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

Elsa Rossignol

Showing results (41-50 of 55) with videos related to

Pageof 6
Sort By:
Multiple Sclerosis and Related Disorders|June 15, 2023
Clinical course, imaging, and pathological features of 45 adult and pediatric cases of myelin oligodendrocyte glycoprotein antibody-associated diseaseHayet Boudjani, Giulia Fadda, Gabrielle Dufort, et al.
Human Molecular Genetics|December 22, 2017
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesisJuliette Piard, Jia-Hua Hu, Philippe M Campeau, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.
Epilepsia|December 6, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityAmy L Schneider, Candace T Myers, Alison M Muir, et al.
Biorxiv : the Preprint Server for Biology|September 2, 2025
Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathyAfitz Da Silva, Samuel Boris Tene Tadoum, Irena J J Muffels, et al.
Journal of Medical Genetics|May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.
Pediatric Neurology|August 24, 2024
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental DisorderMaria Carla Borroto, Heena Patel, Siddharth Srivastava, et al.
Human Mutation|September 30, 2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophyJae-Ran Lee, Myriam Srour, Doyoun Kim, et al.
American Journal of Human Genetics|July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe CasesYoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
Multiple Sclerosis and Related Disorders|June 15, 2023
Clinical course, imaging, and pathological features of 45 adult and pediatric cases of myelin oligodendrocyte glycoprotein antibody-associated diseaseHayet Boudjani, Giulia Fadda, Gabrielle Dufort, et al.
Human Molecular Genetics|December 22, 2017
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesisJuliette Piard, Jia-Hua Hu, Philippe M Campeau, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.
Epilepsia|December 6, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityAmy L Schneider, Candace T Myers, Alison M Muir, et al.
Biorxiv : the Preprint Server for Biology|September 2, 2025
Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathyAfitz Da Silva, Samuel Boris Tene Tadoum, Irena J J Muffels, et al.
Journal of Medical Genetics|May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.
Pediatric Neurology|August 24, 2024
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental DisorderMaria Carla Borroto, Heena Patel, Siddharth Srivastava, et al.
Human Mutation|September 30, 2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophyJae-Ran Lee, Myriam Srour, Doyoun Kim, et al.
American Journal of Human Genetics|July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe CasesYoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.
Pageof 6