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Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies
TLDR
The genetic results suggest that for a subset of patients, immune dysfunction may contribute to FTD risk, and have potential implications for clinical trials targeting immune dysfunction in patients with FTD.
Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer’s disease
TLDR
The collective findings support a disease model in which cardiovascular biology is integral to the development of clinical AD in a subset of individuals and pinpointa subset of cardiovascular-associated genes that strongly increase the risk for AD.
Polygenic hazard score: an enrichment marker for Alzheimer’s associated amyloid and tau deposition
TLDR
The results show that even after accounting for APOE ε4 effects, PHS may be useful in MCI and preclinical AD therapeutic trials to enrich for biomarker-positive individuals at highest risk for short-term clinical progression.
CXCR4 involvement in neurodegenerative diseases
TLDR
Multi-modal findings suggest that abnormal signaling across a ‘network’ of microglial genes may contribute to neurodegeneration and may have potential implications for clinical trials targeting immune dysfunction in patients with Neurodegenerative diseases.
Structural Connections of Functionally Defined Human Insular Subdivisions
TLDR
A large HARDI diffusion magnetic resonance imaging (MRI) dataset is used to demonstrate novel visualizations of insula white matter tracts supporting a tripartite structure‐function insula organization.
Moving Toward Patient-Tailored Treatment in ALS and FTD: The Potential of Genomic Assessment as a Tool for Biological Discovery and Trial Recruitment
TLDR
The need to shift the focus from studying ALS and FTD in isolation to identifying the biological mechanisms that drive these diseases to improve treatment discovery and therapeutic development success is discussed.
Polygenic hazard score, amyloid deposition and Alzheimer’s neurodegeneration
TLDR
It is shown that in living subjects, polygenic hazard scores were associated with amyloid deposition and neurodegeneration in susceptible brain regions, and beyond APOE, they may also be useful for the identification of individuals at the highest risk for developing multi-aetiological dementia.
Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex
TLDR
The findings suggest that the cerebellum may play a central role in TSC pathogenesis and may contribute to the cognitive impairment, including the high incidence of autism spectrum disorder, observed in the TSC population.
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