User profiles for C. Dobson-Stone
Carol Dobson-StoneUniversity of Sydney Verified email at sydney.edu.au Cited by 9308 |
Neuroinflammation in frontotemporal dementia
Frontotemporal dementia (FTD) refers to a group of progressive neurodegenerative disorders
with different pathological signatures, genetic variability and complex disease mechanisms…
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 …
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
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 …
explicit pathways that link genes and environment to these markers remain unknown. Here we …
Frontotemporal dementia and its subtypes: a genome-wide association study
Background Frontotemporal dementia (FTD) is a complex disorder characterised by a broad
range of clinical manifestations, differential pathological signatures, and genetic variability. …
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% …
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 …
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 …
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) …
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 …
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 …
neurodegenerative disorders in which the molecular and pathogenic basis remains poorly …