Search filters

List of works by Eppie M. Yiu

234. Early onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

A longitudinal study of the Friedreich Ataxia Impact Scale

scientific article published on 21 March 2015

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

scientific article

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

scientific article published on 11 August 2014

Acute transverse myelitis and acute disseminated encephalomyelitis in childhood: spectrum or separate entities?

scientific article published in March 2009

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in theSMNgene

scientific article published on 01 July 2008

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

scientific article published on 07 April 2015

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

scientific article published on 6 May 2009

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

scientific article published in October 2017

Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1

scientific article published on 01 October 2009

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

scientific article

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

scientific article published on 12 April 2016

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

scientific article published on 16 July 2015

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

scientific article published on 24 December 2015

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

scientific article

Demyelinating prenatal and infantile developmental neuropathies ⬇️

scientific article published on March 1, 2012

Diagnosis and management of Guillain-Barré syndrome in ten steps

scientific article published on 20 September 2019

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

scientific article

Duchenne muscular dystrophy

scientific article published on 01 July 2008

Duchenne muscular dystrophy

scientific article published on 09 March 2015

Early-onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency

scientific article published on 01 July 2011

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

scholarly article published in Brain

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

scientific article published on 05 May 2017

Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid

scientific article published on 01 September 2011

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

scientific article published on 31 May 2016

Gastrocnemius and soleus spasticity and muscle length in Friedreich’s ataxia

scientific article published on 25 March 2016

Genetic axonal neuropathies and neuronopathies of pre‐natal and infantile onset ⬇️

scientific article published on September 1, 2012

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

scientific article published on 05 April 2017

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

scientific article published on 03 January 2014

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

scientific article published on 10 July 2017

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

scientific article published on 12 November 2019

Incidence and prevalence of NMOSD in Australia and New Zealand.

scientific article published on 26 May 2017

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

scientific article published on 01 April 2017

MRI findings in X-linked Charcot–Marie–Tooth disease associated with a novel connexin 32 mutation ⬇️

scientific article published on May 1, 2011

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

scientific article published on 03 January 2020

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

scientific article

Nusinersen for SMA: expanded access programme

scientific article published on 16 March 2018

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

scientific article

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

scientific article published on 9 January 2015

Probing the multifactorial source of hand dysfunction in Friedreich ataxia

scientific article published on 22 April 2019

Progress in the treatment of Friedreich ataxia

scientific article published on 19 February 2018

Progression of Friedreich ataxia: quantitative characterization over 5 years

scientific article published on 25 July 2016

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

scientific article published on 4 January 2018

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

scientific article

The clinical profile of NMOSD in Australia and New Zealand

scientific article published on 31 January 2020

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

scientific article published on 01 May 2020

Update on emerging therapies for multiple sclerosis

scientific article published on August 2010

Paulina is supported by:

About Paulina

Help