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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain Communications(2023)10.1093/braincomms/fcad222Source: DataRank Database

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies is a research paper published in Brain Communications (2023). On theSindex it has a DataRank of 0. It has been cited 6 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access6 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (12 grants)Impact (FWCI 1.31)OA: goldTopics (21)IDs (PubMed, PMC, OpenAlex)Annotations (2)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 (46)

Maha S. Zaki ORCID,Mohammed Al‐Owain,Mansour Y. Otaif,Adam Jackson ORCID,Emanuela Argilli ORCID

Live enrichment

PubMed:37794925 PMC:PMC10546953 OpenAlex:https://openalex.org/W4385953449

Medical Research Council

Grant: MR/S01165X/1

Medical Research Council

Grant: MR/S005021/1

Medical Research Council

Grant: G0601943

Wellcome Trust

Grant: FC001187

National Institute for Health Research (NIHR)

Grant: NIHR205088

National Institute for Health Research (NIHR)

Grant: ACF-2022-06-011

National Institute for Health Research (NIHR)

Grant: NIHR203308

Wellcome Trust

Grant: 221951

NIHR Oxford Biomedical Research Centre

Cancer Research UK

National Health Service of England

National Institute for Health Research (NIHR)

FWCI

1.31

Citation Percentile

0.8%

Citation Trend

2023

2024

2025

goldLicense: cc-by

journalhttps://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcad222/51119555/fcad222.pdf

publisherhttps://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcad222/51119555/fcad222.pdf

publisherhttps://academic.oup.com/braincomms/article-pdf/5/5/fcad222/51838562/fcad222.pdf

journalhttps://doi.org/10.1093/braincomms/fcad222

repositoryhttps://pubmed.ncbi.nlm.nih.gov/37794925

Fields of Study

Genetic and Kidney Cyst DiseasesCellular transport and secretionMitochondrial Function and Pathology

Keywords

Corpus callosumEpilepsyCerebellar hypoplasia (non-human)NeuroscienceAtrophyPathologyExome sequencingBiologyPhenotypeCerebellumMedicineGeneticsGeneSubstantia nigraEndoplasmic reticulumCorpus Callosum HypoplasiaLnpkEar-Of-The-Lynx Sign

Sustainable Development Goals

SDG 0: Good health and well-being