Research projects

Molecular characterization of encephalopathies with childhood onset
Novel genes causing primary cilia dysfunction in congenital brain malformations (Doriana Misceo's project group)
The only project not focusing on brain malformations is our work on Stormorken syndrome (OMIM 185070), which was initiated >20 years ago in collaboration with Prof. Helge Stormorken. We have documented that the mutation STIM1 p.R304W causes this syndrome, and we have established mouse lines expressing the mutated protein: 
Studying the effect of the Stormorken syndrome causing mutation STIM1 R304W in mouse models


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