Sophie Colombo

This study shows that reducing ganglioside synthesis delays motor and cognitive symptoms in Spg11 knockout mice and reduces axonal spheroids.

The paper develops topological synchrony measures to identify disease-relevant phenotypes in mouse models of epileptic encephalopathies using MEAs.

The paper shows that activating β-catenin in Schwann-cell precursors during a specific developmental window promotes melanocyte specification over Schwann cell fate.

This study examines HNRNPU haploinsufficiency in mice, identifying neuroanatomical and transcriptomic changes, and highlights cell-type-specific gene expression dysregulation in excitatory neurons.

The paper investigates how a gain-of-function K+ channel variant causes seizures by reducing inhibitory neuron excitability and increasing network hyperconnectivity.

This study identifies GNB1 mutations causing neurodevelopmental disorder and shows ethosuximide effectively treats symptoms in mouse and cellular models.