Eppie M. Yiu

Compound heterozygous <i>FXN</i> mutations and clinical outcome in friedreich ataxia

Charles A. Galea, Aamira Huq, Paul J. Lockhart et al. · Annals of Neurology · 2015 · 152 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Joshua Burns, Robert Ouvrier, Eppie M. Yiu et al. · The Lancet Neurology · 2009 · 143 citations

Dentistry, Oral Health Sciences, Child Oral Health +6

Progression of Friedreich ataxia: quantitative characterization over 5 years

Maya Patel, Charles J. Isaacs, Lauren Seyer et al. · Annals of Clinical and Translational Neurology · 2016 · 143 citations · Full text

Medicine, Neurology, Neuroscience +16

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

Alison D. Archibald, Melanie Smith, Trent Burgess et al. · Genetics in Medicine · 2017 · 124 citations · Full text

Life Sciences, Genetics, Obstetrics +17

Incidence and prevalence of NMOSD in Australia and New Zealand

Wajih Bukhari, Kerri Prain, Patrick Waters et al. · Journal of Neurology Neurosurgery & Psychiatry · 2017 · 121 citations · Full text

Medicine, Neurology, Disease Surveillance +13