Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
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Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.
De Dominicis A et al.
Epilepsia, 2025
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Symonds JD et al.
Epilepsia, 2024
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
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum.
Colona VL et al.
Brain Sciences, 2023
Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.
Yang F et al.
Clinical 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
Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
Ando M et al.
Annals of Clinical and Translational Neurology, 2022
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D et al.
American Journal of Human Genetics, 2021
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