John Hardy

The paper identifies a distal regulatory variant on a shared haplotype that drives neuroinflammatory pathways in GBA1-associated Parkinson's disease, explaining how GBA1 variants increase PD risk.

The paper identifies an oligodendrocyte DNA methylation signature in Alzheimer's disease that is preserved across brain regions and disease stages, and is associated with altered gene expression in OLGs.

The paper measures GPNMB and glycosphingolipid levels in CSF and plasma from PD patients and controls, finding sex-based differences and associations with PD biomarkers.

The paper identifies genetic factors associated with Alzheimer's disease progression using GWAS and longitudinal data, finding distinct genetic drivers from disease risk.

This study compares the effects of PSEN1 and PSEN2 knockout in iPSC-derived brain cells, finding distinct impacts on endo-lysosomal systems and APP cleavage.

This study conducts a GWAS on Pick's disease and identifies two SNPs associated with risk, though not at genome-wide significance, suggesting potential genetic factors beyond MAPT mutations.

This study identifies genetic variants associated with Parkinson's disease in African and African admixed populations, highlighting differences from European and Asian populations.

This paper introduces ASA-PD, an imaging method to detect and map α-synuclein oligomers in Parkinson's disease brain tissue, revealing a specific subpopulation of nanoscale oligomers as an early hallmark of the disease.

The paper identifies a splice variant-dependent localization of PMCA2 to lysosomes and links it to neurodegenerative diseases.

This study introduces a DNA foundation model to assess functional genetic variation across diverse populations, demonstrating its utility in understanding Alzheimer's disease risk and ancestry-specific gene expression.

The paper identifies splicing dysregulation in Parkinson's disease linked to TDP-43 loss of function and shows its association with genetic mutations and cellular models.

The paper identifies gene expression changes in microglia around Aβ plaques in human Alzheimer's disease tissue and finds cross-species concordance with mouse data.

This study shows that PSEN1 mutations disrupt regulated intramembrane proteolysis in astrocytes, leading to enhanced inflammatory responses and contributing to familial Alzheimer's disease progression.

The paper identifies novel APP transcripts that generate Aβ independently of β-secretase, showing their expression and presence in CSF.

The paper identifies genes regulating alpha-synuclein homeostasis and shows their differential expression correlates with increased rare risk variant burden in Parkinson's disease.

The paper investigates the connection between Aβ and tau proteostasis networks, identifying HSP90 as a central hub that links their dysregulation in Alzheimer's disease.

The paper investigates how the 17q21.31 locus influences Parkinson's disease through KANSL1 activity, showing haplotype-specific effects on key biological processes.

This study compares molecular and cellular signatures of Parkinson's disease and Parkinson's disease with dementia using single-nuclear transcriptomics, finding distinct gene expression patterns and biological pathways.

This study uses bulk and single nuclear RNA-sequencing to analyze transcriptomic changes in repeat expansion ataxias, revealing distinct non-neuronal cell type-specific disease signatures across the human brain.

The paper identifies a non-coding risk variant in GBA1 associated with Parkinson's disease in African ancestry populations, showing it disrupts splicing and reduces glucocerebrosidase activity.

This study shows microglia produce ABri peptide in FBD, contributing to amyloid plaques and neurodegeneration, and suggests ITM2B/BRI2 is involved in microglial disease responses.

This paper introduces a new mouse model, NLFTaum/h, that shows ageing and amyloid-β can initiate tau pathology without MAPT mutations, revealing interactions between age, Aβ, and human tau.

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

The paper estimates the frequency of repeat expansion mutations across populations using whole genome sequencing data and finds higher expected prevalence than current reports.

The paper introduces the NeuroBooster Array, a genome-wide genotyping platform designed to study neurological disorders across diverse populations by capturing genetic variation and enabling imputation of disease-related variants.

This study identifies six genetic loci associated with progressive supranuclear palsy, including a novel locus, and links them to oligodendrocytic dysfunction and C4A expression.

The paper uses long-read RNA-seq to study splicing changes in an Alzheimer's mouse model, identifying novel transcript isoforms and alternative splicing events in response to amyloid-beta.

The paper shows that sequencing ambiguity between GBA1 and its pseudogene GBAP1 affects transcriptomic analysis, revealing non-lysosomal functions in the brain and widespread annotation inaccuracies.

This study identifies six novel genetic loci associated with Parkinson's disease mortality and motor progression using genome-wide survival analysis.

The paper identifies novel SNCA transcripts in human dopaminergic neurons and demonstrates their impact on antisense oligonucleotide therapy for Parkinson's disease.