Robert Jech

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

Improving fMRI in Parkinson's Disease by Accounting for Brain Region-Specific Activity Patterns

The paper improves fMRI analysis in Parkinson's Disease by integrating kinematic data and event-related modeling to better detect subcortical activations and medication effects.

Older age is associated with a shift from ventral to dorsal PCC in pathways connecting the DMN with visual and limbic areas and a directionality shift in pathways connecting the DMN with sensorimotor areas

The paper identifies age-related changes in DMN connectivity patterns and their behavioral correlates using resting-state fMRI data from young and old individuals.

The sensitivity of ECG contamination to surgical implantation site in adaptive closed-loop neurostimulation systems

The paper investigates how implant location affects ECG contamination in neurostimulation systems, finding higher contamination in left-sided subclavicular implants compared to right-sided ones.

JuSpace: A tool for spatial correlation analyses of magnetic resonance imaging data with nuclear imaging derived neurotransmitter maps

JuSpace links MRI-based functional activity with neurotransmitter systems using cross-modal correlation, finding significant associations in Parkinson's disease and risperidone effects.