Adriano Chiò

The paper identifies a protective variant CREB3R119G that reduces ALS risk and progression by modulating CREB3 activity in vulnerable neurons.

The paper introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

This study investigates the role of Neanderthal introgression and natural selection in the heritability of neurodegenerative diseases and finds no significant contribution from either.

This study identifies 690 candidate ALS genes using a hierarchical Bayesian model, highlighting genetic convergence on the distal axon and functional significance in motor neurons.

This study shows that defective cyclophilin A (PPIA) leads to TDP-43 proteinopathy, contributing to ALS and FTD by disrupting TDP-43 function and causing neurodegeneration.

This paper identifies genetic pathways and cell types involved in ALS using polygenic risk scores and Mendelian randomization, finding convergence on specific biological processes and cell types.

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.

This study uses a crowdsourcing approach to stratify ALS patients, identifying four distinct clusters with unique predictors and improving outcome prediction.