Rohan de Silva

The paper identifies shared genetic and epigenetic mechanisms at the MOBP locus linking ALS and PSP, with distinct patterns from MSA.

The paper identifies an oligodendrocyte DNA methylation signature in Alzheimer's disease that is preserved across brain regions and disease stages, and is associated with altered gene expression in OLGs.

The paper uses data-driven analysis of amyloid-beta peptides to identify biomarkers for familial Alzheimer's disease and predict age-at-onset in PSEN1 mutation carriers.

The paper investigates DNA methylation changes in FTLD risk genes across different subtypes and finds shared hypomethylation in STX6 and other loci, with significant effects in PSP cases.

The paper identifies novel APP transcripts that generate Aβ independently of β-secretase, showing their expression and presence in CSF.

This study identifies syntaxin-6 as a modifier of prion and tau pathogenesis, showing it affects disease onset but not progression in experimental models.

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.

This study identifies a genetic variant at the TRIM11 locus associated with Progressive Supranuclear Palsy phenotype through GWAS and validates it in independent cohorts.