Evidence map›Paper›PMID 32949124›Full record

ArticleBrain : a journal of neurology2020

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.

Kishore R Kumar, Andrea Cortese, Susan E Tomlinson, Stephanie Efthymiou, Melina Ellis, Danqing Zhu, Marion Stoll, Natalia Dominik, Stephen Tisch, Michel Tchan and 10 more

Abstract readLetterComment
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain : a journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing 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

20 citing papers in PubMed.

  1. Article
  2. Article
  3. Pseudodominance in RFC1-Spectrum Disorder.Cerebellum (London, England) · 2024
    Article
  4. Article
  5. Article
  6. Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    Review
  7. Article
  8. Advances in diagnosis and management of distal sensory polyneuropathies.Journal of neurology, neurosurgery, and psychiatry · 2023
    Review
  9. Review
  10. Article
  11. Observational
  12. Truncating Variants inNeurology · 2023
    Article
  13. Brain communications · 2023
    Article
  14. Neurology. Genetics · 2022
    Article
  15. Cough hypersensitivity and chronic cough.Nature reviews. Disease primers · 2022
    Review
  16. Genetic pain loss disorders.Nature reviews. Disease primers · 2022
    Review
  17. Review
  18. Article
  19. Multi-typeFrontiers in neurology · 2022
    Article
  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors.

Kishore R KumarMolecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Andrea CorteseDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Susan E TomlinsonSydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Stephanie EfthymiouDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Melina EllisNorthcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia.
Danqing ZhuMolecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Marion StollMolecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Natalia DominikDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Stephen TischDepartment of Neurology, St Vincent's Hospital, Darlinghurst, Sydney, Australia.
Michel TchanSydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Kathy H C WuSchool of Medicine, University of New South Wales, Sydney, Australia.
Sophie DeverySt Vincent's Clinical Genomics, St Vincent's Hospital, Sydney, Australia.
Penelope J SpringNeurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Simon HawkeSydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Phillip CremerSydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Karl NgSydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Mary M ReillyDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Garth A NicholsonMolecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Henry HouldenDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Marina KennersonMolecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.

Funding

Medical Research Council MR/T001712/1Wellcome Trust
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Cerebellar AtaxiaHereditary Sensory and Autonomic NeuropathiesSjogren's SyndromeVestibular NeuronitisCoughHumans

Identifiers

PMID32949124
PMCPMC7586083

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.