Jiri Safar

This study identifies genetic variants associated with clinical duration in sporadic CJD but finds no significant SNPs for age at onset.

This study investigates whether somatic mutations in PRNP contribute to sporadic Creutzfeldt-Jakob Disease (sCJD) by sequencing PRNP in 205 sCJD cases and 170 controls, finding no evidence of pathogenic somatic variants.

The paper shows that tau conformers in FTLD-MAPT undergo liquid-liquid phase separation and disrupt nuclear envelope function, leading to cell death and fibrillar structures.

The paper develops a targeted mass spectrometry method to quantify prion protein in CSF, confirming that reduced PrP levels in prion disease are due to the disease process, not ELISA artifacts.

This paper quantifies the challenges of designing preventive clinical trials for genetic prion disease due to high variability in age of onset, suggesting the need for biomarker-based trials.

This study evaluates ELISA-based quantification of PrP in CSF as a biomarker for PrP-reducing therapeutics, showing its reliability and CNS origin.