SYNaPS Study Group

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

Undiagnosed Diseases Network, J. Rosenfeld, P. Striano, 2022, The Cerebellum.

A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation

S. Efthymiou, H. Houlden, M. Waqas, 2023, Genes & diseases.