Evidence map›Paper›PMID 40565533›Full record

ArticleGenes2025

Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.

Teodora Chamova, Tihomir Todorov, Paulius Palaima, Petya Yankova, Iliyana Pacheva, Ivan Ivanov, Bilyana Georgieva, Sylvia Cherninkova, Alexey Savov, Dora Zlatareva and 4 more

Abstract read
In one paragraph

Article in Genes, 2025. 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. Radiation-induced brachial plexopathy in a patient withReports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2026
    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.

Teodora ChamovaDepartment of Neurology, University Hospital "Alexandrovska", Medical University, 1431 Sofia, Bulgaria.ORCID 0000-0001-5142-5007
Tihomir TodorovGenetic Medico-Diagnostic Laboratory "Genica", 1431 Sofia, Bulgaria.
Paulius PalaimaMolecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium.
Petya YankovaDepartment of Clinical Immunology, University Hospital "Alexandrovska", Medical University, 1431 Sofia, Bulgaria.
Iliyana PachevaDepartment of Pediatrics, University Hospital "St George", 4000 Plovdiv, Bulgaria.ORCID 0000-0003-0461-9065
Ivan IvanovDepartment of Pediatrics, University Hospital "St George", 4000 Plovdiv, Bulgaria.ORCID 0000-0001-5041-332X
Bilyana GeorgievaDepartment of Medical Chemistry and Biochemistry, Medical University, 1431 Sofia, Bulgaria.
Sylvia CherninkovaDepartment of Neurology, University Hospital "Alexandrovska", Medical University, 1431 Sofia, Bulgaria.
Alexey SavovNational Genetic Laboratory, Department of Obstetrics and Gynecology, Faculty of Medicine, Medical University, 1431 Sofia, Bulgaria.
Dora ZlatarevaDepartment of Diagnostic Imaging, University Hospital "Alexandrovska", Medical University, 1431 Sofia, Bulgaria.
Elisaveta NaumovaDepartment of Clinical Immunology, University Hospital "Alexandrovska", Medical University, 1431 Sofia, Bulgaria.
Albena TodorovaGenetic Medico-Diagnostic Laboratory "Genica", 1431 Sofia, Bulgaria.
Albena JordanovaMolecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium.ORCID 0000-0002-3833-3754
Ivailo TournevDepartment of Neurology, University Hospital "Alexandrovska", Medical University, 1431 Sofia, Bulgaria.

Funding

National Recovery and Resilience Plan of the Republic of Bulgaria project № BG-RRP-2.004-0004-C01.
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Ataxia TelangiectasiaAtaxia Telangiectasia Mutated ProteinsDystoniaTremorAdolescentAdultBulgariaChildChild, PreschoolExome SequencingFemaleHumansInfantMaleMutationPedigreeAtaxia Telangiectasia Mutated ProteinsATM protein, humanATM geneBulgarian Muslimstremor–dystoniaWES

Identifiers

PMID40565533
PMCPMC12192268

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.