Charlotte J. Sumner

This paper develops a standardized framework to accurately quantify motor neuron loss across neurodegenerative diseases by addressing variability in sampling and marker specificity.

The paper identifies cerebellar pathology as a conserved yet distinct feature in severe SMA, showing divergent therapeutic outcomes with SMN-restoring therapies.

This study identifies a p53-ΔNp73 signaling axis that drives motor neuron degeneration in SMA, revealing a context-dependent switch in p53 family signaling that promotes neurodegeneration.

This study shows that SMN deficiency reduces KIF5A in SMA, impairing axon regeneration, and links SMA and ALS through KIF5A stabilization by SMN.