Research projects

Dissecting the molecular basis of ciliopathies
Molecular characterization of encephalopathies with onset in childhood
The only project not focusing on brain malformations is our work on Stormorken syndrome, 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 mouse knock-in models expressing the Stormorken syndrome mutation
 
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