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Pierre Meyer

Showing results (61-70 of 72) with videos related to

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Journal of Cachexia, Sarcopenia and Muscle|January 14, 2024
Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathyMonia Souidi, Jessica Resta, Haikel Dridi, et al.
Epilepsy & Behavior : E&B|December 16, 2021
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathyClaire Bar, Delphine Breuillard, Mathieu Kuchenbuch, et al.
Movement Disorders Clinical Practice|May 19, 2023
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase DeficiencyMarie-Céline François-Heude, Gaetan Poulen, Emmanuel Flamand Roze, et al.
Annals of Neurology|September 22, 2020
Clinical Features and Risk of Relapse in Children and Adults with Myelin Oligodendrocyte Glycoprotein Antibody-Associated DiseaseAlvaro Cobo-Calvo, Anne Ruiz, Fabien Rollot, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 2, 2026
Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French CohortClément Dunoyer, Gaëtan Poulen, Marie-Céline François-Heude, et al.
The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
Ebiomedicine|July 12, 2024
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsNazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamicsAnaïs Begemann, Heinrich Sticht, Amber Begtrup, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Journal of Cachexia, Sarcopenia and Muscle|January 14, 2024
Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathyMonia Souidi, Jessica Resta, Haikel Dridi, et al.
Epilepsy & Behavior : E&B|December 16, 2021
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathyClaire Bar, Delphine Breuillard, Mathieu Kuchenbuch, et al.
Movement Disorders Clinical Practice|May 19, 2023
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase DeficiencyMarie-Céline François-Heude, Gaetan Poulen, Emmanuel Flamand Roze, et al.
Annals of Neurology|September 22, 2020
Clinical Features and Risk of Relapse in Children and Adults with Myelin Oligodendrocyte Glycoprotein Antibody-Associated DiseaseAlvaro Cobo-Calvo, Anne Ruiz, Fabien Rollot, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 2, 2026
Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French CohortClément Dunoyer, Gaëtan Poulen, Marie-Céline François-Heude, et al.
The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
Ebiomedicine|July 12, 2024
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsNazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamicsAnaïs Begemann, Heinrich Sticht, Amber Begtrup, et al.
Pageof 8