Evidence map›Paper›PMID 30847826›Full record

ArticleCerebellum (London, England)2019

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.

Ahmet Okay Caglayan, Hakan Gumus, Erin Sandford, Thomas L Kubisiak, Qianyi Ma, A Bilge Ozel, Huseyin Per, Jun Z Li, Vikram G Shakkottai, Margit Burmeister

Open access · greenAbstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Cerebellum (London, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
1.5field-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

24 citing papers in PubMed, 30 citations in OpenAlex.

  1. Trial
  2. Article
  3. Review
  4. Clinical, genetic, and advanced neuroimaging features in adult siblings with Q10 deficiency due to COQ4 mutation: Review of literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  5. Article
  6. Review
  7. Review
  8. Primary Coenzyme Q10 Deficiency-Related Ataxias.Journal of clinical medicine · 2024
    Review
  9. Review
  10. Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023
    Review
  11. Biosynthesis, Deficiency, and Supplementation of Coenzyme Q.Antioxidants (Basel, Switzerland) · 2023
    Review
  12. Article
  13. Article
  14. Article
  15. Review
  16. Cellular Models for Primary CoQ Deficiency Pathogenesis Study.International journal of molecular sciences · 2021
    Review
  17. Article
  18. Review
  19. Article
  20. 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 2 countries.

Ahmet Okay CaglayanDepartment of Medical Genetics, School of Medicine, Demiroglu Bilim University, 34394, Istanbul, Turkey.
Hakan GumusDivision of Pediatric Neurology, Department of Pediatrics, School of Medicine, Erciyes University, 38039, Kayseri, Turkey.
Erin SandfordMolecular & Behavioral Neuroscience Institute, University of Michigan, 5061 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Thomas L KubisiakMolecular & Behavioral Neuroscience Institute, University of Michigan, 5061 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Qianyi MaDepartments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA.
A Bilge OzelDepartments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Huseyin PerDivision of Pediatric Neurology, Department of Pediatrics, School of Medicine, Erciyes University, 38039, Kayseri, Turkey.
Jun Z LiDepartments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Vikram G ShakkottaiDepartment of Neurology, Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA.
Margit BurmeisterMolecular & Behavioral Neuroscience Institute, University of Michigan, 5061 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA. margit@umich.edu.ORCID http://orcid.org/0000-0002-1914-2434
University of Michigan · USErciyes University · TRIstanbul Bilim University · TR

Funding

Ataxia gene identification by integrated genomic analysisR01NS078560 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BURMEISTER, MARGIT, LI, JUN · 2012 to 2015
$2.1M
National Institute of Neurological Disorders and Stroke NS078560NINDS NIH HHS R01 NS078560
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AdultCerebellar AtaxiaFibroblastsHumansMaleMitochondriaMitochondrial DiseasesMitochondrial ProteinsMuscle, SkeletalMutationUbiquinonecoenzyme Q10COQ4 protein, humanMitochondrial ProteinsUbiquinone

Identifiers

PMID30847826
PMCPMC6536000
OpenAlexW2921906473

What OpenQuestion holds

Textmetadata
LicenceTDM
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.