Jean‐Christophe Corvol

This study identifies increased intra-individual saccadic variability and altered functional connectivity in early Parkinson's disease, showing their potential as biomarkers for early diagnosis.

This study shows that LRRK2-G2019S mutation in microglia increases nuclear ASC speck formation, indicating a primed inflammasome state linked to chronic neuroinflammation in Parkinson's disease.

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 uses NM-sensitive MRI to study neuromelanin accumulation and neurodegeneration in Parkinson's disease models, finding a biphasic signal change linked to a pathogenic threshold.

This study investigates network alterations in olfactory dysfunction in Parkinson's disease and iRBD patients using multimodal MRI, finding correlations between olfactory function and specific brain regions and networks.

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

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.

This study investigates sex-specific genetic factors in Parkinson's disease using GWAS but finds no significant genetic differences between male and female cases.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

The paper identifies genetic modifiers of risk and age at onset in GBA-associated Parkinson disease and Lewy body dementia using large case-control datasets and genome-wide association studies.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.

This study conducts a GWAS to identify genetic determinants of Parkinson's disease age of onset, finding associations with SNCA, TMEM175, and GBA, and highlighting alpha-synuclein's role in disease onset.

This study identifies two genome-wide significant variants associated with Parkinson's disease progression and replicates known risk variants' effects on motor and cognitive decline.