neurology

Neuromyelitis optica spectrum disorders (NMOSD) are an inflammation of the central nervous system associated with autoantibodies t..

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

Carolyn Bursle, Eppie M Yiu, Alison Yeung, Jeremy L Freeman, Chloe Stutterd, Richard J Leventer, Adeline Vanderver, Joy Yaplito-Lee

Journal article  |  2020  |  JIMD Reports

We report two unrelated patients with infantile onset leukoencephalopathy with vanishing white matter (VWM) and hyperinsulinaemic ..

Diagnosis and management of Guillain-Barre syndrome in ten steps

Sonja E Leonhard, Melissa R Mandarakas, Francisco AA Gondim, Kathleen Bateman, Maria LB Ferreira, David R Cornblath, Pieter A van Doorn, Mario E Dourado, Richard AC Hughes, Badrul Islam, Susumu Kusunoki, Carlos A Pardo, Ricardo Reisin, James J Sejvar, Nortina Shahrizaila, Cristiane Soares, Thirugnanam Umapathi, Yuzhong Wang, Eppie M Yiu, Hugh J Willison, et al.

Journal article  |  2019  |  Nature Reviews Neurology

Guillain-Barré syndrome (GBS) is a rare, but potentially fatal, immune-mediated disease of the peripheral nerves and nerve roots t..

Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination

Fiona Tea, Joseph A Lopez, Sudarshini Ramanathan, Vera Merheb, Fiona XZ Lee, Alicia Zou, Deepti Pilli, Ellis Patrick, Anneke van der Walt, Mastura Monif, Esther M Tantsis, Eppie M Yiu, Steve Vucic, Andrew PD Henderson, Anthony Fok, Clare L Fraser, Jeanette Lechner-Scott, Stephen W Reddel, Simon Broadley, Michael H Barnett, et al.

Journal article  |  2019  |  Acta Neuropathologica Communications

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

Sarah R Curnow, Sally Chow, Eppie M Yiu, Andrew J Kornberg

Journal article  |  2019  |  Pediatric Neurology

Probing the multifactorial source of hand dysfunction in Friedreich ataxia

Louise A Corben, Eppie M Yiu, Geneieve Tai, Sarah C Milne, Brigitte Lynch, Martin B Delatycki

Journal article  |  2019  |  Journal of Clinical Neuroscience

Development of best practice guidelines for paediatric Charcot-Marie-Tooth disease

Eppie Yiu, Joshua Burns, Manoj Menezes, Monique Ryan

Conference Proceedings  |  2018  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Melissa R Mandarakas, Manoj P Menezes, Kristy J Rose, Rosemary Shy, Kate Eichinger, Maria Foscan, Timothy Estilow, Rachel Kennedy, Karen Herbert, Paula Bray, Kathryn Refshauge, Monique M Ryan, Eppie M Yiu, Michelle Farrar, Hugo Sampaio, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, SabrinaW Yum, David N Herrmann, et al.

Journal article  |  2018  |  Brain

Development and validation of the CMT infant scale

Melissa Mandarakas, Manoj Menezes, Kristy Rose, Rosemary Shy, Kate Eichinger, Maria Foscan, Timothy Estilow, Rachel Kennedy, Karen Herbert, Paula Bray, Kathryn Refshauge, Monique Ryan, Eppie Yiu, Michelle Farrar, Hugo Sampaio, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Sabrina Yum, David Herrmann, et al.

Conference Proceedings  |  2018  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Nusinersen for SMA: expanded access programme

Michelle A Farrar, Hooi Ling Teoh, Kate A Carey, Anita Cairns, Robin Forbes, Karen Herbert, Sandra Holland, Kristi J Jones, Manoj P Menezes, Margot Morrison, Kate Munro, Daniella Villano, Richard Webster, Ian R Woodcock, Eppie M Yiu, Hugo Sampaio, Monique M Ryan

Journal article  |  2018  |  Journal of Neurology, Neurosurgery & Psychiatry

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

Eppie M Yiu, Jithangi Wanigasinghe, Mark T Mackay, Michael Gonzales, GarthA Nicholson, Monique M Ryan

Journal article  |  2018  |  Seminars in Pediatric Neurology

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

Ian R Woodcock, Manoj P Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M White, Rachel Stapleton, Dean G Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M Ryan, Colin Robertson, Eppie M Yiu

Journal article  |  2018  |  Seminars in Pediatric Neurology

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

Sarah C Milne, Louise A Corben, Melissa Roberts, Anna Murphy, Geneieve Tai, Nellie Georgiou-Karistianis, Eppie M Yiu, Martin B Delatycki

Journal article  |  2018  |  Clinical Rehabilitation

Longitudinal change of gait and balance in individuals with Friedreich ataxia

Sarah Milne, Seok Kim, Anna Murphy, Theresa Zesiewicz, Mary Danoudis, Jessica Shaw, Ritchie Malapira, Eppie Yiu, Nellie Georgiou-Karistianis, Martin Delatycki, Louise Corben

Conference Proceedings  |  2018  |  NEUROLOGY

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity

Sanne MR Hobbelink, Cain R Brockley, Rachel A Kennedy, Kate Carroll, Katy de Valle, Padma Rao, Mark R Davis, Nigel G Laing, Nicol C Voermans, Monique M Ryan, Eppie M Yiu

