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A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits

Journal of Neuroscience Research(2025)10.1002/jnr.70040Source: DataRank Database

A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits is a research paper published in Journal of Neuroscience Research (2025). On theSindex it has a DataRank of 0. It has been cited 2 times.

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Open Access2 citations

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Enrichment:Funding (3 grants)Impact (FWCI 1.12)OA: greenTopics (40)IDs (PubMed, PMC, OpenAlex)Annotations (1)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 (5)

Carson Zabel,Sabine Grønborg ORCID,Qian Shi ORCID,Manzoor A. Bhat ORCID,Lacey B. Sell

Live enrichment

PubMed:40265789 PMC:PMC12037115 OpenAlex:https://openalex.org/W4409698984

National Institutes of Health

Grant: R01GM063074

National Multiple Sclerosis Society

Grant: RG‐2001‐36023

National Multiple Sclerosis Society

Grant: RG-2001-36023

FWCI

1.12

Citation Percentile

0.7%

Citation Trend

2026

greenLicense: http://creativecommons.org/licenses/by-nc-nd/4.0/

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12037115/

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/jnr.70040

journalhttps://doi.org/10.1002/jnr.70040

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40265789

Fields of Study

Hereditary Neurological DisordersRNA Research and SplicingRNA regulation and diseaseAnimalsChildHumansMiceAxonsCharcot-Marie-Tooth DiseaseContactin 1MutationCell Adhesion Molecules, Neuronal

MeSH Terms

AnimalsAxonsCharcot-Marie-Tooth DiseaseChildFemaleHumansMaleMutationCell Adhesion Molecules, NeuronalMiceContactin 1

Keywords

Null alleleBiologyAlleleMutationLoss functionGeneticsMutantGene knockinPhenotypeGeneGlycineNeuroscienceAmino acidNeurological DiseasesHypomyelinationCongenital Hypomyelinating Neuropathy Type 3Human Cntnap1 Variant

Sustainable Development Goals

SDG 0: Good health and well-being

A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits

FAIR Checklist

Authors (5)

Funding (3 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)