Evidence map›Paper›PMID 41464539›Full record

ArticleJournal of clinical medicine2025

Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.

Ozge Aksel Kilicarslan, Andrea Gangfuß, Heike Kölbel, David Muhmann, Kiran Polavarapu, Rachel Thompson, Linda-Isabell Schmitt, Lola Lessard, Lei Chen, Astrid Eisenkölbl and 4 more

Abstract read
In one paragraph

Article in Journal of clinical medicine, 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

14 authors.

Ozge Aksel KilicarslanChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0001-5315-5290
Andrea GangfußDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.ORCID 0000-0002-9975-0092
Heike KölbelDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.ORCID 0000-0001-9629-7053
David MuhmannDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.ORCID 0009-0005-3935-5428
Kiran PolavarapuChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0002-8879-6001
Rachel ThompsonChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0002-6889-0121
Linda-Isabell SchmittDepartment of Neurology, University Duisburg-Essen, 45147 Essen, Germany.
Lola LessardService Troubles du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique, Groupement Hospitalier Est, Hospices Civils de Lyon, 69500 Bron, France.ORCID 0000-0002-3141-0227
Lei ChenDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Astrid EisenkölblChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0001-5176-1262
Ulrike Schara-SchmidtDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Andreas HentschelLeibniz-Institut für Analytische Wissenschaften, ISAS, e.V., 44139 Dortmund, Germany.ORCID 0000-0002-0272-9220
Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
Andreas RoosChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.

Funding

European Regional Development Fund NMD-GPS
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

case reportfast-twitch fiber predominancehypotoniaKMT5Bmuscle denervation in neurodevelopmental disordersmuscle proteomics

Identifiers

PMID41464539
PMCPMC12733465

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.