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Stephanie Schorge

Showing results (41-50 of 69) with videos related to

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Neurology|November 16, 2012
New immunohistochemical method for improved myotonia and chloride channel mutation diagnosticsOlayinka Raheem, Sini Penttilä, Tiina Suominen, et al.
Science Translational Medicine|November 14, 2012
Optogenetic and potassium channel gene therapy in a rodent model of focal neocortical epilepsyRobert C Wykes, Joost H Heeroma, Laura Mantoan, et al.
The Journal of Physiology|February 17, 2010
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsySanjeev Rajakulendran, Tracey D Graves, Robyn W Labrum, et al.
Scientific Reports|November 28, 2019
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutationMichael G Thor, Vinojini Vivekanandam, Marisol Sampedro-Castañeda, et al.
Human Mutation|November 30, 2019
SCN1A variants from bench to bedside-improved clinical prediction from functional characterizationAndreas Brunklaus, Stephanie Schorge, Alexander D Smith, et al.
Brain : a Journal of Neurology|August 29, 2022
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypesTobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, et al.
Cell Reports|January 30, 2020
Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down SyndromePishan Chang, Daniel Bush, Stephanie Schorge, et al.
Brain : a Journal of Neurology|September 16, 2021
Translating genetic and functional data into clinical practice: a series of 223 families with myotoniaKaren Suetterlin, Emma Matthews, Richa Sud, et al.
Brain : a Journal of Neurology|December 15, 2023
Anti-seizure gene therapy for focal cortical dysplasiaAmanda Almacellas Barbanoj, Robert T Graham, Benito Maffei, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 5, 2005
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoinSarah K Tate, Chantal Depondt, Sanjay M Sisodiya, et al.
Pageof 7

Showing results (41-50 of 69) with videos related to

Sort By:
Pageof 7
Neurology|November 16, 2012
New immunohistochemical method for improved myotonia and chloride channel mutation diagnosticsOlayinka Raheem, Sini Penttilä, Tiina Suominen, et al.
Science Translational Medicine|November 14, 2012
Optogenetic and potassium channel gene therapy in a rodent model of focal neocortical epilepsyRobert C Wykes, Joost H Heeroma, Laura Mantoan, et al.
The Journal of Physiology|February 17, 2010
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsySanjeev Rajakulendran, Tracey D Graves, Robyn W Labrum, et al.
Scientific Reports|November 28, 2019
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutationMichael G Thor, Vinojini Vivekanandam, Marisol Sampedro-Castañeda, et al.
Human Mutation|November 30, 2019
SCN1A variants from bench to bedside-improved clinical prediction from functional characterizationAndreas Brunklaus, Stephanie Schorge, Alexander D Smith, et al.
Brain : a Journal of Neurology|August 29, 2022
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypesTobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, et al.
Cell Reports|January 30, 2020
Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down SyndromePishan Chang, Daniel Bush, Stephanie Schorge, et al.
Brain : a Journal of Neurology|September 16, 2021
Translating genetic and functional data into clinical practice: a series of 223 families with myotoniaKaren Suetterlin, Emma Matthews, Richa Sud, et al.
Brain : a Journal of Neurology|December 15, 2023
Anti-seizure gene therapy for focal cortical dysplasiaAmanda Almacellas Barbanoj, Robert T Graham, Benito Maffei, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 5, 2005
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoinSarah K Tate, Chantal Depondt, Sanjay M Sisodiya, et al.
Pageof 7