Evidence map›Paper›PMID 35627144›Full record

ArticleGenes2022

Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.

Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha, Monica Machado Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes Neves, Rafael Xavier-Neto and 4 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. 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
0.6field-weighted citation impact, top 37% of its field
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, 7 citations in OpenAlex.

  1. Article
  2. 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

14 authors at 2 institutions in 1 country.

Ana CottaThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.ORCID 0000-0003-2931-6589
Lucas Santos SouzaHuman Genome and Stem Cells Research Center, Genetics and Evolutionary Biology, IBUSP, University of São Paulo, R. do Matao, 106, Cidade Universitária, Sao Paulo 05508-900, SP, Brazil.
Elmano CarvalhoThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Leticia Nogueira FeitosaHuman Genome and Stem Cells Research Center, Genetics and Evolutionary Biology, IBUSP, University of São Paulo, R. do Matao, 106, Cidade Universitária, Sao Paulo 05508-900, SP, Brazil.
Antonio CunhaThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Monica Machado NavarroThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Jaquelin ValicekThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Miriam Melo MenezesThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Simone Vilela Nunes NevesThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Rafael Xavier-NetoThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Antonio Pedro VargasThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Reinaldo Issao TakataThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Julia Filardi PaimThe SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Mariz VainzofHuman Genome and Stem Cells Research Center, Genetics and Evolutionary Biology, IBUSP, University of São Paulo, R. do Matao, 106, Cidade Universitária, Sao Paulo 05508-900, SP, Brazil.ORCID 0000-0002-2797-0782
Sarah Network of Rehabilitation Hospitals · BRUniversidade de São Paulo · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe neonatal or mild adult forms. Here we report clinical and molecular data on a large cohort of Brazilian CCD patients, including a retrospective clinical analysis and molecular screening for

Indexed as

Myopathy, Central CoreNeuroblastomaHigh-Throughput Nucleotide SequencingHumansPedigreeRetrospective StudiesRyanodine Receptor Calcium Release ChannelRyanodine Receptor Calcium Release Channelcentral core diseaseclinical heterogeneityelectromyographyRYR1

Identifiers

PMID35627144
PMCPMC9141459
OpenAlexW4224979579

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.