Norbert Brüggemann

This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.

This study compares trio, singleton, and standard genome sequencing in rare disease diagnosis, finding trio sequencing has the highest diagnostic yield.

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

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.

The paper investigates FGF14 repeat interruptions in ataxia patients and unaffected individuals, finding that mosaic interruptions (mDRILS) correlate with age at onset and affect pathogenicity.

This study identifies a novel intronic GAA repeat expansion in FGF14 as a cause of autosomal dominant adult-onset ataxia, with (GAA)>335 being fully penetrant and (GAA)>250 likely pathogenic.

The paper identifies mitochondrial DNA heteroplasmy as a marker distinguishing disease manifestation in PINK1/PRKN mutation carriers.

This study investigates motor sequence learning deficits in Parkinson's disease using fMRI, finding increased substantia nigra activity correlates with learning impairments and dopaminergic medication use.

This study uses Mendelian randomization to assess the causal relationship between glycemic and anthropometric traits and Parkinson's disease risk, finding protective effects of waist-hip ratio and suggestive associations with fasting glucose.