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Adeline Vanderver

Showing results (111-120 of 217) with videos related to

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Molecular Genetics and Metabolism|February 7, 2015
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesSumit Parikh, Geneviève Bernard, Richard J Leventer, et al.
Annals of the Rheumatic Diseases|June 8, 2014
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodiesEloy Cuadrado, Adeline Vanderver, Kristy J Brown, et al.
Human Mutation|March 4, 2020
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Mutation|August 3, 2022
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Pediatric Neurology|October 23, 2025
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's PerspectiveFrancesco Gavazzi, Virali Patel, Jacqueline A Erler, et al.
Journal of Inherited Metabolic Disease|October 23, 2023
Biochemical signatures of disease severity in multiple sulfatase deficiencyLaura A Adang, Samar Mowafy, Zackary M Herbst, et al.
Elife|May 29, 2020
<i>TUBB4A</i> mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse modelSunetra Sase, Akshata A Almad, C Alexander Boecker, et al.
American Journal of Human Genetics|August 23, 2011
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophyGeneviève Bernard, Eliane Chouery, Maria Lisa Putorti, et al.
Biorxiv : the Preprint Server for Biology|April 1, 2024
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic IntegrationsLucas Tricoli, Sunetra Sase, Julia Hacker, et al.
Molecular Genetics and Metabolism|February 5, 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statementRebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, et al.
Pageof 22

Showing results (111-120 of 217) with videos related to

Sort By:
Pageof 22
Molecular Genetics and Metabolism|February 7, 2015
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesSumit Parikh, Geneviève Bernard, Richard J Leventer, et al.
Annals of the Rheumatic Diseases|June 8, 2014
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodiesEloy Cuadrado, Adeline Vanderver, Kristy J Brown, et al.
Human Mutation|March 4, 2020
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Human Mutation|August 3, 2022
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGuy Helman, Asako Takanohashi, Tracy L Hagemann, et al.
Pediatric Neurology|October 23, 2025
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's PerspectiveFrancesco Gavazzi, Virali Patel, Jacqueline A Erler, et al.
Journal of Inherited Metabolic Disease|October 23, 2023
Biochemical signatures of disease severity in multiple sulfatase deficiencyLaura A Adang, Samar Mowafy, Zackary M Herbst, et al.
Elife|May 29, 2020
<i>TUBB4A</i> mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse modelSunetra Sase, Akshata A Almad, C Alexander Boecker, et al.
American Journal of Human Genetics|August 23, 2011
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophyGeneviève Bernard, Eliane Chouery, Maria Lisa Putorti, et al.
Biorxiv : the Preprint Server for Biology|April 1, 2024
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic IntegrationsLucas Tricoli, Sunetra Sase, Julia Hacker, et al.
Molecular Genetics and Metabolism|February 5, 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statementRebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, et al.
Pageof 22