Michael Schwake

The paper identifies a systemic age-dependent transcriptome imbalance driven by transcript length across multiple species and shows its correlation with splicing factors and environmental stressors.

The paper identifies bi-allelic variants in TSPOAP1 as a cause of autosomal recessive dystonia, showing different clinical presentations based on variant type.

This study investigates how KCNQ2 mutations affect neuronal excitability in patient-derived neurons, finding progressive hyperexcitability and altered firing patterns linked to impaired M-current.