Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.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
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
Yan H et al.
Journal of Human Genetics, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
Fellner A et al.
Clinical Genetics, 2021
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
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S et al.
Neurology. Genetics, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Harting I et al.
Neurogenetics, 2020
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Rydning SL et al.
Brain : a Journal of Neurology, 2019
30847471 (PubMed )
Supplement: awz041_supplementary_materials.pdf
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Paolacci S et al.
Journal of Medical Genetics, 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
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Azmanov DN et al.
Human Molecular Genetics, 2016
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