Ruth Chia

The paper shows that inflammatory signaling affects LRRK2 regulation differently in human and mouse models, highlighting species-specific regulatory mechanisms.

This study identifies nine risk loci and two additional risk genes for restless legs syndrome through genome-wide association and transcriptome-wide analysis.

This study identifies 3,154 high-confidence structural variants in Parkinson's disease using short-read sequencing and validates some with long-read data, highlighting limitations of short-read methods.

The paper identifies ELAVL3 as a downregulated RNA binding protein in ALS, showing nuclear depletion and mislocalization in motor neurons, with findings suggesting loss of function rather than cytoplasmic toxicity.

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

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.

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

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

The paper identifies common LRRK2 locus variation associated with survival in progressive supranuclear palsy, linking it to gene expression regulation and suggesting therapeutic implications for tauopathies.