Pol 3-Related Leukodystrophy Latest Advances
Find the Latest Research About Pol 3-Related Leukodystrophy
Last Updated: 04/28/2026
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Found 65 publications
POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings.
Journal: Cureus
Published: August 21, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Journal: HGG advances
Published: April 18, 2025
POLR3 gene and protein expression dynamics in 4H leukodystrophy using iPSC-derived neuronal lineages.
Journal: Stem cell research
Published: November 30, 2024
Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.
Journal: bioRxiv : the preprint server for biology
Published: January 03, 2024
Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.
Journal: Human mutation
Published: November 09, 2023
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Journal: Journal of the peripheral nervous system : JPNS
Published: September 07, 2023
Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Journal: Scientific reports
Published: September 06, 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
Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.
Journal: Molecular and cellular biology
Published: May 24, 2023
The First Case of 4H Syndrome with Type 1 Diabetes Mellitus
Journal: Journal of clinical research in pediatric endocrinology
Published: March 28, 2023
Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.
Journal: Frontiers in neuroscience
Published: February 15, 2023
Last Updated: 04/28/2026