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Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations

Genetics in Medicine(2024)10.1016/j.gim.2024.101349Source: DataRank Database

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations is a research paper published in Genetics in Medicine (2024). On theSindex it has a DataRank of 0. It has been cited 12 times.

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Open Access12 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (14 grants)Impact (FWCI 2.20)OA: greenTopics (44)IDs (PubMed, PMC, OpenAlex)Annotations (4)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 (7)

Amy Tam ORCID,Silja Richter ORCID,Vicente Quiroz ORCID,Luca Schierbaum ORCID,Afshin Saffari ORCID

Live enrichment

PubMed:39731469 PMC:PMC11890929 OpenAlex:https://openalex.org/W4405751059

National Institute of Neurological Disorders and Stroke

Grant: 1K08NS123552-01

California Department of Fish and Game

Grant: SA 4171/1-1

California Department of Fish and Game

Grant: 536105452

Deutsche Forschungsgemeinschaft

Grant: 270949263/GRK2162

National Institutes of Health

Grant: P50 HD105351

National Institutes of Health

Grant: P00033016

NINDS NIH HHS

Grant: K08 NS123552

International Parkinson and Movement Disorder Society

European Academy of Neurology

Apellis Pharmaceuticals

Manton Center for Orphan Disease Research, Boston Children's Hospital

Studienstiftung des Deutschen Volkes

Spastic Paraplegia Foundation

German Academic Exchange Service

FWCI

2.20

Citation Percentile

0.9%

Citation Trend

2025

2026

greenLicense: http://www.elsevier.com/open-access/userlicense/1.0/

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11890929/

publisherhttps://api.elsevier.com/content/article/PII:S1098360024002831?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360024002831?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.gim.2024.101349

Fields of Study

Hereditary Neurological DisordersGenomics and Rare DiseasesLysosomal Storage Disorders ResearchHumansCross-Sectional StudiesGenetic Association StudiesPhenotypeSpastic Paraplegia, HereditaryMaleFemaleGenotypeChildAllelesMutationAdolescent

MeSH Terms

AdolescentAllelesChildChild, PreschoolCross-Sectional StudiesFemaleGenotypeHumansMaleMutationPhenotypeSpastic Paraplegia, HereditaryGenetic Association Studies

Keywords

GenotypePhenotypeCross-sectional studyNatural historyDiseaseGenotype-phenotype distinctionMedicineGeneticsBiologyInternal medicineGenePathologyGenotype-phenotype CorrelationHereditary Spastic ParaplegiaHpdlSpg83

Sustainable Development Goals

SDG 0: Zero hunger

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations

FAIR Checklist

Authors (7)

Funding (14 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)