Area of research
Physiology · Neurology
Research interest
Research interests include Alzheimer's disease research and treatments, Dementia and Cognitive Impairment Research, Parkinson's Disease Mechanisms and Treatments, and Amyotrophic Lateral Sclerosis Research.
Tau filaments with the Alzheimer fold in human MAPT mutants V337M and R406W
Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer’s disease
Down syndrome and a presenilin 2 variant: dual genetic risk of Alzheimer’s disease
Associations of Sex, Race, and Apolipoprotein E Alleles With Multiple Domains of Cognition Among Older Adults
Aβ and tau prions feature in the neuropathogenesis of Down syndrome
Manifestations of Alzheimer’s disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90
Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study
Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice
Aβ and tau prion-like activities decline with longevity in the Alzheimer’s disease human brain
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease
Structural heterogeneity and intersubject variability of Aβ in familial and sporadic Alzheimer’s disease
Genetic data and cognitively defined late-onset Alzheimer’s disease subgroups
Sertraline, Paroxetine, and Chlorpromazine Are Rapidly Acting Anthelmintic Drugs Capable of Clinical Repurposing
Transethnic genome‐wide scan identifies novel Alzheimer's disease loci
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects
Incidence of cognitively defined late‐onset Alzheimer's dementia subgroups from a prospective cohort study
TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy
Assessment of the genetic variance of late-onset Alzheimer's disease
<i>ABCA7</i> frameshift deletion associated with Alzheimer disease in African Americans
<i>ADCY5</i> -related dyskinesia
Genome‐wide linkage analyses of non‐Hispanic white families identify novel loci for familial late‐onset Alzheimer's disease
Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease
Rarity of the Alzheimer Disease–Protective<i>APP</i>A673T Variant in the United States
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Genotype patterns at<i>PICALM, CR1, BIN1, CLU</i>, and<i>APOE</i>genes are associated with episodic memory
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult