Evidence map›Paper›PMID 33634263›Full record

ArticleBrain communications2021

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in

Neil V Morgan, Bryndis Yngvadottir, Mary O'Driscoll, Graeme R Clark, Diana Walsh, Ezequiel Martin, Louise Tee, Evan Reid, Hannah L Titheradge, Eamonn R Maher

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.7field-weighted citation impact, top 18% of its field
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

11 citing papers in PubMed, 17 citations in OpenAlex.

  1. Review
  2. Article
  3. HPDL Variant Type Correlates With Clinical Disease Onset and Severity.Annals of clinical and translational neurology · 2025
    Observational
  4. Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Case Report: Two Families WithFrontiers in genetics · 2022
    Article
  10. Leigh syndrome-like MRI changes in a patient with biallelicMolecular genetics and metabolism reports · 2021
    Article
  11. 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

10 authors at 3 institutions in 1 country.

Neil V MorganInstitute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.
Bryndis YngvadottirDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.
Mary O'DriscollWest Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.
Graeme R ClarkDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.
Diana WalshWest Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.
Ezequiel MartinDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.ORCID 0000-0002-0051-8868
Louise TeeInstitute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.
Evan ReidDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.ORCID 0000-0003-1623-7304
Hannah L TitheradgeWest Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.
Eamonn R MaherDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.ORCID 0000-0002-6226-6918
University of Cambridge · GBBirmingham Women’s and Children’s NHS Foundation Trust · GBUniversity of Birmingham · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A subset of individuals diagnosed with cerebral palsy will have an underlying genetic diagnosis. Previously, a missense variant in

Indexed as

autosomal recessivecerebral palsyinherited

Identifiers

PMID33634263
PMCPMC7892364
OpenAlexW3107329990

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.