Gregor Kuhlenbäumer

Copy Number Variant Duplications Associated with Essential Tremor

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.

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease

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.

An improved polygenic score for Parkinson's disease partly explains variable penetrance of genetic Parkinson's disease

The paper develops an improved polygenic score for idiopathic Parkinson's disease, showing higher discriminative performance and explaining variable penetrance in genetic forms of the disease.

Genome-wide association study of autopsy-confirmed Multiple System Atrophy identifies common variants near ZIC1 and ZIC4