Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Isabelle Desguerre

Showing results (41-50 of 235) with videos related to

Pageof 24
Sort By:
Molecular Genetics and Metabolism Reports|June 12, 2025
Tissue-specific mitochondrial DNA, <i>MT-TF,</i> pathogenic variants in mitochondrial myopathiesSylvia Rose, Aurélien Trimouille, Didier Lacombe, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|September 2, 2025
Cumulative motor index in spinal muscular atrophy after gene therapy: baseline predicts maximal recoveryRémi Barrois, Christine Barnerias, Anaïs Hervé, et al.
Developmental Medicine and Child Neurology|December 17, 2009
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesisChristine Barnerias, Jean-Marie Saudubray, Guy Touati, et al.
Brain : a Journal of Neurology|June 17, 2022
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegiaYosuke Hashimoto, Karine Poirier, Nathalie Boddaert, et al.
Journal of Inherited Metabolic Disease|June 29, 2023
Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019Domitille Laur, Samia Pichard, Soumeya Bekri, et al.
Developmental Medicine and Child Neurology|August 9, 2013
Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 childrenGiulia Barcia, Isabelle Desguerre, Orietta Carmona, et al.
European Journal of Pediatrics|March 22, 2023
Neurological features related to influenza virus in the pediatric population: a 3-year monocentric retrospective studyViolette Goetz, David-Dawei Yang, Hanene Abid, et al.
Haematologica|August 18, 2012
Mutations in the telomere capping complex in bone marrow failure and related syndromesAmanda J Walne, Tanya Bhagat, Michael Kirwan, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 31, 2017
Sleep in infants with congenital myasthenic syndromesSerena Caggiano, Sonia Khirani, Elisabetta Verrillo, et al.
Developmental Medicine and Child Neurology|May 11, 2013
Brain magnetic resonance imaging pattern and outcome in children with haemolytic-uraemic syndrome and neurological impairment treated with eculizumabCyril Gitiaux, Pauline Krug, David Grevent, et al.
Pageof 24

Showing results (41-50 of 235) with videos related to

Sort By:
Pageof 24
Molecular Genetics and Metabolism Reports|June 12, 2025
Tissue-specific mitochondrial DNA, <i>MT-TF,</i> pathogenic variants in mitochondrial myopathiesSylvia Rose, Aurélien Trimouille, Didier Lacombe, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|September 2, 2025
Cumulative motor index in spinal muscular atrophy after gene therapy: baseline predicts maximal recoveryRémi Barrois, Christine Barnerias, Anaïs Hervé, et al.
Developmental Medicine and Child Neurology|December 17, 2009
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesisChristine Barnerias, Jean-Marie Saudubray, Guy Touati, et al.
Brain : a Journal of Neurology|June 17, 2022
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegiaYosuke Hashimoto, Karine Poirier, Nathalie Boddaert, et al.
Journal of Inherited Metabolic Disease|June 29, 2023
Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019Domitille Laur, Samia Pichard, Soumeya Bekri, et al.
Developmental Medicine and Child Neurology|August 9, 2013
Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 childrenGiulia Barcia, Isabelle Desguerre, Orietta Carmona, et al.
European Journal of Pediatrics|March 22, 2023
Neurological features related to influenza virus in the pediatric population: a 3-year monocentric retrospective studyViolette Goetz, David-Dawei Yang, Hanene Abid, et al.
Haematologica|August 18, 2012
Mutations in the telomere capping complex in bone marrow failure and related syndromesAmanda J Walne, Tanya Bhagat, Michael Kirwan, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 31, 2017
Sleep in infants with congenital myasthenic syndromesSerena Caggiano, Sonia Khirani, Elisabetta Verrillo, et al.
Developmental Medicine and Child Neurology|May 11, 2013
Brain magnetic resonance imaging pattern and outcome in children with haemolytic-uraemic syndrome and neurological impairment treated with eculizumabCyril Gitiaux, Pauline Krug, David Grevent, et al.
Pageof 24