Kin Ying Mok

The paper identifies the GCH1 p.Ser80Asn variant as a rare, East Asian-enriched risk factor for Parkinson's disease with increased odds ratio and specific clinical features.

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 performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

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

This paper reviews the lack of diversity in Parkinson's disease genetics research, highlighting underrepresentation of non-European populations and the need for more inclusive studies.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

The paper shows that trisomy 21 cerebral organoids exhibit AD-like pathology, which can be suppressed by BACE2 trisomy and inhibited by BACE1 inhibitors, suggesting BACE2 as an AD-suppressor gene.

This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

The paper identifies common LRRK2 locus variation associated with survival in progressive supranuclear palsy, linking it to gene expression regulation and suggesting therapeutic implications for tauopathies.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.

This study identifies a genetic variant at the TRIM11 locus associated with Progressive Supranuclear Palsy phenotype through GWAS and validates it in independent cohorts.

This study shows that neurofilament light (NF-L) levels in blood increase with age and predict dementia in adults with Down syndrome, suggesting its potential as a non-invasive biomarker for neurodegeneration.

This study uses an event-based model to analyze cognitive decline in adults with Down syndrome, showing similar patterns to Alzheimer's disease and identifying useful measures for tracking decline stages.