[PDF][PDF] Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

…, CH Lawrence, PA James, A Churchyard… - The American Journal of …, 2014 - cell.com
Advances in understanding the etiology of Parkinson disease have been driven by the
identification of causative mutations in families. Genetic analysis of an Australian family with three …

Aggression in Huntington's disease: a systematic review of rates of aggression and treatment methods

…, K Sewell, A Brown, A Churchyard - Journal of Huntington's …, 2014 - content.iospress.com
Aggression is commonly reported in individuals with Huntington's disease (HD). While
correlating factors for aggression are often speculated about, features that are associated with, …

Inter‐rater reliability of the international cooperative Ataxia Rating Scale (ICARS)

…, R Hester, A Hughes, A Churchyard - … : official journal of the …, 2004 - Wiley Online Library
We assessed the inter‐rater reliability of the 100‐point International Cooperative Ataxia Rating
Scale (ICARS). Three neurologists independently rated videotaped ICARS examinations …

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia

…, M Halmagyi, LA Corben, V Collins, AJ Churchyard… - Brain, 2008 - academic.oup.com
Friedreich ataxia (FRDA), the commonest of the inherited ataxias, is a multisystem
neurodegenerative condition that affects ocular motor function. We assessed eye movement …

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

…, JP Sarsero, C Stockley, CYJ Lee, A Churchyard… - Journal of …, 2015 - Springer
Friedreich ataxia (FRDA) is due to a triplet repeat expansion in FXN, resulting in deficiency
of the mitochondrial protein frataxin. Resveratrol is a naturally occurring polyphenol, …

Longitudinal change in white matter microstructure in Huntington's disease: The IMAGE-HD study

GR Poudel, JC Stout, A Churchyard, P Chua… - Neurobiology of …, 2015 - Elsevier
Objective To quantify 18-month changes in white matter microstructure in premanifest (pre-HD)
and symptomatic Huntington's disease (symp-HD). To investigate baseline clinical, …

A retrospective study of the impact of lifestyle on age at onset of Huntington disease

…, V Hogg, VR Collins, A Churchyard… - Movement …, 2010 - Wiley Online Library
In transgenic mouse models of Huntington disease (HD) environmental enrichment significantly
delays disease onset. A questionnaire‐based survey of 154 adults with diagnosed HD (…

Speech acoustic markers of early stage and prodromal Huntington's disease: a marker of disease onset?

AP Vogel, C Shirbin, AJ Churchyard, JC Stout - Neuropsychologia, 2012 - Elsevier
Speech disturbances (eg, altered prosody) have been described in symptomatic Huntington's
Disease (HD) individuals, however, the extent to which speech changes in gene positive …

White matter connectivity reflects clinical and cognitive status in Huntington's disease

GR Poudel, JC Stout, L Salmon, A Churchyard… - Neurobiology of …, 2014 - Elsevier
Objective To investigate structural connectivity and the relationship between axonal microstructure
and clinical, cognitive, and motor functions in premanifest (pre-HD) and symptomatic (…

Iron accumulation in the basal ganglia in Huntington's disease: cross-sectional data from the IMAGE-HD study

ACL Ng, G Poudel, JC Stout, A Churchyard… - Journal of Neurology …, 2016 - jnnp.bmj.com
Objectives To measure iron accumulation in the basal ganglia in Huntington's disease (HD)
using quantitative susceptibility mapping (QSM), and to ascertain its relevance in terms of …