Journal article  |  2018  |  Brain and Behavior

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

Sarah C Milne, Anna Murphy, Nellie Georgiou-Karistianis, Eppie M Yiu, Martin B Delatycki, Louise A Corben

Journal article  |  2018  |  Gait & Posture

Progress in the treatment of Friedreich ataxia

Geneieve Tai, Louise A Corben, Eppie M Yiu, Sarah C Milne, Martin B Delatycki

Journal article  |  2018  |  Neurologia i Neurochirurgia Polska

Incidence and prevalence of NMOSD in Australia and New Zealand

Wajih Bukhari, Kerri M Prain, Patrick Waters, Mark Woodhall, Cullen M O'Gorman, Laura Clarke, Roger A Silvestrini, Christine S Bundell, David Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J Brew, Matthew Brown, Wallace J Brownlee, Helmut Butzkueven, William M Carroll, Celia Chen, Alan Coulthard, et al.

Journal article  |  2017  |  Journal of Neurology, Neurosurgery & Psychiatry

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

Geneieve Tai, Eppie M Yiu, Martin B Delatycki, Louise A Corben

Journal article  |  2017  |  Journal of Neurology

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, Kurian Koshy, Eppie Yiu, Goknur Haliloglu, Diclehan Orhan, Phillipa J Lamont, Mark R Davis, Nigel G Laing, Gianina Ravenscroft

Journal article  |  2017  |  Neuromuscular Disorders

A longitudinal study of the SF-36 version 2 in Friedreich ataxia

G Tai, LA Corben, EM Yiu, MB Delatycki

Journal article  |  2017  |  Acta Neurologica Scandinavica

Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review

Sarah C Milne, Louise A Corben, Nellie Georgiou-Karistianis, Martin B Delatycki, Eppie M Yiu

Journal article  |  2017  |  Neurorehabilitation and Neural Repair

FRIEDREICH ATAXIA

Louise A Corben, Eppie M Yiu, Marguerite V Evans-Galea, Martin B Delatycki

Book Chapter  |  2017

Compound Heterozygous FXN Mutations and Clinical Outcome in Friedreich Ataxia

Charles A Galea, Aamira Huq, Paul J Lockhart, Geneieve Tai, Louise A Corben, Eppie M Yiu, Lyle C Gurrin, David R Lynch, Sarah Gelbard, Alexandra Durr, Francoise Pousset, Michael Parkinson, Robyn Labrum, Paola Giunti, Susan L Perlman, Martin B Delatycki, Marguerite V Evans-Galea

Journal article  |  2016  |  Annals of Neurology

Duchenne muscular dystrophy

Eppie M Yiu, Andrew J Kornberg

Journal article  |  2015  |  Journal of Paediatrics and Child Health

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

Ashley PL Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard, Monique M Ryan, Eppie M Yiu, Joe CH Sim, Martin B Delarycki, David J Amor, George McGillivray, Elliott H Sherr, Melanie Bahlo, Richard J Leventer, Paul J Lockhart

Journal article  |  2015  |  NEUROLOGY-GENETICS

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

Geneieve Tai, Louise A Corben, Lyle Gurrin, Eppie M Yiu, Andrew Churchyard, Michael Fahey, Brian Hoare, Sharon Downie, Martin B Delatycki

Journal article  |  2015  |  Journal of Neurology, Neurosurgery & Psychiatry

A longitudinal study of the Friedreich Ataxia Impact Scale

Geneieve Tai, Eppie M Yiu, Louise A Corben, Martin B Delatycki

Journal article  |  2015  |  Journal of the Neurological Sciences

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

Eppie M Yiu, Geneieve Tai, Roger E Peverill, Katherine J Lee, Kevin D Croft, Trevor A Mori, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Monika Praschberger, Adam P Vogel, Gary Rance, Sarah EM Stephenson, Joseph P Sarsero, Creina Stockley, Chung-Yung J Lee, Andrew Churchyard, Marguerite V Evans-Galea, Monique M Ryan, Paul J Lockhart, Louise A Corben, et al.

Journal article  |  2015  |  JOURNAL OF NEUROLOGY

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

Eppie M Yiu, Cain R Brockley, Katherine J Lee, Kate Carroll, Katy de Valle, Rachel Kennedy, Padma Rao, Martin B Delatycki, Monique M Ryan

Journal article  |  2015  |  NEUROLOGY

Clinical and Magnetic Resonance Imaging (MRI) Distinctions Between Tumefactive Demyelination and Brain Tumors in Children

Eppie M Yiu, Suzanne Laughlin, Leonard H Verhey, Brenda L Banwell

Journal article  |  2014  |  Journal of Child Neurology

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

Joshua Burns, Robert A Ouvrier, Eppie M Yiu, Pathma D Joseph, Andrew J Kornberg, Michael C Fahey, Monique M Ryan

Journal article  |  2009  |  The Lancet Neurology

Acute Transverse Myelitis and Acute Disseminated Encephalomyelitis in Childhood: Spectrum or Separate Entities?

Eppie M Yiu, Andrew J Kornberg, Monique M Ryan, Lee T Coleman, Mark T Mackay

Journal article  |  2009  |  Journal of Child Neurology