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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 ...
VZV in biopsy-positive and -negative giant cell arteritis: Analysis of 100+ temporal arteries
(2016-03)
Objective:
Varicella-zoster virus (VZV) infection may trigger the inflammatory cascade that characterizes giant cell arteritis (GCA).
Methods:
Formalin-fixed, paraffin-embedded GCA-positive temporal artery (TA) biopsies ...