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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.
Nair LS et al.
Pediatric 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
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A et al.
Journal of Medical Genetics, 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
Genetic findings in adolescent and adult-onset leukodystrophies with hypomyelinating features.
Macaron G et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Córdoba M et al.
Plos One, 2018
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy.
Potic A et al.
Bmc Neurology, 2015
[The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia].
Rodríguez-Quiroga SA et al.
Medicina, 2013
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.
Potic A et al.
Archives of Neurology, 2012
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