Evidence map›Paper›PMID 39409170›Full record

ArticleInternational journal of molecular sciences2024

Challenging Diagnosis of a Patient with Two Novel Variants in the

Anna Kuchina, Aysylu Murtazina, Artem Borovikov, Dmitrii Subbotin, Sergey Bardakov, Maria Akhkiamova, Aleksandra Nikolaeva, Olga Shchagina, Sergey Kutsev

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Anna KuchinaResearch Centre for Medical Genetics, 115478 Moscow, Russia.
Aysylu MurtazinaResearch Centre for Medical Genetics, 115478 Moscow, Russia.ORCID 0000-0001-7023-7378
Artem BorovikovResearch Centre for Medical Genetics, 115478 Moscow, Russia.ORCID 0000-0001-5871-8005
Dmitrii SubbotinResearch Centre for Medical Genetics, 115478 Moscow, Russia.ORCID 0009-0007-9862-0273
Sergey BardakovDepartment of Neurology, S.M. Kirov Military Medical Academy, 194044 St. Petersburg, Russia.
Maria AkhkiamovaResearch Centre for Medical Genetics, 115478 Moscow, Russia.ORCID 0000-0002-7244-9654
Aleksandra NikolaevaResearch Centre for Medical Genetics, 115478 Moscow, Russia.
Olga ShchaginaResearch Centre for Medical Genetics, 115478 Moscow, Russia.ORCID 0000-0003-4905-1303
Sergey KutsevResearch Centre for Medical Genetics, 115478 Moscow, Russia.

Funding

Ministry of Science and Higher Education of the Russian Federation 075-15-2021-1061, RF 193021X0029
6 · The paper itself

Abstract

We report a case of

Indexed as

Cytoskeletal ProteinsNerve Tissue ProteinsNuclear ProteinsAdolescentElectromyographyExome SequencingHumansMagnetic Resonance ImagingMaleMutationPedigreePhenotypeSpinocerebellar AtaxiasCytoskeletal ProteinsNerve Tissue ProteinsNuclear ProteinsSYNE1 protein, humanataxiahyperCKemianeuropathySYNE1

Identifiers

PMID39409170
PMCPMC11476505

What OpenQuestion holds

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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.