Evidence map›Paper›PMID 35222531›Full record

ArticleFrontiers in genetics2022

Case Report: Two Families With

Ieva Micule, Baiba Lace, Nathan T Wright, Nicolas Chrestian, Jurgis Strautmanis, Mikus Diriks, Janis Stavusis, Dita Kidere, Elfa Kleina, Anna Zdanovica and 8 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 2022. 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
1.0field-weighted citation impact, top 25% 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, 13 citations in OpenAlex.

  1. Bypass Treatments for Primary Coenzyme Q10 Deficiency: An Update.International journal of molecular sciences · 2026
    Review
  2. A bioinorganic view on the potential chemical space of hydroxyphenylpyruvate dioxygenase-like (HPDL) enzymes.Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2026
    Article
  3. Article
  4. Article
  5. HPDL Variant Type Correlates With Clinical Disease Onset and Severity.Annals of clinical and translational neurology · 2025
    Observational
  6. 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
  7. Article
  8. Review
  9. Article
  10. Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023
    Review
  11. Neuroimaging in Primary Coenzyme-QAntioxidants (Basel, Switzerland) · 2023
    Review
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

18 authors at 5 institutions in 4 countries.

Ieva MiculeLatvian Biomedical Research and Study Centre, Riga, Latvia.
Baiba LaceLatvian Biomedical Research and Study Centre, Riga, Latvia.
Nathan T WrightDepartment of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA, United States.
Nicolas ChrestianDepartment of Pediatric Neurology, Pediatric Neuromuscular Disorders, Centre Mère Enfant Soleil, Laval University, Québec, QC, Canada.
Jurgis StrautmanisChildren's Clinical University Hospital, Riga, Latvia.
Mikus DiriksChildren's Clinical University Hospital, Riga, Latvia.
Janis StavusisLatvian Biomedical Research and Study Centre, Riga, Latvia.
Dita KidereLatvian Biomedical Research and Study Centre, Riga, Latvia.
Elfa KleinaLatvian Biomedical Research and Study Centre, Riga, Latvia.
Anna ZdanovicaLatvian Biomedical Research and Study Centre, Riga, Latvia.
Nataly LaflammeCentre de recherche CHU de Québec, Laval University, Québec, QC, Canada.
Nadie RiouxCentre de recherche CHU de Québec, Laval University, Québec, QC, Canada.
Samarth Thonta SettyCentre de recherche CHU de Québec, Laval University, Québec, QC, Canada.
Sander PajusaluDepartment of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Arnaud DroitCentre de recherche CHU de Québec, Laval University, Québec, QC, Canada.
Monkol LekDepartment of Genetics, Yale University School of Medicine, New Haven, CT, United States.
Serge RivestCentre de recherche CHU de Québec, Laval University, Québec, QC, Canada.
Inna InashkinaLatvian Biomedical Research and Study Centre, Riga, Latvia.
Latvian Biomedical Research and Study Centre · LVUniversité Laval · CAChildren's Clinical University Hospital · LVYale University · USJames Madison University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

There are recent reports of associations of variants in the

Indexed as

ataxiabrain diseasescitrate-synthasemitochondrial diseasesspastic paraplegia

Identifiers

PMID35222531
PMCPMC8864118
OpenAlexW4211029027

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.