Evidence map›Paper›PMID 39408683›Full record

ArticleInternational journal of molecular sciences2024

Molecular Study of the Fukutin-Related Protein (

Antonio Qualtieri, Selene De Benedittis, Annamaria Cerantonio, Luigi Citrigno, Gemma Di Palma, Olivier Gallo, Francesca Cavalcanti, Patrizia Spadafora

Abstract read
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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

8 authors.

Antonio QualtieriInstitute for Biomedical Research and Innovation, National Research Council, 87050 Mangone, Italy.
Selene De BenedittisInstitute for Biomedical Research and Innovation, National Research Council, 87050 Mangone, Italy.ORCID 0000-0001-6340-8888
Annamaria CerantonioInstitute for Biomedical Research and Innovation, National Research Council, 87050 Mangone, Italy.
Luigi CitrignoInstitute for Biomedical Research and Innovation, National Research Council, 87050 Mangone, Italy.ORCID 0000-0001-7410-7781
Gemma Di PalmaInstitute for Biomedical Research and Innovation, National Research Council, 87050 Mangone, Italy.
Olivier GalloInstitute for Biomedical Research and Innovation, National Research Council, 87050 Mangone, Italy.
Francesca CavalcantiInstitute for Biomedical Research and Innovation, National Research Council, 87050 Mangone, Italy.ORCID 0000-0001-5769-4582
Patrizia SpadaforaInstitute for Biomedical Research and Innovation, National Research Council, 87050 Mangone, Italy.ORCID 0000-0001-5890-4561

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants localized in the gene coding for the Fukutin-Related Protein (FKRP) are responsible for Limb-Girdle Muscular Dystrophy type 9 (LGMDR9), Congenital Muscular Dystrophies type 1C (MDC1C), Walker-Warburg Syndrome (WWS), and Muscle-Eye-Brain diseases (MEBs). LGMDR9 is the fourth most common hereditary Limb Girdle Muscular Dystrophy in Italy. LGMDR9 patients with severe disease show an overlapping Duchenne/Becker phenotype and may have secondary dystrophin reduction on muscle biopsy. We conducted a molecular analysis of the

Indexed as

Muscular Dystrophy, DuchenneMutationPentosyltransferasesPhenotypeAdolescentAdultAgedAged, 80 and overChildChild, PreschoolFemaleHumansItalyMaleMiddle AgedProteinsFKRP protein, humanPentosyltransferasesProteinsFKRPLGMD2ILGMDR9limb girdle muscular dystrophy type R9molecular dynamic

Identifiers

PMID39408683
PMCPMC11476872

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.