Sally Spendiff

The paper validates an optogenetic approach in zebrafish to study fatigable muscle weakness and NMJ function in CMS models, linking behavior, electrophysiology, and genetics.

KG-Bench benchmarks graph neural networks for drug repurposing using the Open Targets dataset, finding TransformerConv achieves the highest performance.

This study identifies cell-type-specific adaptations to mitochondrial stress in MTRFR mutations, showing cortical neurons activate survival programs while motor neurons undergo apoptosis.

This study shows that acute AMPK activation fails to improve insulin signaling in DM1 mouse and human models, indicating impaired insulin resistance mechanisms.

This study tests a MuSK agonist antibody in Agrn-CMS and ColQ-CMS mouse models, showing benefit in Agrn-CMS but not ColQ-CMS, highlighting gene-specific treatment responses.

This paper uses multilayer network analysis to identify molecular determinants of severity in Congenital Myasthenic Syndromes by integrating protein-protein interactions, pathways, and metabolomics data.

This study identifies a synaptic mechanism linking collagen VI to motor control through cannabinoid receptor interaction and shows that CB1R agonists can improve motor performance in a dystonia mouse model.