Tetsuo Ashizawa

The paper identifies sense and antisense RAN proteins as a common mechanism in CAG-SCAs, showing their accumulation and toxicity in brain regions and demonstrating metformin's ability to reduce RAN protein levels.

This study uses MRI volumetrics to analyze cerebellar and brainstem degeneration in SCA3, finding consistent atrophy patterns and reduced cerebrocerebellar covariance.

This study shows that CCG*CGG interruptions in SCA8 repeat expansions increase RAN protein levels and toxicity, contributing to higher disease penetrance.

The paper develops a statistical framework to evaluate mRNA biomarkers for DM1 treatment efficacy using machine learning and microarray data.