Gesine Respondek

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 shows that neuronal and oligodendroglial tau, but not astroglial tau, contribute to tau-PET signals in 4-repeat tauopathies.

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.

This paper validates the 2017 MDS-PSP criteria for diagnosing PSP and variant syndromes using neuropathological data, showing higher sensitivity but lower specificity compared to older criteria.

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