Helen E. Devine

This study identifies conserved transcriptional changes in motor neurons from human and mouse SBMA models, revealing shared dysregulation in pathways like spliceosome, cell cycle, and mitochondrial function across developmental and disease stages.

The paper develops an automated image processing pipeline with machine learning to classify motor neuron phenotypes in ALS tissue at single-cell resolution, revealing common morphological aberrations and validating their discriminative power between ALS and healthy tissue.

The paper identifies post-transcriptional changes during motor neurogenesis in ALS models, showing premature intron retention in VCP-mutant cells and similar effects in SOD1 and FUS mutations.