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

medRxiv(2020)10.1101/2020.10.10.20202622Source: DataRank Database

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability is a research paper published in medRxiv (2020). On theSindex it has a DataRank of 0.

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (3 grants)OA: greenTopics (44)IDs (PubMed, OpenAlex)SDGs (1)

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Authors (50)

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

Live enrichment

PubMed:19767382 OpenAlex:https://openalex.org/W3092855940

National Institutes of Health

Grant: 5U54HG006542-03

Baylor-Johns Hopkins Center for Mendelian Genetics

National Institutes of Health

Grant: 5K08HG008986-04

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

Wellcome Trust

Grant: unidentified

unidentified

greenLicense: cc-by-nc-nd

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2021/02/02/2020.10.10.20202622.full.pdf

repositoryhttps://doi.org/10.1101/2020.10.10.20202622

https://doi.org/10.1002/humu.24206

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

Fields of Study

Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesGenetic Neurodegenerative Diseases0301 basic medicine03 medical and health sciences0303 health sciences

Keywords

HypotoniaMissense mutationIntellectual disabilityNeuroimagingCorpus callosumGeneticsMedicineHyporeflexiaGenetic testingBioinformaticsPsychiatryBiologyPathologyPhenotypeGeneMaleModels, Molecularspastic paraplegiaTecpr2 ; Human Phenotype Ontology ; Neurodevelopmental Disorder ; Sensory Autonomic Neuropathy ; Spastic ParaplegiaAdolescentMutation, MissenseNerve Tissue ProteinsHuman Phenotype OntologyCohort StudiesHumanssensory autonomic neuropathyFamilyHereditary Sensory and Autonomic NeuropathiesChildTECPR2Infantneurodevelopmental disorderMagnetic Resonance ImagingPedigreeCross-Sectional StudiesChild, PreschoolFemaleCarrier Proteins

Sustainable Development Goals

SDG 3: 3. Good health