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Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
Daniel F Burgos, Lorena Cussó, Gentzane Sánchez-Elexpuru, Daniel Calle, Max Bautista Perpinyà, Manuel Desco, José M Serratosa, Marina P Sánchez
Oct 21, 2020
Mutations in the EPM2A and EPM2B genes, encoding laforin and malin proteins respectively, are responsible for Lafora disease, a fatal form of progressive myoclonus epilepsy with autosomal recessive inheritance. Neuroimaging...
1H-HRMAS MRS FDG PET Lafora disease MRI brain metabolites Mouse models Volumetry Animals Atrophy basal ganglia Brain Brain Diseases cerebellum Cerebral Cortex Disease Models Animal Glucose Hippocampus Humans Lafora Disease Magnetic Resonance Imaging Mice Knockout Mutation Positron-Emission Tomography Protein Tyrosine Phosphatases Non-Receptor Ubiquitin-Protein Ligases