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Novel presentations associated with a PDHA1 variant – Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother

European Journal of Paediatric Neurology(2021)10.1016/j.ejpn.2021.01.006Source: DataRank Database

Novel presentations associated with a PDHA1 variant – Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother is a research paper published in European Journal of Paediatric Neurology (2021). On theSindex it has a DataRank of 0. It has been cited 4 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access4 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (2 grants)Impact (FWCI 0.30)OA: greenTopics (50)IDs (PubMed, PMC, OpenAlex)SDGs (2)

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 (4)

George Grahame,Jirair K. Bedoyan ORCID,Andrea Gropman ORCID,Kuntal Sen ORCID

Live enrichment

PubMed:33592356 PMC:PMC9745742 OpenAlex:https://openalex.org/W3123877100

National Institutes of Health

Grant: 2U54NS078059-09

The North American Mitochondrial Disease Consortium (NAMDC)

NINDS NIH HHS

Grant: U54 NS078059

FWCI

0.30

Citation Percentile

0.5%

Citation Trend

2023

2024

greenLicense: Elsevier TDM

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9745742

publisherhttps://api.elsevier.com/content/article/PII:S1090379821000064?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1090379821000064?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.ejpn.2021.01.006

Fields of Study

Mitochondrial Function and PathologyMetabolism and Genetic DisordersIon Transport and Channel Regulation0301 basic medicine03 medical and health sciences0302 clinical medicine

MeSH Terms

AdultChild, PreschoolFemaleHemiplegiaHeterozygoteHumansMaleMothersParaplegiaPedigreePhenotypePyruvate Dehydrogenase Complex Deficiency DiseaseGuillain-Barre SyndromePyruvate Dehydrogenase (Lipoamide)Hemizygote

Keywords

MedicineProbandLactic acidosisGuillain-Barre syndromeAtaxiaFlaccid paralysisPediatricsEncephalopathyParalysisEndocrinologyInternal medicineGeneticsMutationBiologySurgeryAdultHemizygoteMaleParaplegiaHeterozygoteMothersHemiplegiaPedigreePhenotypeChild, PreschoolHumansFemalePyruvate Dehydrogenase (Lipoamide)Pyruvate Dehydrogenase Complex Deficiency Disease

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being