Evidence map›Paper›PMID 33363762›Full record

ArticleClinical case reports2020

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in

Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan P M de Brouwer, Paula Jorge

Abstract readCase Reports
In one paragraph

Article in Clinical case reports, 2020. 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

9 authors.

Nuno MaiaUnidade de Genética Molecular Centro de Genética Médica Jacinto de Magalhães (CGM) Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal.ORCID https://orcid.org/0000-0003-3274-2474
Ana Rita SoaresUnidade de Genética Médica Centro de Genética Médica Jacinto de Magalhães (CGM) Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal.ORCID https://orcid.org/0000-0001-7817-9889
Ana Maria FortunaUnidade Multidisciplinar de Investigação Biomédica (UMIB) Instituto de Ciências Biomédicas Abel Salazar (ICBAS) Universidade do Porto Porto Portugal.ORCID https://orcid.org/0000-0002-1296-5366
Isabel MarquesUnidade de Genética Molecular Centro de Genética Médica Jacinto de Magalhães (CGM) Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal.ORCID https://orcid.org/0000-0002-3561-1288
Ana GonçalvesUnidade de Genética Molecular Centro de Genética Médica Jacinto de Magalhães (CGM) Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal.ORCID https://orcid.org/0000-0002-3917-2323
Rosário SantosUnidade de Genética Molecular Centro de Genética Médica Jacinto de Magalhães (CGM) Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal.ORCID https://orcid.org/0000-0002-8594-6377
Manuel Melo PiresServiço de Neuropatologia Centro Hospitalar e Universitário do Porto (CHUP) Porto Portugal.ORCID https://orcid.org/0000-0002-0046-6455
Arjan P M de BrouwerDepartment of Human Genetics Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen Nijmegen The Netherlands.ORCID https://orcid.org/0000-0002-2131-0484
Paula JorgeUnidade de Genética Molecular Centro de Genética Médica Jacinto de Magalhães (CGM) Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal.ORCID https://orcid.org/0000-0002-6507-222X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in

Indexed as

homozygosity mappingMYO7ANEBNebulin‐associated myopathyUsher syndrome

Identifiers

PMID33363762
PMCPMC7752365

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.