Evidence map›Paper›PMID 41783485›Full record

ArticleMolecular genetics and metabolism reports2026

Characterization of a

Gerardo G Piroli, Rebecca Myers, Lynda Holloway, Andrew Hayek, Ellen Linebaugh, Julie R Jones, Cindy Skinner, Steven A Skinner, Norma Frizzell, Richard Steet

Abstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

10 authors.

Gerardo G PiroliDepartment of Pharmacology, Physiology & Neuroscience, School of Medicine, University of South Carolina, 6439 Garners Ferry Road, Columbia, SC 29209, USA.
Rebecca MyersGreenwood Genetic Center, Greenwood, SC 29646, USA.
Lynda HollowayGreenwood Genetic Center, Greenwood, SC 29646, USA.
Andrew HayekDepartment of Pharmacology, Physiology & Neuroscience, School of Medicine, University of South Carolina, 6439 Garners Ferry Road, Columbia, SC 29209, USA.
Ellen LinebaughGreenwood Genetic Center, Greenwood, SC 29646, USA.
Julie R JonesGreenwood Genetic Center, Greenwood, SC 29646, USA.
Cindy SkinnerGreenwood Genetic Center, Greenwood, SC 29646, USA.
Steven A SkinnerGreenwood Genetic Center, Greenwood, SC 29646, USA.
Norma FrizzellDepartment of Pharmacology, Physiology & Neuroscience, School of Medicine, University of South Carolina, 6439 Garners Ferry Road, Columbia, SC 29209, USA.
Richard SteetGreenwood Genetic Center, Greenwood, SC 29646, USA.

Funding

Investigating Citric Acid Cycle Perturbations in Complex I Deficient Mitochondrial EncephalopathyR01NS126851 · NINDS · UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA · PI FRIZZELL, NORMA · 2022 to 2025
$1.5M
NINDS NIH HHS R01 NS126851
6 · The paper itself

Abstract

Primary mitochondrial defects underlie the heterogeneity of many rare inherited disorders. Pathogenic variants that disrupt the function of the multi-subunit protein complexes of the mitochondrial respiratory chain contribute to a range of neurological phenotypes and other clinical manifestations. These variants are also thought to contribute to the onset and progression of numerous more common neurodegenerative conditions such as Parkinson's and Alzheimer's disease. Here we describe an individual affected with progressive muscle weakness and pain harboring a paternally inherited missense variant in

Indexed as

Complex IIIMitochondriaMitochondrial transplantationRespirationUQCRC1UQCRC2

Identifiers

PMID41783485
PMCPMC12954188

What Socratic 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 Socratic graph.