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Deborah Renaud

Showing results (1-10 of 8) with videos related to

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JIMD Reports|June 18, 2015
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular FindingsDeborah Renaud, Michael Brodsky
Child Neurology Open|October 25, 2021
Neuropsychological Functioning in Alexander Disease: A Case SeriesAlexandra C Kirsch, Dana M McCall, Hadley Lange, et al.
Molecular Genetics and Metabolism|May 11, 2013
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromesMatthew S Comeaux, Jing Wang, Guoli Wang, et al.
Pediatric Neurology|March 19, 2025
POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care SystemAdam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, et al.
Journal of Child Neurology|October 21, 2024
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot StudyLaura Lentini, Helia Toutounchi, Alexandra Chapleau, et al.
Pediatric Neurology|January 10, 2026
The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative StudyAdam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, et al.
Journal of Child Neurology|February 12, 2008
Genetic and clinical heterogeneity in eIF2B-related disorderJelena Maletkovic, Raphael Schiffmann, J Rafael Gorospe, et al.
Molecular Genetics and Metabolism|November 26, 2013
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoringSylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
JIMD Reports|June 18, 2015
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular FindingsDeborah Renaud, Michael Brodsky
Child Neurology Open|October 25, 2021
Neuropsychological Functioning in Alexander Disease: A Case SeriesAlexandra C Kirsch, Dana M McCall, Hadley Lange, et al.
Molecular Genetics and Metabolism|May 11, 2013
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromesMatthew S Comeaux, Jing Wang, Guoli Wang, et al.
Pediatric Neurology|March 19, 2025
POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care SystemAdam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, et al.
Journal of Child Neurology|October 21, 2024
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot StudyLaura Lentini, Helia Toutounchi, Alexandra Chapleau, et al.
Pediatric Neurology|January 10, 2026
The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative StudyAdam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, et al.
Journal of Child Neurology|February 12, 2008
Genetic and clinical heterogeneity in eIF2B-related disorderJelena Maletkovic, Raphael Schiffmann, J Rafael Gorospe, et al.
Molecular Genetics and Metabolism|November 26, 2013
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoringSylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, et al.
Pageof 1