Evidence map›Paper›PMID 40156242›Full record

ArticleJournal of neuromuscular diseases2025

Signs and symptoms of carriers of non-

Job Simons, Amanda Dekker, Rosanne Govaarts, Anna Sarkozy, Christian Windpassinger, Saskia Houwen, Nicol Voermans

Abstract readScoping Review
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

7 authors.

Job SimonsDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0009-0000-5670-729X
Amanda DekkerDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0009-0009-6793-2906
Rosanne GovaartsDepartment of Radiology, C.J. Gorter MRI Center, Leiden University Medical Center, Leiden, The Netherlands.ORCID 0000-0002-4550-3977
Anna SarkozyDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0002-1353-0583
Christian WindpassingerDiagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria.ORCID 0000-0001-6134-0664
Saskia HouwenDepartment of Rehabilitation, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-9221-5679
Nicol VoermansDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-5837-7295

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIt has been known for long that females carrying pathogenic variants in the

objectiveThis scoping review aims to provide a comprehensive outline of existing literature regarding the signs and symptoms of carriers of non-

methodsThree electronic databases were used for the literature search (PubMed, Embase, Web of Science). Studies on the signs and symptoms of carriers of non-

resultsWe included 44 articles for this review with a total of 354 carriers of non-

conclusionCarriers of non-

Indexed as

Genetic Diseases, X-LinkedHeterozygoteMyopathies, Structural, CongenitalNeuromuscular DiseasesAdultFemaleHumansgenetic diseases, X-linkedheterozygotemyopathies, structural, congenitalneuromuscular diseasessigns and symptoms

Identifiers

PMID40156242
PMCPMC13142866

What OpenQuestion holds

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Registered trials

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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.