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Cyril Mignot

Showing results (71-80 of 236) with videos related to

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Neurobiology of Disease|May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channelsAffef Abidi, Jérôme J Devaux, Florence Molinari, et al.
Brain : a Journal of Neurology|March 27, 2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxiaRebekah K Jobling, Mirna Assoum, Oleksandr Gakh, et al.
American Journal of Human Genetics|March 4, 2022
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsyAmbrin Fatima, Jan Hoeber, Jens Schuster, et al.
Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.
Pediatric Neurology|July 4, 2025
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 IndividualsMeghane Durizot, Lydie Burglen, Catherine Garel, et al.
Orphanet Journal of Rare Diseases|October 30, 2013
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progressionCyril Mignot, Emmanuelle Apartis, Alexandra Durr, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
Searching for secondary findings: considering actionability and preserving the right not to knowBertrand Isidor, Sophie Julia, Pascale Saugier-Veber, et al.
Epilepsia|October 22, 2019
The epileptology of GNB5 encephalopathyGemma Poke, Chontelle King, Alison Muir, et al.
Epilepsia|December 24, 2024
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control studyEmanuele Cerulli Irelli, Martina Fanella, Boris Chaumette, et al.
Pageof 24

Showing results (71-80 of 236) with videos related to

Sort By:
Pageof 24
Neurobiology of Disease|May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channelsAffef Abidi, Jérôme J Devaux, Florence Molinari, et al.
Brain : a Journal of Neurology|March 27, 2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxiaRebekah K Jobling, Mirna Assoum, Oleksandr Gakh, et al.
American Journal of Human Genetics|March 4, 2022
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsyAmbrin Fatima, Jan Hoeber, Jens Schuster, et al.
Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.
Pediatric Neurology|July 4, 2025
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 IndividualsMeghane Durizot, Lydie Burglen, Catherine Garel, et al.
Orphanet Journal of Rare Diseases|October 30, 2013
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progressionCyril Mignot, Emmanuelle Apartis, Alexandra Durr, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
Searching for secondary findings: considering actionability and preserving the right not to knowBertrand Isidor, Sophie Julia, Pascale Saugier-Veber, et al.
Epilepsia|October 22, 2019
The epileptology of GNB5 encephalopathyGemma Poke, Chontelle King, Alison Muir, et al.
Epilepsia|December 24, 2024
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control studyEmanuele Cerulli Irelli, Martina Fanella, Boris Chaumette, et al.
Pageof 24