Evidence map›Paper›PMID 40560134›Full record

ArticleJournal of neuromuscular diseases2025

Expanding the spectrum of

Anthony Maino, Marie Chevallier, Diane Giovannini, Mandy Leger, Anne-Laure Coston, Nathalie Roux-Buisson, Hervé Testard, Julien Thevenon, Isabelle Marty, Julien Fauré and 2 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Anthony MainoUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France.
Marie ChevallierNeonatology Unit, Grenoble University Hospital, F-38000 Grenoble, France.
Diane GiovanniniDepartment of Pathology and Cytology, Grenoble-Alpes University Hospital, Grenoble, France.
Mandy LegerUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France.
Anne-Laure CostonDepartment of Gynecology and Obstetrics, University Hospital Grenoble Alpes, 38700, La Tronche, France.
Nathalie Roux-BuissonUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France.
Hervé TestardCentre de Compétence des Maladies Neuromusculaires PACARARE, Neuropédiatrie, Clinique Universitaire Pédiatrique, Hôpital Couple Enfant - CHU Grenoble, Grenoble, France.
Julien ThevenonGenetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.
Isabelle MartyUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France.
Julien FauréUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France.
Klaus DieterichGenetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.
John RenduUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The

Indexed as

Loss of Function MutationMuscle HypotoniaFemaleHomozygoteHumansInfant, NewbornMalePedigreePregnancyloss of functionmuscle hypotoniamuscular diseasesrecessiveTNNC2

Identifiers

PMID40560134
PMCPMC13142823

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.