Evidence map›Paper›PMID 36360228›Full record

ArticleGenes2022

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Aysylu Murtazina, Sergey Nikitin, Galina Rudenskaya, Inna Sharkova, Artem Borovikov, Peter Sparber, Olga Shchagina, Alena Chukhrova, Oksana Ryzhkova, Olga Shatokhina and 7 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 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.2field-weighted citation impact, top 12% 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

10 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Observational
  3. Review
  4. Article
  5. Article
  6. Review
  7. RecessiveGenes · 2024
    Article
  8. Article
  9. Review
  10. The frequent variant A57F in theFrontiers in genetics · 2024
    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

17 authors at 2 institutions in 1 country.

Aysylu MurtazinaResearch Centre for Medical Genetics, Moscow 115478, Russia.ORCID 0000-0001-7023-7378
Sergey NikitinResearch Centre for Medical Genetics, Moscow 115478, Russia.
Galina RudenskayaResearch Centre for Medical Genetics, Moscow 115478, Russia.
Inna SharkovaResearch Centre for Medical Genetics, Moscow 115478, Russia.
Artem BorovikovResearch Centre for Medical Genetics, Moscow 115478, Russia.ORCID 0000-0001-5871-8005
Peter SparberResearch Centre for Medical Genetics, Moscow 115478, Russia.ORCID 0000-0002-9160-0794
Olga ShchaginaResearch Centre for Medical Genetics, Moscow 115478, Russia.ORCID 0000-0003-4905-1303
Alena ChukhrovaResearch Centre for Medical Genetics, Moscow 115478, Russia.
Oksana RyzhkovaResearch Centre for Medical Genetics, Moscow 115478, Russia.ORCID 0000-0003-1285-9093
Olga ShatokhinaResearch Centre for Medical Genetics, Moscow 115478, Russia.ORCID 0000-0003-0351-1271
Anna OrlovaResearch Centre for Medical Genetics, Moscow 115478, Russia.ORCID 0000-0002-8831-1844
Vasilisa UdalovaLaboratory Genomed LTD, Moscow 107014, Russia.
Ilya KanivetsLaboratory Genomed LTD, Moscow 107014, Russia.
Sergey KorostelevLaboratory Genomed LTD, Moscow 107014, Russia.
Alexander PolyakovResearch Centre for Medical Genetics, Moscow 115478, Russia.
Elena DadaliResearch Centre for Medical Genetics, Moscow 115478, Russia.
Sergey KutsevResearch Centre for Medical Genetics, Moscow 115478, Russia.
Research Centre for Medical Genetics · RURussian Medical Academy of Continuous Professional Education · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the

Indexed as

Distal MyopathiesAtrophyFemaleHumansMultienzyme ComplexesMuscle, SkeletalMultienzyme Complexesatypical casesGNE myopathyhereditary inclusion body myopathyNonaka myopathy

Identifiers

PMID36360228
PMCPMC9690815
OpenAlexW4308120338

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.