Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Renzo Guerrini

Showing results (521-530 of 611) with videos related to

Pageof 62
Sort By:
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Epilepsia|November 20, 2018
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter studyMarina Trivisano, Nicola Pietrafusa, Alessandra Terracciano, et al.
Neurology|January 9, 2015
The phenotypic spectrum of SCN8A encephalopathyJan Larsen, Gemma L Carvill, Elena Gardella, et al.
Journal of Neurology|September 6, 2021
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
Neurology|October 28, 2022
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the <i>SLC35A2</i> GeneCarmen Barba, Ingmar Blumcke, Melodie R Winawer, et al.
Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Journal of Neurology|February 16, 2023
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
Nature Genetics|October 4, 2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopiaLoïc Broix, Hélène Jagline, Ekaterina Ivanova, et al.
Journal of Neurology|October 15, 2021
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Pageof 62

Showing results (521-530 of 611) with videos related to

Sort By:
Pageof 62
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Epilepsia|November 20, 2018
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter studyMarina Trivisano, Nicola Pietrafusa, Alessandra Terracciano, et al.
Neurology|January 9, 2015
The phenotypic spectrum of SCN8A encephalopathyJan Larsen, Gemma L Carvill, Elena Gardella, et al.
Journal of Neurology|September 6, 2021
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
Neurology|October 28, 2022
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the <i>SLC35A2</i> GeneCarmen Barba, Ingmar Blumcke, Melodie R Winawer, et al.
Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Journal of Neurology|February 16, 2023
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
Nature Genetics|October 4, 2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopiaLoïc Broix, Hélène Jagline, Ekaterina Ivanova, et al.
Journal of Neurology|October 15, 2021
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Pageof 62