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Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Brain(2023)10.1093/brain/awad312Source: DataRank Database

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy is a research paper published in Brain (2023). On theSindex it has a DataRank of 0. It has been cited 16 times.

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Open Access16 citations

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Enrichment:Funding (6 grants)Impact (FWCI 1.50)OA: hybridTopics (52)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 (23)

Russell J. Butterfield ORCID,Patrick J. van der Vliet,Jan De Bleecker ORCID,Ludo van der Pol,Diane M. Dunn

Live enrichment

PubMed:37703328 PMC:PMC10834250 OpenAlex:https://openalex.org/W4386694118

National Institutes of Health

Grant: P50 HD060848

Medical Research Council UK

Grant: MR/S005021/1

MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases

NIAMS NIH HHS

Grant: R01 AR066248

National Institute for Health Research (NIHR)

Grant: NIHR205088

National Institutes of Health

Grant: 5P50HD060848-16

Novel Therapeutics for FSHD

FSHD Society

FWCI

1.50

Citation Percentile

0.8%

Citation Trend

2023

2024

2025

2026

hybridLicense: cc-by-nc

journalhttps://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad312/51544425/awad312.pdf

publisherhttps://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad312/51544425/awad312.pdf

publisherhttps://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad312/56141982/awad312.pdf

publisherhttps://academic.oup.com/brain/article-pdf/147/2/414/56542982/awad312.pdf

journalhttps://doi.org/10.1093/brain/awad312

Fields of Study

Muscle Physiology and DisordersCardiomyopathy and Myosin StudiesNeurogenetic and Muscular Disorders Research03 medical and health sciences0303 health sciencesHumansMuscular Dystrophy, FacioscapulohumeralAllelesChromosomal Proteins, Non-HistoneHomeodomain ProteinsChromatinFacioscapulohumeral Muscular Dystrophy 1B

MeSH Terms

AllelesChromatinChromosomal Proteins, Non-HistoneHumansHomeodomain ProteinsMuscular Dystrophy, Facioscapulohumeral

Keywords

Facioscapulohumeral muscular dystrophyGeneticsGene duplicationBiologyChromatinAllelePopulationMuscular dystrophyMedicineGeneDuplicationsFshdDux4D4z4PENETRANCEHYPOMETHYLATIONChromosomal Proteins, Non-HistoneDIAGNOSISSEQUENCEMedicine and Health SciencesLOCUSHumansAllelesHomeodomain ProteinsNeurology - Radboud University Medical Center - DCMNMUTATIONSREARRANGEMENTSBiology and Life SciencesNeurology - Radboud University Medical CenterPaediatrics - Radboud University Medical Center - DCMNMUSCULAR-DYSTROPHYMuscular Dystrophy, FacioscapulohumeralOriginal ArticleDUX4 EXPRESSION

Sustainable Development Goals

SDG 0: Good health and well-being

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

FAIR Checklist

Authors (23)

Funding (6 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)