Browsing by Subject "neurodegeneration"
Now showing items 1-2 of 2
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Behavioral and Transcriptome Profiling of Heterozygous Rab10 Knock-Out Mice
(2023-05-08)A central question in the field of aging research is to identify the cellular and molecular basis of neuroresilience. One potential candidate is the small GTPase, Rab10. Here, we used Rab101/ mice to investigate the ... -
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
(2016-03)Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children ...