ArticleNPJ Parkinson's disease2022
Biallelic expansion in RFC1 as a rare cause of Parkinson's disease.
Article in NPJ Parkinson's disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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.
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
20 citing papers in PubMed, 34 citations in OpenAlex.
- Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1.Brain pathology (Zurich, Switzerland) · 2026Article
- Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.medRxiv : the preprint server for health sciences · 2026Article
- Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis.Neurology. Genetics · 2026Review
- Biallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease.Clinical genetics · 2026Article
- Pentanucleotide guanine-rich WGGGW repeats, including CANVAS AGGGA repeats, form a variety of noncanonical structures.Nucleic acids research · 2026Article
- Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease and Lewy Body Dementia cohorts.NPJ Parkinson's disease · 2025Article
- Emerging drivers of DNA repeat expansions.Biochemical Society transactions · 2025Review
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Non-coding repeat analyses in patients with Parkinson's disease.Frontiers in neurology · 2025Article
- Molecular Imaging in CANVAS: A Contribution for Differential Diagnosis?Movement disorders clinical practice · 2024Article
- Profiling complex repeat expansions in RFC1 in Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Structural investigation of pathogenic RFC1 AAGGG pentanucleotide repeats reveals a role of G-quadruplex in dysregulated gene expression in CANVAS.Nucleic acids research · 2024Article
- Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.Neurogenetics · 2024Article
- Adult-Onset Neuroepidemiology in Finland: Lessons to Learn and Work to Do.Journal of clinical medicine · 2023Review
- Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism.Journal of the peripheral nervous system : JPNS · 2022Article
- Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.Journal of neurology · 2022Article
- Article
- Movement disorders and neuropathies: overlaps and mimics in clinical practice.Journal of neurology · 2022Review
- The role of structural variations in Alzheimer's disease and other neurodegenerative diseases.Frontiers in aging neuroscience · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
An intronic expansion (AAGGG)
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.