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
POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review.
Zhou M et al.
Frontiers in Genetics, 2026
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.
Yau WY et al.
Annals of Clinical and Translational Neurology, 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
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
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.
Morales-Rosado JA et al.
Molecular Genetics & Genomic Medicine, 2020
32597037 (PubMed )
Supplement: MGG3-8-e1341-s001.docx
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.
Campopiano R et al.
Bmc Neurology, 2020
POLR3A-Related Disorder Presenting with Late-Onset Dystonia and Spastic Paraplegia.
de Assis Pereira Matos PCA et al.
Movement Disorders Clinical Practice, 2020
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.
Choquet K et al.
The Journal of Biological Chemistry, 2019
30898877 (PubMed )
Supplement: supp_RA118.006271_141325_2_supp_296209_pnx8q1.xlsx › Table_S5
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.
Minnerop M et al.
Brain : a Journal of Neurology, 2018
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M et al.
Brain : a Journal of Neurology, 2017
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Bernard G et al.
American Journal of Human Genetics, 2011
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