Azienda Usl Toscana Centro

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring. While a...

From research to practice: transforming patient-reported data reporting through a collaborative digital system

Purpose Innovation in the healthcare (HC) sector presents challenges and complexities. Universities and research centers can play a role in HC innovation collaborative initiatives. This article examines how collaborative co-creation between academia and HC organizations enabled t...

Regional brain metabolism and metabolic connectivity alterations in corticobasal syndrome assessed with [18F]FDG-PET

PURPOSE: F]FDG-PET) studies have described regional metabolic abnormalities but detailed subcortical and cerebellar structures involvement is less known and metabolic connectivity remains unexplored. This study combined voxel-based, region-of-interest (ROI) analyses and connectiv...