Evidence map›Paper›PMID 41776713›Full record

ArticleBrain pathology (Zurich, Switzerland)2026

A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies.

Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff and 8 more

Abstract read
In one paragraph

Article in Brain pathology (Zurich, Switzerland), 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. 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

18 authors.

Marc PauperCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Heike KölbelDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen, Essen, Germany.
Iakowos KarakesisoglouDepartment of Biosciences, Durham University, Durham, UK.
Anne SchänzerInstitute of Neuropathology, Justus Liebig University Giessen, Giessen, Germany.ORCID https://orcid.org/0000-0002-2014-2028
Johann BöhmInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, CNRS UMR7104, Université de Strasbourg, Illkirch, France.ORCID https://orcid.org/0000-0001-8019-9504
Rachel ThompsonChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.ORCID https://orcid.org/0000-0002-6889-0121
Nicolai KohlschmidtInstitute of Clinical Genetics and Tumour Genetics Bonn, Bonn, Germany.
Bernd RingelDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen, Essen, Germany.
Gisèle BonneSorbonne University, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
Katja NeuhoffDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen, Essen, Germany.
Andrea GangfußDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen, Essen, Germany.ORCID https://orcid.org/0000-0002-9975-0092
Ozge Aksel KilicarslanChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Sergi Beltran AgulloCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Andreas HentschelLeibniz-Institut für Analytische Wissenschaften-ISAS-e.V, Dortmund, Germany.
Ulrike Schara-SchmidtDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen, Essen, Germany.
Hanns LochmüllerCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID https://orcid.org/0000-0003-2324-8001
Kiran PolavarapuChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Andreas RoosDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen, Essen, Germany.

Funding

Canada Foundation for Innovation CFI-JELF 38412Canada Research Chair in Neuromuscular Genomics and Health 950-232279CIHR FDN-167281Deutsche Gesellschaft für MuskelkrankeEuropean Research Fund for Regional Development NMD-GPSEuropean Union's Horizon 2020 956148Ministerium für Kultur und Wissenschaft des Landes Nordrhein-WestfalenMinistry of Science, Innovation and Universities, and Generalitat de Catalunya
6 · The paper itself

Abstract

Proteomics-guided exome re-analysis identifies bi-allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.

Indexed as

Membrane ProteinsMuscular DystrophiesNuclear EnvelopeNuclear ProteinsAllelesGenotypeHumansProteomicsMembrane ProteinsNuclear Proteinsmuscle proteomicsmuscular dystrophyNMD‐GPSnuclear envelopeproteogenomics

Identifiers

PMID41776713
PMCPMC13239970

What Socratic 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 Socratic graph.