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
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
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A et al.
Journal of Medical Genetics, 2023
A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.
Sun L et al.
Frontiers in 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
Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.
Sytsma TM et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2022
American Association of Neuropathologists, Inc. Abstracts of the 96th Annual Meeting June 11-14, 2020.
Unknown Author
Journal of Neuropathology and Experimental Neurology, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S et al.
Neurology. Genetics, 2020
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