ArticleNeurology. Genetics2022
Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genome-wide meta-analysis identifies genetic risk loci for mono- and polyneuropathies in 983 477 individuals.Human molecular genetics · 2026Pooled it
- The Spectrum of Peripheral-Vestibular Deficits and Their Change Over Time in CANVAS/RFC1-Related Ataxia Systematic Review and Meta-Analysis of Quantitative Head-Impulse Testing.Cerebellum (London, England) · 2025Pooled it
- Uncovering Neuropathic Pain in CANVAS: Lessons from a Case-Based Literature Review.Pain and therapy · 2026Review
- Cramps as the initial presentation of CANVAS/RFC1-related disorder.Journal of neuromuscular diseases · 2026Article
- Systematic Analysis of MRTFB Phosphoproteomic Datasets Reveals Co-Regulated Kinase Networks and Co-Occurring Phosphosites Associated with the Actin Cytoskeleton Pathway.Current issues in molecular biology · 2026Article
- Performance Evaluation of PacBio PureTarget for Multiple Short Tandem Repeat Expansion Detection.Annals of laboratory medicine · 2026Article
- Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.Journal of applied genetics · 2026Article
- Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Bi- and Mono-Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy.Annals of clinical and translational neurology · 2026Article
- Confirmatory Molecular Diagnosis ofJournal of clinical neurology (Seoul, Korea) · 2026Article
- Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS.Journal of neurology · 2026Article
- Behavioural Swallowing Interventions for Persons with Ataxic Etiologies: A Systematic Review.Dysphagia · 2026Article
- Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.Brain : a journal of neurology · 2026Article
- Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.International journal of molecular sciences · 2026Review
- RFC1 Repeat Expansion in Chronic Cough: Findings From the Korean Chronic Cough Registry.Allergy, asthma & immunology research · 2026Article
- Longitudinal Evaluation of Ataxia and Brain Structural Changes in RFC1-Related Disorder.Movement disorders clinical practice · 2025Article
- RFC1 regulates the expansion of neural progenitors in the developing zebrafish cerebellum.Nature communications · 2025Article
- Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.Cerebellum (London, England) · 2025Article
- Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.Annals of clinical and translational neurology · 2025Article
- Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.NPJ Parkinson's disease · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 2019, a biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (
Identifiers
What OpenQuestion holds
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.