PI
-
Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction
André, T., van Berkel, A. A., Singh, G., Abualrous, E. T., Diwan, G. D., Schmenger, T., Braun, L., Malsam, J. R., Toonen, R. F., Freund, C., Russell, R. B., Verhage, M. & Söllner, T. H., 15 Jul 2024, In: Biological Psychiatry. 96, 2, p. 125-136 12 p.Research output: Contribution to journal › Article › Academic › peer-review
-
Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F
Öttl, M., Toonen, R. F. & Verhage, M., 1 Jun 2024, In: Human Molecular Genetics. 33, 11, p. 991-1000 10 p.Research output: Contribution to journal › Article › Academic › peer-review
-
A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release
van Boven, M. A., Mestroni, M., Zwijnenburg, P. J. G., Verhage, M. & Cornelisse, L. N., Jun 2024, In: Molecular psychiatry. 29, 6, p. 1798-1809 12 p.Research output: Contribution to journal › Article › Academic › peer-review
- All publications