Evidence map›Paper›PMID 39336735›Full record

ArticleGenes2024

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.

Ani Taneva, David Gresham, Velina Guergueltcheva, Teodora Chamova, Veneta Bojinova, Mariana Gospodinova, Maria Katzarova, Radoslav Petkov, Thomas Voit, Lidia Aneva and 8 more

Abstract read
In one paragraph

Article in Genes, 2024. 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
–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

2 citing papers in PubMed.

  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

18 authors.

Ani TanevaDepartment of Neurology, University Hospital "Alexandrovska", Medical University Sofia, 1431 Sofia, Bulgaria.
David GreshamCenter for Genomics and Systems Biology, Department of Biology, New York University, New York, NY 10012, USA.
Velina GuergueltchevaDepartment of Neurology, University Hospital Sofiamed, 1797 Sofia, Bulgaria.
Teodora ChamovaDepartment of Neurology, University Hospital "Alexandrovska", Medical University Sofia, 1431 Sofia, Bulgaria.ORCID 0000-0001-5142-5007
Veneta BojinovaClinic of Child Neurology, University Hospital of Neurology and Psychiatry "St' Naum", 1113 Sofia, Bulgaria.
Mariana GospodinovaDiagnostic and Consultative Centre, University Hospital St Ivan Rilski, 1000 Sofia, Bulgaria.
Maria KatzarovaDepartment of Orthopedy, USBALO "Prof. B. Boychev", Medical University Sofia, 1431 Sofia, Bulgaria.
Radoslav PetkovDepartment of Neurology, University Hospital Sofiamed, 1797 Sofia, Bulgaria.
Thomas VoitNational Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Lidia AnevaClinical Laboratory, Regional Hospital-Blagoevgrad, 2700 Blagoevgrad, Bulgaria.
Ognyan AsenovDepartment of Neurology, University Hospital "Alexandrovska", Medical University Sofia, 1431 Sofia, Bulgaria.
Bilyana GeorgievaDepartment of Medical Chemistry and Biochemistry, Medical University of Sofia, 1431 Sofia, Bulgaria.
Violeta MihaylovaNeurocenter, Kantonal Hospital Lucerne, 6000 Lucerne, Switzerland.ORCID 0000-0002-7421-7179
Stoyan BichevNational Genetics Laboratory, University Hospital of Obstetrics and Gynecology-"Maichin Dom", 1431 Sofia, Bulgaria.
Tihomir TodorovGenetic Medico-Diagnostic Laboratory Genica, 1612 Sofia, Bulgaria.
Albena TodorovaDepartment of Medical Chemistry and Biochemistry, Medical University of Sofia, 1431 Sofia, Bulgaria.
Luba KalaydjievaCentre for Medical Research, Harry Perkins Institute of Medical Research, The University of Western Australia, Perth 6009, Australia.
Ivailo TournevDepartment of Neurology, University Hospital "Alexandrovska", Medical University Sofia, 1431 Sofia, Bulgaria.

Funding

Bulgarian National Science Fund, project B02/240, and European Union-NextGeneration EU, through the National Recovery and Resilience Plan of the Republic of Bulgaria, project No BG-RRP-2.004-0004-C01. project No BG-RRP-2.004-0004-C01.
6 · The paper itself

Abstract

Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the

Indexed as

Muscular Dystrophies, Limb-GirdlePhenotypeAdolescentAdultBulgariaChildChild, PreschoolFemaleHumansMaleMiddle AgedMuscle, SkeletalPedigreeRomani PeopleSarcoglycansYoung AdultSarcoglycansBulgarian Muslim Romagamma-sarcoglycanopathyLGMD 2C/R5

Identifiers

PMID39336735
PMCPMC11431404

What OpenQuestion holds

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Registered trials

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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.