Associated Papers
RNA-based discovery and correction of splicing defects caused by POLR3A missense mutations.
Shkreta L et al.
Molecular Therapy. Nucleic Acids, 2026
Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.
Rey F et al.
Cell Communication and Signaling : Ccs, 2026
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
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Magnetic resonance imaging and spectroscopy in hypomyelinating leukodystrophy.
Takanashi JI
Brain & Development, 2025
Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.
Luo X et al.
Journal of Translational Medicine, 2025
Neuropsychological profile of POLR3A-related spastic ataxia.
Cypers G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
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
Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Ruan DD et al.
Scientific Reports, 2024
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Khan A et al.
Molecular Genetics & Genomic Medicine, 2024
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Kovalskaia VA et al.
Genes, 2024
POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience.
Liu J et al.
Frontiers in Neurology, 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
Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement.
Moon B et al.
Clinical and Experimental Pediatrics, 2023
Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders.
Zea Vera A et al.
Movement Disorders Clinical Practice, 2023
A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.
Sun L et al.
Frontiers in Neurology, 2023
Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation-Case report.
Nikkhah A et al.
Clinical Case Reports, 2022
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.
Yoon Han J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
Perrier S et al.
American Journal of Medical Genetics. Part A, 2022
A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing.
Peng Q et al.
Frontiers in Molecular Neuroscience, 2022
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
RNA Polymerase III Subunit Mutations in Genetic Diseases.
Lata E et al.
Frontiers in Molecular Biosciences, 2021
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.
Zanette V et al.
Neurology. Genetics, 2020
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
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S et al.
Neurology. Genetics, 2020
POLR3A variants in striatal involvement without diffuse hypomyelination.
Hiraide T et al.
Brain & Development, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Harting I et al.
Neurogenetics, 2020
Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.
Wu S et al.
Bmc Pediatrics, 2019
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Rydning SL et al.
Brain : a Journal of Neurology, 2019
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
Diffuse hypomyelination is not obligate for POLR3-related disorders.
La Piana R et al.
Neurology, 2016