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Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.52225Source: DataRank Database

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants is a research paper published in Annals of Clinical and Translational Neurology (2025). On theSindex it has a DataRank of 0. It has been cited 3 times.

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0DataRank · unranked

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Open Access3 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (27 grants)Impact (FWCI 2.39)OA: goldTopics (44)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (29)

Dimah Saade ORCID,Pinki Munot ORCID,Chamindra G. Laverty ORCID,Hailey Pinz,Yaqun Zou ORCID

Live enrichment

PubMed:39923201 PMC:PMC11920742 OpenAlex:https://openalex.org/W4407295848

Coalition to Cure Calpain 3

LGMD2D Foundation and Kurt+Peter Foundation

LGMD2I Research Fund

Limb Girdle Muscular Dystrophy 2i Research Fund

Muscular Dystrophy UK

Sanofi

NIH

National Institutes of Health

NIHR Newcastle Biomedical Research Centre (BRC)

NINDS NIH HHS

Samantha J. Brazzo Foundation

Intramural funds from the NIH National Institute of Neurological Disorders and Stroke

National Institute of Neurological Disorders and Stroke

Genzyme

Ultragenyx Pharmaceutical

Coalition to Cure Calpain 3

Genzyme

Sanofi

NINDS NIH HHS

LGMD2I Research Fund

LGMD2D Foundation and Kurt+Peter Foundation

Muscular Dystrophy UK

NIH

NIHR Newcastle Biomedical Research Centre (BRC)

Samantha J. Brazzo Foundation

Ultragenyx Pharmaceutical

Intramural funds from the NIH National Institute of Neurological Disorders and Stroke

FWCI

2.39

Citation Percentile

0.9%

Citation Trend

2025

goldLicense: cc-by

journalhttps://doi.org/10.1002/acn3.52225

publisherhttps://doi.org/10.1002/acn3.52225

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.52225

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39923201

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/11920742

Fields of Study

Cell Adhesion Molecules ResearchConnective tissue disorders researchTendon Structure and TreatmentAdolescentAdultChildChild, PreschoolFemaleHumansInfantMaleCollagen Type XIIEhlers-Danlos SyndromePhenotype

MeSH Terms

AdolescentAdultChildChild, PreschoolEhlers-Danlos SyndromeFemaleHumansInfantMalePedigreePhenotypeCollagen Type XII

Keywords

MedicineMuscle contractureHypotoniaMuscle weaknessExome sequencingPathologyMuscle hypertrophyCompound heterozygosityPhenotypeProximal muscle weaknessVariable ExpressionInternal medicineSurgeryMuscle biopsyGeneticsBiopsyGeneBiology

Sustainable Development Goals

SDG 0: Good health and well-being

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

FAIR Checklist

Authors (29)

Funding (27 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)