Joseph J. Jankovic

This study identifies six genome-wide significant risk loci for tic disorders and links genetic risk to specific brain cell types and circuits.

The paper assesses the frequency of dystonia-linked pathogenic variants in Parkinson's disease patients and finds they are present in 0.57% of cases, with GCH1 being the most common gene affected.

This study performs genome sequencing in Parkinson's disease patients and finds genetic variants in 3.4% for LRRK2 and 10.1% for GBA, with 82% of patients willing to share variants with relatives.

This study identifies genetic associations with Parkinson disease motor subtypes using GWAS, finding novel variants and suggesting overlap with essential tremor genetics.

This study identifies gene sets associated with Tourette Syndrome using genome-wide data, highlighting synaptic and immune-related pathways.

The paper combines exome sequencing and array-based comparative genomic hybridization to identify genetic risk factors in familial Parkinson’s disease, finding novel SNVs and CNVs.

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 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.