Ambra Stefani

This study maps brainstem-cortical connectivity in aging and prodromal synucleinopathy, finding distinct pathway vulnerabilities in each condition.

The paper investigates genetic and causal links between post-traumatic stress disorder and rapid-eye-movement sleep behavior disorder using polygenic risk scores, genetic correlation, and Mendelian randomization analyses.

The paper investigates genetic interactions between SNCA and APOE in synucleinopathies using GWAS data and finds no significant epistatic interactions after multiple testing correction.

This study identifies volatile compounds in sebum that differentiate Parkinson's Disease and REM sleep behaviour disorder, showing changes over disease progression.

This study examines the association of NPC1 variants with Parkinson's disease, REM-sleep behavior disorder, and dementia with Lewy bodies in European cohorts and finds no significant associations.

This study identifies five RBD risk loci through genome-wide association and finds differential expression of SNCA-AS1 and SCARB2 in brain regions.

This study investigates the association between GBA variants and risk for isolated REM sleep behavior disorder (iRBD) and conversion to neurodegeneration, finding higher prevalence and increased conversion rates in carriers.

This study identifies SNCA risk variants specific to RBD and overt synucleinopathies, finding distinct associations and opposite effects at the 3' end of SNCA.

This study identifies genetic risk loci for narcolepsy, showing enrichment in immune cells and suggesting autoimmune modulation via T cell receptor chains and influenza-A infection.