Stefanie Perrier
Montreal, QC, Canada
Last Updated: 09/26/2026
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Found 16 publications
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Journal: HGG advances
Published: April 18, 2025
Inherited white matter disorders: Hypomyelination (myelin disorders).
Journal: Handbook of clinical neurology
Published: September 25, 2024
Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.
Journal: Human mutation
Published: November 09, 2023
Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.
Journal: Frontiers in neurology
Published: July 06, 2023
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.
Journal: Brain : a journal of neurology
Published: January 20, 2023
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
Journal: Frontiers in neurology
Published: January 20, 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 literature.
Journal: Orphanet journal of rare diseases
Published: January 19, 2023
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults.
Journal: Neurology
Published: February 22, 2022
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
Journal: American journal of medical genetics. Part A
Published: August 27, 2021
Protection From Radiation-Induced Neuroanatomic Deficits by CCL2 Deficiency Is Dependent on Sex.
Journal: International journal of radiation oncology, biology, physics
Published: August 26, 2021
POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.
Journal: Frontiers in cellular neuroscience
Published: November 21, 2020
Last Updated: 09/26/2026