Associated Papers
RNA-based discovery and correction of splicing defects caused by POLR3A missense mutations.
Shkreta L et al.
Molecular Therapy. Nucleic Acids, 2026
41732205 (PubMed )
Supplement: mmc2.xlsx › POLR3A-clinvar_result
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.
Kraoua I et al.
Molecular Genetics & Genomic Medicine, 2024
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Khan A et al.
Molecular Genetics & Genomic Medicine, 2024
38348603 (PubMed )
Supplement: MGG3-12-e2274-s001.pdf
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.
Michell-Robinson MA et al.
Brain : a Journal of Neurology, 2023
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
36140376 (PubMed )
Supplement: biomedicines-10-02276-s001.zip › Supplementary_Table_S1.xlsx › HGMD_database
Defective myelination in an RNA polymerase III mutant leukodystrophic mouse.
Merheb E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
RNA Polymerase III Subunit Mutations in Genetic Diseases.
Lata E et al.
Frontiers in Molecular Biosciences, 2021
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