Eppie Yiu

pediatric Charcot-Marie-tooth disease clinical practice guideline

Eppie Yiu, Joshua Burns, Paula Bray, Manoj Menezes, Monique Ryan

Conference Proceedings  |  2020  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

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..

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

Ariel Dahan, Fabienne Brilot, Richard Leventer, Andrew J Kornberg, Russell C Dale, Eppie M Yiu

Journal article  |  2020  |  Journal of Child Neurology

Neuromyelitis optica spectrum disorder is uncommon in children, and often seronegative for aquaporin-4 immunoglobulin G (AQP4-IgG)..

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