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Silvana Franceschetti

Showing results (161-170 of 178) with videos related to

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Epilepsy Research|April 16, 2019
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literatureJacopo C DiFrancesco, Barbara Castellotti, Raffaella Milanesi, et al.
American Journal of Human Genetics|May 10, 2011
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Todor Arsov, Katherine R Smith, John Damiano, et al.
Brain Communications|November 21, 2025
Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.
Neurology. Genetics|November 17, 2021
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved CasesLaura Canafoglia, Silvana Franceschetti, Antonio Gambardella, et al.
Human Molecular Genetics|January 9, 2013
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisKatherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, et al.
Epilepsy Research|August 26, 2019
An Italian multicentre study of perampanel in progressive myoclonus epilepsiesLaura Canafoglia, Giuseppina Barbella, Edoardo Ferlazzo, et al.
Brain : a Journal of Neurology|December 19, 2018
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic featuresSamuel F Berkovic, Karen L Oliver, Laura Canafoglia, 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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 12, 2020
Antidepressant effect of vagal nerve stimulation in epilepsy patients: a systematic reviewGiovanni Assenza, Mario Tombini, Jacopo Lanzone, et al.
American Journal of Human Genetics|April 2, 2021
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genesCarolina Courage, Karen L Oliver, Eon Joo Park, et al.
Pageof 18

Showing results (161-170 of 178) with videos related to

Sort By:
Pageof 18
Epilepsy Research|April 16, 2019
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literatureJacopo C DiFrancesco, Barbara Castellotti, Raffaella Milanesi, et al.
American Journal of Human Genetics|May 10, 2011
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Todor Arsov, Katherine R Smith, John Damiano, et al.
Brain Communications|November 21, 2025
Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.
Neurology. Genetics|November 17, 2021
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved CasesLaura Canafoglia, Silvana Franceschetti, Antonio Gambardella, et al.
Human Molecular Genetics|January 9, 2013
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisKatherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, et al.
Epilepsy Research|August 26, 2019
An Italian multicentre study of perampanel in progressive myoclonus epilepsiesLaura Canafoglia, Giuseppina Barbella, Edoardo Ferlazzo, et al.
Brain : a Journal of Neurology|December 19, 2018
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic featuresSamuel F Berkovic, Karen L Oliver, Laura Canafoglia, 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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 12, 2020
Antidepressant effect of vagal nerve stimulation in epilepsy patients: a systematic reviewGiovanni Assenza, Mario Tombini, Jacopo Lanzone, et al.
American Journal of Human Genetics|April 2, 2021
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genesCarolina Courage, Karen L Oliver, Eon Joo Park, et al.
Pageof 18