Marlene Jiménez-Del-Río

This study identifies genetic associations between lysosomal genes and Parkinson's disease risk across diverse populations using GWAS and whole genome sequencing data.

The paper outlines the protocol for integrating genetic and clinical data from a global cohort of over 150,000 participants to study the genetic causes of sporadic Parkinson's disease.

The paper conducts an X-chromosome association study in Latin American cohorts, identifying new loci linked to Parkinson Disease and replicating previous findings.

This study shows that the APOE3Ch variant reduces tau phosphorylation and regulates Wnt/Cadherin signaling in cerebral organoids from Alzheimer's cases, suggesting a protective mechanism against tauopathy.

The paper constructs and validates a polygenic risk score for Parkinson's disease in a Latino cohort, finding ancestry-related biases and haplotype associations at the SNCA locus.

This study conducts the first GWAS of Parkinson's disease in Latinos, identifies SNCA as significant, and finds genetic overlap with Europeans.

The paper analyzes copy number variants in Latin American Parkinson's disease patients and finds enrichment of variants overlapping known Parkinson's genes, particularly PARK2, associated with early-onset disease.

The paper models familial Alzheimer's disease using MSC-derived cholinergic-like neurons with PSEN1 E280A mutation, revealing key pathological features and potential therapeutic targets.