Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.
Manibarathi K et al.
Stem Cell Research, 2024
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
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
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
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Wambach JA et al.
American Journal of Human 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
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
Jay AM et al.
American Journal of Medical Genetics. Part A, 2016
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