ArticleJournal of neurology2022
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Article in Journal of neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed, 25 citations in OpenAlex.
- Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.Journal of applied genetics · 2026Article
- Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants.Annals of clinical and translational neurology · 2026Article
- Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.Cerebellum (London, England) · 2025Article
- FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.Annals of clinical and translational neurology · 2025Article
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Optical genome mapping enables accurate testing of large repeat expansions.Genome research · 2025Article
- High Prevalence of the Intronic GAA-Neurology. Genetics · 2025Article
- Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients withBrain communications · 2025Article
- An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome).Molecular neurobiology · 2025Review
- Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.EBioMedicine · 2024Article
- Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.Nature reviews. Genetics · 2024Review
- RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.Movement disorders clinical practice · 2024Article
- Article
- Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.Brain : a journal of neurology · 2024Article
- Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.Brain : a journal of neurology · 2023Article
- Optical Genome Mapping Enables Detection and Accurate Sizing ofBiomolecules · 2023Article
- The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3.Genes · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently, an intronic biallelic (AAGGG)
Indexed as
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.