Jia Newcombe

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 investigates FUS mislocalization in ALS, finding it occurs in both VCP-mutation related and sporadic ALS, and links it to aberrant intron retention in SFPQ transcripts.

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.