User profiles for C. Dobson-Stone

Carol Dobson-Stone

University of Sydney
Verified email at sydney.edu.au
Cited by 9308

Neuroinflammation in frontotemporal dementia

F Bright, EL Werry, C Dobson-Stone, O Piguet… - Nature Reviews …, 2019 - nature.com
Frontotemporal dementia (FTD) refers to a group of progressive neurodegenerative disorders
with different pathological signatures, genetic variability and complex disease mechanisms…

Neurologic phenotypes associated with acanthocytosis

RH Walker, HH Jung, C Dobson-Stone, L Rampoldi… - Neurology, 2007 - AAN Enterprises
The term “neuroacanthocytosis” is normally used to refer to autosomal recessive chorea–acanthocytosis
and X-linked McLeod syndrome, but there are other movement disorders in …

Interactions between BDNF Val66Met polymorphism and early life stress predict brain and arousal pathways to syndromal depression and anxiety

JM Gatt, CB Nemeroff, C Dobson-Stone, RH Paul… - Molecular …, 2009 - nature.com
Individual risk markers for depression and anxiety disorders have been identified but the
explicit pathways that link genes and environment to these markers remain unknown. Here we …

Frontotemporal dementia and its subtypes: a genome-wide association study

…, A Ramasamy, JBJ Kwok, C Dobson-Stone… - The Lancet …, 2014 - thelancet.com
Background Frontotemporal dementia (FTD) is a complex disorder characterised by a broad
range of clinical manifestations, differential pathological signatures, and genetic variability. …

Hailey–Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump

R Sudbrak, J Brown, C Dobson-Stone… - Human molecular …, 2000 - academic.oup.com
… After an initial denaturation step at 94C for 15 min, 35 cycles of amplification consisting of
30 s at 94C, 30 s at 58C and 30 s at 72C were performed. RT–PCR products were run on 3% …

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

L Rampoldi, C Dobson-Stone, JP Rubio, A Danek… - Nature …, 2001 - nature.com
C). Given the strong conservation of the terminal domains, the overall similarity and their …
Nevertheless, the strong conservation of the N and C termini indicates that these domains …

Methylation of the oxytocin receptor gene and oxytocin blood levels in the development of psychopathy

…, C Moul, A Cauchi, C Dobson-Stone… - Development and …, 2014 - cambridge.org
Child conduct problems (CPs) are a robust predictor of adult mental health; the concurrence
of callous–unemotional (CU) traits confers specific risk for psychopathy. Psychopathy may …

CYLD in health and disease

…, I Raote, J Inns, C Dobson-Stone… - Disease Models & …, 2023 - journals.biologists.com
… In 2020, Dobson-Stone et al. identified a heterozygous missense pathogenic variant in
CYLD, M719V, as the cause of autosomal-dominant FTD and amyotrophic lateral sclerosis (ALS) …

Severity of disease and risk of malignant change in hereditary multiple exostoses: a genotype-phenotype study

…, L Lonie, M Fraser, C Dobson-Stone… - The Journal of Bone …, 2004 - boneandjoint.org.uk
We performed a prospective genotype-phenotype study using molecular screening and clinical
assessment to compare the severity of disease and the risk of sarcoma in 172 individuals …

[HTML][HTML] CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

…, V Sundaramoorthy, C Dobson-Stone… - Nature …, 2016 - nature.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal
neurodegenerative disorders in which the molecular and pathogenic basis remains poorly …