3 results match your criteria: "Foundation National Neurological Institute C Mondino Institute for Hospitalization and Care Scientific[Affiliation]"
J Neurol Neurosurg Psychiatry
December 2023
CORe, Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia
J Med Genet
August 2022
Medical Genetics Unit, Foundation National Neurological Institute C Mondino Institute for Hospitalization and Care Scientific, Pavia, Italy
The primary anatomical defect leading to periventricular nodular heterotopia occurs within the neural progenitors along the neuroepithelial lining of the lateral ventricles and results from a defect in the initiation of neuronal migration, following disruption of the neuroependyma and impaired neuronal motility. Growing evidence indicates that the -dependent actin dynamics and regulation of vesicle formation and trafficking by activation of ADP-ribosylation factors (ARFs) can play an important role in this cortical malformation. We report the first inherited variant of in a girl with intellectual disability and periventricular nodular heterotopia who inherited the variant from the father with previously undiagnosed single nodular heterotopia and mild clinical expression.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
September 2020
Department of Medical, Surgical Science and Advanced Technology "GF Ingrassia", section of neurosciences, Università degli Studi di Catania, Catania, Sicilia, Italy
Introduction: Delta-δ-tetrahydrocannabinol and cannabidiol (THC:CBD) oromucosal spray is used as an add-on therapy option for moderate to severe multiple sclerosis (MS) spasticity resistant to other medications. Aims of this study were to provide real-life data on long-term clinical outcomes in a large population of Italian patients treated with THC:CBD and to evaluate predictors of THC:CBD therapy continuation.
Materials And Methods: This prospective observational multicentre Italian study screened all patients with MS consecutively included in the Agenzia Italiana del Farmaco e-registry at the start of THC:CBD treatment (baseline), after 4 weeks (T1), 12±3 weeks (T2), 24±3 weeks (T3), 48±3 weeks (T4) and 72±3 weeks (T5) from baseline.