Ignacio Álvarez

The paper analyzes copy number variants in a Spanish dementia cohort and identifies potential novel genes associated with ADRD but finds no genome-wide significant associations.

This study identifies genetic variants associated with REM sleep behavior disorder in Parkinson's disease and explores genetic correlations with neuropsychiatric traits.

This study identifies four novel genetic loci associated with soluble TREM2 levels in CSF through GWAS and provides functional validation of their roles in Alzheimer's disease.

This study uses Mendelian randomization to show that genetic risk for mosaic loss of chromosome Y (mLOY) increases AD risk in males, but not females, suggesting mLOY directly contributes to AD pathogenesis.

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 uses GWAS, PRS, and MR to show a genetic link between Parkinson's disease and CSF Aβ42 and APOE locus.

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.

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

This study conducts a GWAS of Parkinson disease in Spain, identifies a novel population-specific signal at PARK2 associated with age-at-onset, and highlights genetic substructure for future fine-mapping.

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.