Alejandro Martínez-Carrasco

The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.

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

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.

This paper identifies three novel genetic variants associated with levodopa-induced dyskinesia in Parkinson's disease and confirms associations with ANKK1 and BDNF, while also finding gender, age at onset, and anxiety as risk factors.

This study identifies genetic variants associated with motor progression in Parkinson's disease using GWAS and functional analysis.

The paper describes a virtual hackathon event that brought together early career scientists to develop tools for Parkinson's disease research using open science principles.

This study identifies APOE-ε4 and LRP1B as genetic risk factors for Parkinson's disease dementia using genome-wide survival analysis in 3,964 PD cases.