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Florence Riant

Showing results (61-70 of 68) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 22, 2020
Clinical phenotypes of infantile onset CACNA1A-related disorderTamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, et al.
Acta Neuropathologica Communications|June 1, 2022
The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profileArnault Tauziède-Espariat, Thibaut Pierre, Michel Wassef, et al.
Neurology|May 9, 2014
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 casesAurélie Méneret, Christel Depienne, Florence Riant, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 1, 2026
Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic MovementsClément Tarrano, Cécile Galléa, Asya Ekmen, et al.
Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
Ebiomedicine|December 27, 2023
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsJean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Pageof 7

Showing results (61-70 of 68) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 68 results.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 22, 2020
Clinical phenotypes of infantile onset CACNA1A-related disorderTamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, et al.
Acta Neuropathologica Communications|June 1, 2022
The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profileArnault Tauziède-Espariat, Thibaut Pierre, Michel Wassef, et al.
Neurology|May 9, 2014
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 casesAurélie Méneret, Christel Depienne, Florence Riant, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 1, 2026
Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic MovementsClément Tarrano, Cécile Galléa, Asya Ekmen, et al.
Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
Ebiomedicine|December 27, 2023
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsJean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Pageof 7