Mathieu Fischer

The paper identifies a protective variant CREB3R119G that reduces ALS risk and progression by modulating CREB3 activity in vulnerable neurons.

This paper develops CRISPR-Lock, a CRISPR/dCas13 RNA blocker that disrupts miRNA-target interactions and rescues DM1 pathology by correcting splicing biomarkers and reducing nuclear foci.

The paper shows that removing mutant SOD1G37R from corticofugal projection neurons prevents their degeneration but does not affect ALS onset or progression.

This study shows that removing subcerebral projection neurons in ALS mice delays disease onset and improves survival, supporting the corticofugal hypothesis of ALS.

The paper identifies early RNA metabolism and splicing alterations in corticospinal neurons in an ALS mouse model, suggesting shared mechanisms across ALS-related genes.