Enza Maria Valente

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations

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.

Genome-wide association study of copy number variations in Parkinson's disease

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

Massive-scale single-nucleus multi-omics identifies novel rare noncoding drivers of Parkinson's disease

The paper identifies rare noncoding variants associated with Parkinson's disease using multi-omic data from over 3.3 million nuclei.

TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations.

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

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance

This paper analyzes genetic variation in Parkinson's disease across multiple ancestries, revealing ancestry-specific patterns and highlighting the importance of diverse populations in genetic research.

Regulation of FGF/MAPK signaling at the primary cilium base controls the proliferation-neurogenesis balance in human cerebellar organoids

This study shows that ciliary dysfunction in human cerebellar organoids leads to overactivation of FGF/MAPK signaling, impairing neurogenesis and increasing progenitor proliferation.

Understanding monogenic Parkinson's disease at a global scale

This paper combines two global monogenic Parkinson's disease initiatives to create a comprehensive cohort and infrastructure for studying multi-ancestry genetic factors and disease expression.

Global Parkinson's Genetics Program (GP2) Monogenic Network Protocol: Elucidating causative gene variants in hereditary Parkinson's disease

The paper establishes a protocol for whole-genome sequencing to identify genetic causes of Parkinson's disease, focusing on monogenic variants and their clinical implications.

Neuropsychological assessment and virtual reality training of social prediction in patients with cerebellar malformation

This study investigates cerebellar impairments in social prediction using virtual reality training and finds improved social cognition through context-based prediction training.