Showing results (231-240 of 256) with videos related to
Sort By:
Pageof 26
Journal of Neurology, Neurosurgery, and Psychiatry|April 27, 2021
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsiesSimona Balestrini, Daniela Chiarello, Maria Gogou, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 12, 2020
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patientsGanna Balagura, Antonella Riva, Francesca Marchese, et al.Epilepsia|October 29, 2022
The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter studyEmanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, et al.Frontiers in Molecular Neuroscience|April 23, 2024
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disordersMichele Iacomino, Nadia Houerbi, Sara Fortuna, et al.Journal of the Neurological Sciences|March 27, 2021
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlationsAntonella Riva, Alessandro Orsini, Marcello Scala, et al.Epilepsia|April 6, 2023
Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myocloniaEmanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, et al.Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.Neurology|June 3, 2021
Clinical and Genetic Features in Patients With Reflex Bathing EpilepsyAndrea Accogli, Gert Wiegand, Marcello Scala, et al.Seizure|June 23, 2020
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlationsAndrea Accogli, Mariasavina Severino, Antonella Riva, et al.Orphanet Journal of Rare Diseases|July 19, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disordersPaola Borgia, Simona Baldassari, Nicoletta Pedemonte, et al.Pageof 26