[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 …
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
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, …
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 …
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 …
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, …
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
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, …
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 (…
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 …
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
Objective To investigate structural connectivity and the relationship between axonal microstructure
and clinical, cognitive, and motor functions in premanifest (pre-HD) and symptomatic (…
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
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 …
using quantitative susceptibility mapping (QSM), and to ascertain its relevance in terms of …