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Stefanie Perrier

Showing results (1-10 of 15) with videos related to

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Child Neurology Open|January 25, 2021
Classifying Hypomyelination: A Critical (White) MatterStefanie Perrier, Sara Matovic, Geneviève Bernard
Handbook of Clinical Neurology|September 25, 2024
Inherited white matter disorders: Hypomyelination (myelin disorders)Stefanie Perrier, Laurence Gauquelin, Geneviève Bernard
Frontiers in Cellular Neuroscience|February 26, 2021
POLR3-Related Leukodystrophy: Exploring Potential Therapeutic ApproachesStefanie Perrier, Mackenzie A Michell-Robinson, Geneviève Bernard
American Journal of Medical Genetics. Part A|November 13, 2021
Distinguishing severe phenotypes associated with pathogenic variants in POLR3AStefanie Perrier, Laurence Gauquelin, Jennifer A Wambach, et al.
NPJ Genomic Medicine|November 28, 2025
A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanismsAlexandra Chapleau, Stefanie Perrier, Thomas M Durcan, et al.
Neurology|February 22, 2022
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in AdultsMackenzie A Michell-Robinson, Stefanie Perrier, Cassandra Lucia, et al.
International Journal of Radiation Oncology, Biology, Physics|February 10, 2022
Protection From Radiation-Induced Neuroanatomic Deficits by CCL2 Deficiency Is Dependent on SexA Elizabeth de Guzman, Mashal Ahmed, Stefanie Perrier, et al.
Orphanet Journal of Rare Diseases|July 13, 2023
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literatureAna Potic, Stefanie Perrier, Tijana Radovic, et al.
Frontiers in Neurology|November 2, 2023
Biallelic pathogenic variants in <i>POLR3D</i> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case reportJulia Macintosh, Stefanie Perrier, Maxime Pinard, et al.
Human Mutation|April 14, 2025
Novel Pathogenic Variants in <i>POLR3K</i> Cause POLR3-Related LeukodystrophyStefanie Perrier, Julia Macintosh, Agata D Misiaszek, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Child Neurology Open|January 25, 2021
Classifying Hypomyelination: A Critical (White) MatterStefanie Perrier, Sara Matovic, Geneviève Bernard
Handbook of Clinical Neurology|September 25, 2024
Inherited white matter disorders: Hypomyelination (myelin disorders)Stefanie Perrier, Laurence Gauquelin, Geneviève Bernard
Frontiers in Cellular Neuroscience|February 26, 2021
POLR3-Related Leukodystrophy: Exploring Potential Therapeutic ApproachesStefanie Perrier, Mackenzie A Michell-Robinson, Geneviève Bernard
American Journal of Medical Genetics. Part A|November 13, 2021
Distinguishing severe phenotypes associated with pathogenic variants in POLR3AStefanie Perrier, Laurence Gauquelin, Jennifer A Wambach, et al.
NPJ Genomic Medicine|November 28, 2025
A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanismsAlexandra Chapleau, Stefanie Perrier, Thomas M Durcan, et al.
Neurology|February 22, 2022
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in AdultsMackenzie A Michell-Robinson, Stefanie Perrier, Cassandra Lucia, et al.
International Journal of Radiation Oncology, Biology, Physics|February 10, 2022
Protection From Radiation-Induced Neuroanatomic Deficits by CCL2 Deficiency Is Dependent on SexA Elizabeth de Guzman, Mashal Ahmed, Stefanie Perrier, et al.
Orphanet Journal of Rare Diseases|July 13, 2023
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literatureAna Potic, Stefanie Perrier, Tijana Radovic, et al.
Frontiers in Neurology|November 2, 2023
Biallelic pathogenic variants in <i>POLR3D</i> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case reportJulia Macintosh, Stefanie Perrier, Maxime Pinard, et al.
Human Mutation|April 14, 2025
Novel Pathogenic Variants in <i>POLR3K</i> Cause POLR3-Related LeukodystrophyStefanie Perrier, Julia Macintosh, Agata D Misiaszek, et al.
Pageof 2