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A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia

Human Molecular Genetics(2022)10.1093/hmg/ddac276Source: DataRank Database

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia is a research paper published in Human Molecular Genetics (2022). On theSindex it has a DataRank of 0. It has been cited 2 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access2 citations

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Linked data & code

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)Impact (FWCI 0.08)OA: hybridTopics (53)IDs (PubMed, PMC, OpenAlex)Annotations (2)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 (11)

Magdalena Krygier ORCID,Natalia A. Szulc ORCID,Karolina Rutkowska ORCID,Joanna Kosińska ORCID,Agnieszka Pollak ORCID

Live enrichment

PubMed:36336956 PMC:PMC10026218 OpenAlex:https://openalex.org/W4308365539

National Science Centre

Grant: 2021/41/N/NZ1/03473

National Science Centre

Grant: 2019/34/H/NZ3/00691

NIH HHS

Grant: P40 OD010440

National Institutes of Health

Grant: 1P40OD010440-01

Caenorhabditis Genetics Center

FWCI

0.08

Citation Percentile

0.4%

Citation Trend

2024

2026

hybridLicense: cc-by

journalhttps://academic.oup.com/hmg/article-pdf/32/7/1152/49562289/ddac276.pdf

publisherhttps://academic.oup.com/hmg/article-pdf/32/7/1152/49562289/ddac276.pdf

publisherhttps://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac276/47765278/ddac276.pdf

publisherhttps://academic.oup.com/hmg/article-pdf/32/7/1152/53587611/ddac276.pdf

journalhttps://doi.org/10.1093/hmg/ddac276

Fields of Study

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental DisordersGenetic Neurodegenerative Diseases0301 basic medicine0303 health sciences03 medical and health sciencesAnimalsHumansChildProteasome Endopeptidase ComplexCullin ProteinsAcetylcholinesteraseSpeechUbiquitin-Protein LigasesNeurodevelopmental DisordersUbiquitinCaenorhabditis elegansAtaxiaUbiquitin-Protein Ligase Complexes

MeSH Terms

AcetylcholinesteraseAnimalsAtaxiaChildHumansSpeechCaenorhabditis elegansUbiquitinUbiquitin-Protein Ligase ComplexesUbiquitin-Protein LigasesCullin ProteinsProteasome Endopeptidase ComplexNeurodevelopmental Disorders

Keywords

BiologyCullinGeneticsUbiquitin ligaseUbiquitinMutationMissense mutationGeneProteasome Endopeptidase ComplexUbiquitin-Protein LigasesUbiquitin-Protein Ligase ComplexesCullin ProteinsNeurodevelopmental DisordersAcetylcholinesteraseAnimalsHumansSpeechOriginal ArticleAtaxiaChildCaenorhabditis elegans

Sustainable Development Goals

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

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia

FAIR Checklist

Authors (11)

Funding (4 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)