Franziska Hopfner

This study identifies rare copy number duplications in protein coding regions as risk factors for essential tremor, but does not reliably identify specific susceptibility genes.

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 identifies SNX5 knockdown as protective against alpha-synuclein toxicity in a Parkinson's disease cell model through genome-wide RNA interference screening.

This study identifies six genetic loci associated with progressive supranuclear palsy, including a novel locus, and links them to oligodendrocytic dysfunction and C4A expression.

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 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.