Evidence map›Paper›PMID 40481300›Full record

ArticleCerebellum (London, England)2025

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Kayli C Davies, Haloom Rafehi, Liam G Fearnley, Penny Snell, Greta Gillies, Tess A Field, Gábor M Halmágyi, Kishore R Kumar, Kate Pope, Renee Smyth and 10 more

Abstract read
PubMed Publisher
In one paragraph

Article in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

Kayli C DaviesBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.
Haloom RafehiPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia.
Liam G FearnleyPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia.
Penny SnellBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.
Greta GilliesBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.
Tess A FieldBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.
Gábor M HalmágyiNeurology Department, Royal Prince Alfred Hospital, Camperdown, NSW, 2050, Australia.
Kishore R KumarMolecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, NSW, 2139, Australia.
Kate PopeBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.
Renee SmythSt Vincent's Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, 2010, Australia.
Susan E TomlinsonSchool of Medicine, University of Notre Dame, Darlinghurst, NSW, 2010, Australia.
Stephen TischSchool of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia.
Chi-Chang TangBalance Disorders and Ataxia Service, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia.
Shaun R D WatsonPrince of Wales Clinical School, University of New South Wales, Randwick, NSW, 2013, Australia.
Thomas WellingsDepartment of Neurology, John Hunter Hospital, New Lambton Heights, NSW, 2305, Australia.
Kathy H C WuSt Vincent's Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, 2010, Australia.
David J SzmulewiczBalance Disorders and Ataxia Service, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia.
Martin B DelatyckiBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.
Melanie BahloPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia.
Paul J LockhartBruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia. paul.lockhart@mcri.edu.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

RFC1-related disease, which includes cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), is a late-onset neurodegenerative disorder primarily caused by biallelic AAGGG

Indexed as

Cerebellar AtaxiaDNA Repeat ExpansionReplication Protein CAdultAgedAllelesAustraliaCohort StudiesFemaleGene FrequencyHumansMaleMiddle AgedReplication Protein CRFC1 protein, humanCANVASCerebellar ataxiaRepeat expansionRepeat heterogeneityRFC1

Identifiers

PMID40481300

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.