Evidence map›Paper›PMID 39315390›Full record

ArticleBMJ neurology open2024

Personalised penetrance estimation for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia.

Andrew G L Douglas, Alexander G Thompson, Martin R Turner, Kevin Talbot

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ neurology open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Review
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

4 authors.

Andrew G L DouglasOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.ORCID 0000-0001-5154-6714
Alexander G ThompsonNuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.ORCID 0000-0003-1063-3277
Martin R TurnerNuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.ORCID 0000-0003-0267-3180
Kevin TalbotNuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.ORCID 0000-0001-5490-1697

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Methods: Published aggregated age-of-onset data for Results: This method allows family-specific penetrance to be estimated from family history and at-risk relatives' personalised age-related ALS/FTD risks to be calculated and illustrated graphically. Penetrance reduces as the number and age of at-risk unaffected relatives increases. Conclusions: Family history remains the best indicator of penetrance in

Indexed as

FRONTOTEMPORAL DEMENTIAMOTOR NEURON DISEASENEUROGENETICS

Identifiers

PMID39315390
PMCPMC11418571

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.