ArticleBrain : a journal of neurology2019
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Article in Brain : a journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- Deep brain stimulation for arm tremor: one-year blinded follow-up of a randomized trial.Neurological research and practice · 2026Article
- Article
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- "Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report".Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- Deep Brain Stimulation of the VIM for Tremor in a Patient with POLR3A-Associated Cerebellar Syndrome Without Long-Term Benefit.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- POLR3A-related disorders: expanding the clinical phenotype.Journal of neurology · 2024Article
- POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.Annals of clinical and translational neurology · 2024Article
- Novel Pathogenic Variants inHuman mutation · 2024Article
- Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inJournal of medical genetics · 2023Article
- Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation-Case report.Clinical case reports · 2022Article
- Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.Neuropathology : official journal of the Japanese Society of Neuropathology · 2022Article
- A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemiaFrontiers in molecular neuroscience · 2022Article
- Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Frontiers in molecular biosciences · 2021Review
- RNA Polymerase III Subunit Mutations in Genetic Diseases.Frontiers in molecular biosciences · 2021Review
- Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.Annals of clinical and translational neurology · 2020Article
- Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.Molecular genetics & genomic medicine · 2020Article
- A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.BMC neurology · 2020Article
- POLR3A variants with striatal involvement and extrapyramidal movement disorder.Neurogenetics · 2020Article
- Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.Molecular genetics & genomic medicine · 2020Article
- POLR3A-related spastic ataxia: new mutations and a look into the phenotype.Journal of neurology · 2020Article
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Authors and funding
12 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.