Evidence map›Paper›PMID 36341169›Full record

ArticleJIMD reports2022

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo

Wui-Kwan Wong, Shanti Balasubramaniam, Rachel S H Wong, Nicole Graf, David R Thorburn, Robert McFarland, Christopher Troedson

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

Article in JIMD reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 36% 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

5 citing papers in PubMed, 4 citations in OpenAlex.

  1. Delineating theInternational journal of molecular sciences · 2026
    Review
  2. Article
  3. Article
  4. Isogenic iPSC-derivedFrontiers in neuroscience · 2025
    Article
  5. 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

7 authors at 4 institutions in 2 countries.

Wui-Kwan WongTY Nelson Department of Neurology and Neurosurgery The Children's Hospital at Westmead Sydney New South Wales Australia.ORCID https://orcid.org/0000-0002-1862-6306
Shanti BalasubramaniamGenetic Metabolic Disorders Service The Children's Hospital at Westmead Sydney New South Wales Australia.ORCID https://orcid.org/0000-0002-3087-1654
Rachel S H WongGenetic Metabolic Disorders Service The Children's Hospital at Westmead Sydney New South Wales Australia.
Nicole GrafDepartment of Histopathology The Children's Hospital at Westmead Sydney Australia.
David R ThorburnMurdoch Children's Research Institute Melbourne Victoria Australia.
Robert McFarlandWellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK.
Christopher TroedsonTY Nelson Department of Neurology and Neurosurgery The Children's Hospital at Westmead Sydney New South Wales Australia.
Children's Hospital at Westmead · AUNewcastle upon Tyne Hospitals NHS Foundation Trust · GBThe University of Melbourne · AUThe University of Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The C-terminal binding protein 1 (CTBP1) functions as a transcriptional corepressor in vertebrates and has been identified to have critical roles in nervous system growth and development. Pathogenic variants in the

Indexed as

CTBP1neurodevelopmental disordersecondary mitochondrial dysfunction

Identifiers

PMID36341169
PMCPMC9626656
OpenAlexW4293224962

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.