Pilot corpus: NIH-funded biomedical datasets. Any DOI can be scored on demand — network effects sharpen as coverage grows.

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

Movement Disorders(2025)10.1002/mds.30326Source: DataRank Database

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance is a research paper published in Movement Disorders (2025). On theSindex it has a DataRank of 0.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access0 citations

Download PDF

Cite:

Linked data & code

omim

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (8 grants)Impact (FWCI 0.00)OA: hybridTopics (47)IDs (PubMed, PMC, OpenAlex)Annotations (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)

FAIR checklist signals are shown for context only and do not affect DataRank scoring.

Run a calibrated FAIR evaluation for this paper →

We only score data papers we can read in full — never from an abstract alone.

Authors (14)

Pilar Álvarez Jerez ORCID,Ulviyya Guliyeva ORCID,Jasmine Lee ORCID,Laksh Malik ORCID,Breeana Baker

Live enrichment

PubMed:40751262 PMC:PMC12661629 OpenAlex:https://openalex.org/W4412849006

Wellcome Trust

Grant: 093205

Intramural NIH HHS

Grant: ZIA AG000534

Intramural NIH HHS

Grant: ZIA AG000949

Wellcome Trust

Grant: WT093205

Wellcome Trust

Grant: 104033

Intramural Research Program of the NIH

Grant: ZO1 AG000535

Wellcome Trust

FWCI

0.00

Citation Percentile

0.3%

hybridLicense: cc-by

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.30326

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.30326

publisherhttps://movementdisorders.onlinelibrary.wiley.com/doi/pdf/10.1002/mds.30326

journalhttps://doi.org/10.1002/mds.30326

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40751262

Fields of Study

Glycogen Storage Diseases and MyoclonusGenomics and Rare DiseasesGenetic Neurodegenerative DiseasesAdultChildFemaleHumansMaleMiddle AgedMyoclonic Epilepsies, ProgressivePedigreePenetranceTrinucleotide Repeat ExpansionYoung Adult

MeSH Terms

AdultChildFemaleHumansMaleMiddle AgedPedigreeTrinucleotide Repeat ExpansionPenetranceMyoclonic Epilepsies, ProgressiveYoung Adult

Keywords

Progressive myoclonus epilepsyEpilepsyMyoclonic JerkPenetranceProbandTrinucleotide repeat expansionGeneticsMyoclonusCopy-number variationGeneralized epilepsyExome sequencingBiologyAlleleMedicineMutationNeurosciencePhenotypeGenomeshort tandem repeatsIncomplete PenetranceCsnk1eProgressive Myoclonic Epilepsy