Evidence map›Paper›PMID 31788426›Full record

ArticleMolecular genetics and metabolism reports2019

A novel variant m.8561C>T in the overlapping region of

Konstantina Fragaki, Annabelle Chaussenot, Valerie Serre, Cecile Acquaviva, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-Flucklinger

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 32% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.

  1. Pooled it
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  11. The ATP Synthase Deficiency in Human Diseases.Life (Basel, Switzerland) · 2021
    Review
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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

8 authors at 4 institutions in 1 country.

Konstantina FragakiUniversité Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.
Annabelle ChaussenotUniversité Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.
Valerie SerreUMR7592 CNRS, Institut Jacques Monod, Université Paris Diderot, Nice, France.
Cecile AcquavivaDepartment of Inborn Errors of Metabolism and Neonatal Screening, Center of Biology and Pathology Est CHU, Lyon Bron, France.
Sylvie BannwarthUniversité Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.
Cecile RouzierUniversité Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.
Brigitte ChabrolDepartment of Neuropediatrics, Timone Hospital, CHU, Marseille, France.
Veronique Paquis-FlucklingerUniversité Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.
Inserm · FRUniversité Côte d'Azur · FRHôpital de la Timone · FRUniversité Paris Cité · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Among mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA),

Indexed as

ADP, adenosine triphosphateAtaxiaATP, adenosine triphosphateATP synthaseBN-PAGE, Blue Native-PolyAcrylamide Gel ElectrophoresisCV, complex VMicrocephalyMitochondrial disordersMRI, Magnetic resonance imagingmtDNA, mitochondrial DNANARP, Neuropathy, Ataxia, Retinitis PigmentosaNGS, Next-generation sequencingOXPHOS, oxidative phosphorylationPCR, polymerase chain reactionPsychomotor delayPVDF, PolyVinyliDene FluorideRC, respiratory chainRFLP, Restriction Fragment Length PolymorphismWT, wild-type

Identifiers

PMID31788426
PMCPMC6879992
OpenAlexW2990690203

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.