Associated Papers
RNA-based discovery and correction of splicing defects caused by POLR3A missense mutations.
Shkreta L et al.
Molecular Therapy. Nucleic Acids, 2026
Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.
Carretero-Vilarroig L et al.
European Journal of Neurology, 2026
POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review.
Zhou M et al.
Frontiers in Genetics, 2026
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
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
Long-Term Benefit of Thalamic Deep Brain Stimulation in POLR3A Mutation-Associated Action Tremor.
Minnerop M et al.
Movement Disorders Clinical Practice, 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
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.
Sabbagh Q et al.
Journal of Neurology, 2025
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.
Schobers G et al.
European Journal of Human Genetics : Ejhg, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.
Yau WY et al.
Brain Communications, 2025
"Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report".
Sánchez-Román EJ et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations.
Refaat M et al.
Pathogens & Immunity, 2025
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.
Velasco HM et al.
European Journal of Human Genetics : Ejhg, 2024
Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.
Kraoua I et al.
Molecular Genetics & Genomic Medicine, 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
POLR3A-related disorders: expanding the clinical phenotype.
McKenna MC et al.
Journal of Neurology, 2024
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
An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.
Manibarathi K et al.
Stem Cell Research, 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
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders.
Zea Vera A et al.
Movement Disorders Clinical Practice, 2023
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
Perrier S et al.
Frontiers in Neurology, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.
Sun L et al.
Frontiers in Neurology, 2023
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R et al.
Neurology. Genetics, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL et al.
Nature Communications, 2022
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
Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
Bai H et al.
Medicine, 2022
Clinical exome sequencing-Mistakes and caveats.
Corominas J et al.
Human Mutation, 2022
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Di Donato I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022