Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.
De Dominicis A et al.
Epilepsia, 2025
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Geroldi A et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A et al.
Journal of Medical Genetics, 2023
Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.
Pinard M et al.
Molecular Brain, 2022
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations.
Yang HJ et al.
Neurology. Genetics, 2022
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D et al.
American Journal of Human Genetics, 2021
Structure of human RNA polymerase III.
Ramsay EP et al.
Nature Communications, 2020
33335104 (PubMed )
Supplement: 41467_2020_20262_MOESM4_ESM.xlsx › Sheet1
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