Evidence map›Paper›PMID 32707643›Full record

ArticleGenes2020

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Olga Shchagina, Ludmila Bessonova, Igor Bychkov, Tatiana Beskorovainaya, Aleksander Poliakov

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 40% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. 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

5 authors at 1 institution in 1 country.

Olga ShchaginaResearch Centre for Medical Genetics 1 Moskvorechie St., 115522 Moscow, Russia.ORCID 0000-0003-4905-1303
Ludmila BessonovaResearch Centre for Medical Genetics 1 Moskvorechie St., 115522 Moscow, Russia.
Igor BychkovResearch Centre for Medical Genetics 1 Moskvorechie St., 115522 Moscow, Russia.
Tatiana BeskorovainayaResearch Centre for Medical Genetics 1 Moskvorechie St., 115522 Moscow, Russia.
Aleksander PoliakovResearch Centre for Medical Genetics 1 Moskvorechie St., 115522 Moscow, Russia.
Research Centre for Medical Genetics · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a very rare recessive hereditary disorder. At the moment, ten CMS22 patients are described, with the disorder caused by nine different Loss-

Indexed as

GenotypeChildCodon, NonsenseHumansMaleMyasthenic Syndromes, CongenitalPedigreeProlyl OligopeptidasesRNA SplicingSiblingsUniparental DisomyCodon, NonsensePREPL protein, humanProlyl OligopeptidasesCMS22PREPLspliceogenicsplice siteuniparental disomy

Identifiers

PMID32707643
PMCPMC7397044
OpenAlexW3043445513

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.