Evidence map›Paper›PMID 40846977›Full record

ArticleSkeletal muscle2025

NAD

Tokunbor A Lawal, Willa Riekhof, Linda Groom, Pooja Varma, Irene C Chrismer, Angela Kokkinis, Christopher Grunseich, Jessica W Witherspoon, Muslima S Razaqyar, Ninet Sinaii and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Skeletal muscle, 2025. 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. 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

17 authors.

Tokunbor A LawalSkeletal Myopathies Unit, Translational Biobehavioral and Health Disparities Branch, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Willa RiekhofSkeletal Myopathies Unit, Translational Biobehavioral and Health Disparities Branch, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Linda GroomDepartment of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.
Pooja VarmaSkeletal Myopathies Unit, Translational Biobehavioral and Health Disparities Branch, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Irene C ChrismerSkeletal Myopathies Unit, Translational Biobehavioral and Health Disparities Branch, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Angela KokkinisInherited Neuromuscular Diseases Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Christopher GrunseichInherited Neuromuscular Diseases Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Jessica W WitherspoonSkeletal Myopathies Unit, Translational Biobehavioral and Health Disparities Branch, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Muslima S RazaqyarSkeletal Myopathies Unit, Translational Biobehavioral and Health Disparities Branch, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Ninet SinaiiBiostatistics and Clinical Epidemiology Service, National Institutes of Health Clinical Center, Bethesda, MD, USA.
Katherine G MeilleurSkeletal Myopathies Unit, Translational Biobehavioral and Health Disparities Branch, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Lichen XiangSkeletal Myopathies Unit, Translational Biobehavioral and Health Disparities Branch, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Jana BuzkovaNADMed Ltd, Biomedicum 1, Haartmaninkatu 8, Helsinki, Finland.
Liliya EuroNADMed Ltd, Biomedicum 1, Haartmaninkatu 8, Helsinki, Finland.
Payam MohasselJohns Hopkins University School of Medicine, Baltimore, MD, USA.
Robert T DirksenDepartment of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.
Joshua J ToddNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. joshua.todd@nih.gov.

Funding

Functional characterization of genetic variants of uncertain significance in genes associated with excitation-contraction coupling disordersZIANR000040 · NINR · NATIONAL INSTITUTE OF NURSING RESEARCH · PI LAWAL, TOKUNBOR · 2023 to 2025
$895k
Intramural NIH HHS ZIA NR000040NIH Bench to Bedside Award 10-2013/Office of Rare Disease/NINRNINR NIH HHS 1ZIANR000040-02
6 · The paper itself

Abstract

backgroundPathogenic variants in RYR1 cause a spectrum of rare congenital myopathies associated with intracellular calcium dysregulation. Glutathione redox imbalance has been reported in several Ryr1 disease model systems and clinical studies. NAD

methodsUsing a new colorimetric assay and large control dataset (n = 299), we assessed redox balance (glutathione, NAD

resultsAt baseline, a majority of affected individuals exhibited systemic NAD

conclusionsNAD

Indexed as

Muscular DiseasesNADRyanodine Receptor Calcium Release ChannelAdolescentAdultAnimalsCells, CulturedFemaleGlutathioneHomeostasisHumansMaleMiceMiddle AgedMuscle Fibers, SkeletalMuscle, SkeletalGlutathioneNADNADPNiacinamidenicotinamide-beta-ribosidePyridinium CompoundsRyanodine Receptor Calcium Release ChannelRYR1 protein, humanCongenital myopathyGlutathioneNAD+NADPOxidative stressRYR1

Identifiers

PMID40846977
PMCPMC12374369

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.