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Simona Balestrini

Showing results (81-90 of 119) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocolSimone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Brain : a Journal of Neurology|April 3, 2023
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' conditionHelena Martins Custodio, Lisa M Clayton, Ravishankara Bellampalli, et al.
Annals of Neurology|July 21, 2021
Postictal Psychosis in Epilepsy: A Clinicogenetic StudyVera Braatz, Helena Martins Custodio, Costin Leu, et al.
Epilepsia|December 21, 2024
Rare dysfunctional SCN2A variants are associated with malformation of cortical developmentJérôme Clatot, Christopher H Thompson, Susan Sotardi, et al.
Brain Communications|November 3, 2021
K.Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsyNatasha E Schoeler, Michael Orford, Umesh Vivekananda, et al.
Epilepsy & Behavior : E&B|December 6, 2020
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsySimona Balestrini, Matthias J Koepp, Sonia Gandhi, et al.
Epilepsia|May 3, 2022
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and DefinitionsElaine C Wirrell, Rima Nabbout, Ingrid E Scheffer, et al.
Epilepsia Open|August 23, 2024
Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarityAntonella Riva, Antonietta Coppola, Francesca Bisulli, et al.
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.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
Pageof 12

Showing results (81-90 of 119) with videos related to

Sort By:
Pageof 12
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocolSimone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Brain : a Journal of Neurology|April 3, 2023
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' conditionHelena Martins Custodio, Lisa M Clayton, Ravishankara Bellampalli, et al.
Annals of Neurology|July 21, 2021
Postictal Psychosis in Epilepsy: A Clinicogenetic StudyVera Braatz, Helena Martins Custodio, Costin Leu, et al.
Epilepsia|December 21, 2024
Rare dysfunctional SCN2A variants are associated with malformation of cortical developmentJérôme Clatot, Christopher H Thompson, Susan Sotardi, et al.
Brain Communications|November 3, 2021
K.Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsyNatasha E Schoeler, Michael Orford, Umesh Vivekananda, et al.
Epilepsy & Behavior : E&B|December 6, 2020
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsySimona Balestrini, Matthias J Koepp, Sonia Gandhi, et al.
Epilepsia|May 3, 2022
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and DefinitionsElaine C Wirrell, Rima Nabbout, Ingrid E Scheffer, et al.
Epilepsia Open|August 23, 2024
Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarityAntonella Riva, Antonietta Coppola, Francesca Bisulli, et al.
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.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
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