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Journal of Neurology|April 29, 2023
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopiaKarina Paliotti, Christelle Dassi, Saoussen Berrahmoune, et al.
Italian Journal of Pediatrics|July 8, 2020
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' projectElisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 28, 2021
CASK related disorder: Epilepsy and developmental outcomeThea Giacomini, Sara Nuovo, Ginevra Zanni, et al.
Journal of Neurology|July 6, 2020
Cell-based assays for the detection of MOG antibodies: a comparative studyMatteo Gastaldi, Silvia Scaranzin, Sven Jarius, et al.
Multiple Sclerosis and Related Disorders|January 3, 2020
Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patientsThea Giacomini, Thomas Foiadelli, Pietro Annovazzi, et al.
Frontiers in Pediatrics|May 16, 2022
A Phenotypic-Driven Approach for the Diagnosis of WOREE SyndromeAntonella Riva, Giulia Nobile, Thea Giacomini, et al.
Multiple Sclerosis and Related Disorders|February 5, 2026
First demyelinating attack in children: A twelve year single center cohortAlessandro Santagostino Barbone, Thea Giacomini, Silvia Casabona, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2022
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective studyMatteo Gastaldi, Thomas Foiadelli, Giacomo Greco, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalitiesMarcello Scala, Kamal Khan, Claire Beneteau, 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.
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