Evidence map›Paper›PMID 40645757›Full record

ArticleJournal of neurology, neurosurgery, and psychiatry2026

CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.

Alessandro Bertini, Stefano Facchini, Ilaria Quartesan, Riccardo Currò, Ricardo Parolin Schnekenberg, Natalia Dominik, Gustavo Alves, Lucia Ferullo, Arianna Tucci, Henry Houlden and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neurology, neurosurgery, and psychiatry, 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. Neurology. Genetics · 2026
    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

12 authors.

Alessandro BertiniDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Stefano FacchiniDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Ilaria QuartesanDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Riccardo CurròDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-5622-0550
Ricardo Parolin SchnekenbergDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Natalia DominikDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Gustavo AlvesDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Lucia FerulloDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Arianna TucciWilliam Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-2866-7777
Mary M ReillyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0003-0686-905X
Andrea CorteseDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK andrea.cortese@ucl.ac.uk.ORCID http://orcid.org/0000-0002-2208-5311

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCGG expansions in

methodsHere, we leveraged short-read whole genome sequencing data from the 100 000 Genomes Project to investigate the presence and frequency of CGG expansions in

resultsRepeat expansions in

conclusionsCGG expansions in

Indexed as

Charcot-Marie-Tooth DiseaseTrinucleotide Repeat ExpansionAdultAsian PeopleFemaleHumansIntercellular Signaling Peptides and ProteinsLDL-Receptor Related ProteinsMaleNerve Tissue ProteinsWhole Genome SequencingIntercellular Signaling Peptides and ProteinsLDL-Receptor Related ProteinsNerve Tissue ProteinsNOTCH2NLC protein, humanNEUROGENETICSNEUROMUSCULARNEUROPATHY

Identifiers

PMID40645757
PMCPMC13217079

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.