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Alfonso Represa

Showing results (51-60 of 56) with videos related to

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Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Epilepsia|January 12, 2011
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods CommissionIngmar Blümcke, Maria Thom, Eleonora Aronica, et al.
Molecular Psychiatry|June 30, 2021
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neuronsKaren Runge, Rémi Mathieu, Stéphane Bugeon, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
Epilepsy & Behavior : E&B|June 13, 2013
Consensus on diagnosis and management of JME: From founder's observations to current trendsDorothée G A Kasteleijn-Nolst Trenité, Bettina Schmitz, Dieter Janz, et al.
Pageof 6

Showing results (51-60 of 56) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 56 results.
Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Epilepsia|January 12, 2011
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods CommissionIngmar Blümcke, Maria Thom, Eleonora Aronica, et al.
Molecular Psychiatry|June 30, 2021
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neuronsKaren Runge, Rémi Mathieu, Stéphane Bugeon, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
Epilepsy & Behavior : E&B|June 13, 2013
Consensus on diagnosis and management of JME: From founder's observations to current trendsDorothée G A Kasteleijn-Nolst Trenité, Bettina Schmitz, Dieter Janz, et al.
Pageof 6