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Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206Source: DataRank Database

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability is a research paper published in Human Mutation (2021). On theSindex it has a DataRank of 0. It has been cited 31 times.

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Open Access31 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (6 grants)OA: hybridTopics (51)IDs (PubMed)SDGs (1)

FAIR Checklist

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Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (50)

Barbara Brechmann ORCID,Gali Heimer ORCID,Ines Brösse,Susanna Schubert ORCID,Lauren O’Grady ORCID

Live enrichment

PubMed:33847017

NHGRI NIH HHS

Grant: UM1 HG006542

NHGRI NIH HHS

Grant: U54 HG006542

NHGRI NIH HHS

Grant: K08 HG008986

Wellcome Trust

Grant: unidentified

unidentified

National Institutes of Health

Grant: 5K08HG008986-04

Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset disease

National Institutes of Health

Grant: 5U54HG006542-03

Baylor-Johns Hopkins Center for Mendelian Genetics

Influential Citations

hybridLicense: cc-by

HYBRIDhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24206

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24206

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24206

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/humu.24206

repositoryhttp://nbn-resolving.de/urn:nbn:de:bvb:19-epub-100810-0

Fields of Study

Medicine0301 basic medicine03 medical and health sciences0303 health sciences

MeSH Terms

HumansHereditary Sensory and Autonomic NeuropathiesCarrier ProteinsNerve Tissue ProteinsMagnetic Resonance ImagingCohort StudiesCross-Sectional StudiesPedigreeFamilyProtein ConformationPhenotypeMutation, MissenseModels, MolecularAdolescentChildChild, PreschoolInfantFemaleMaleIntellectual DisabilityNeuroimaging

Keywords

Neurodevelopmental DisorderSpastic ParaplegiaHuman Phenotype OntologySensory Autonomic NeuropathyTecpr2MaleModels, MolecularTecpr2 ; Human Phenotype Ontology ; Neurodevelopmental Disorder ; Sensory Autonomic Neuropathy ; Spastic ParaplegiaAdolescentMutation, MissenseNerve Tissue ProteinsNeuroimagingCohort StudiesIntellectual DisabilityHumansFamilyHereditary Sensory and Autonomic NeuropathiesChildInfantMagnetic Resonance ImagingPedigreeCross-Sectional StudiesPhenotypeChild, PreschoolFemaleCarrier Proteins

Sustainable Development Goals

SDG 3: 3. Good health

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

FAIR Checklist

Authors (50)

Funding (6 grants)

Impact

Open Access

Topics