Area of research
Neurology · Cellular and Molecular Neuroscience
Research interest
Research interests include Genetic Neurodegenerative Diseases, Alzheimer's disease research and treatments, Neurological disorders and treatments, and Parkinson's Disease Mechanisms and Treatments.
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing
GRAMD1B is a regulator of lipid homeostasis, autophagic flux and phosphorylated tau
Multi-omic analysis of Huntington’s disease reveals a compensatory astrocyte state
Huntington disease oligodendrocyte maturation deficits revealed by single-nucleus RNAseq are rescued by thiamine-biotin supplementation
Cerebral Microbleeds, Cerebral Amyloid Angiopathy, and Their Relationships to Quantitative Markers of Neurodegeneration
Single cell RNA sequencing of human microglia uncovers a subset associated with Alzheimer’s disease
Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD
C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy
Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease
A soluble truncated tau species related to cognitive dysfunction and caspase-2 is elevated in the brain of Huntington’s disease patients
Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers
The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy
PART, a distinct tauopathy, different from classical sporadic Alzheimer disease
miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement
Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Confirmed Lewy Body Disease
Primary age-related tauopathy (PART): a common pathology associated with human aging
MHC-I expression renders catecholaminergic neurons susceptible to T-cell-mediated degeneration
Increased Steady-State Mutant Huntingtin mRNA in Huntington's Disease Brain
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases