Author: Synaps Study Grp

0000000000045083

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Synaps Study Grp

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

2019

See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.

Male[SDV]Life Sciences [q-bio][SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyNerve Fibers MyelinatedGene FrequencyNeurodevelopmental Disorder[SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]Nerve Growth FactorProtein IsoformsChildComputingMilieux_MISCELLANEOUSMyelin Sheathneurofascin; neurodevelopment; peripheral demyelinationAlleleneurodevelopmentDemyelinating DiseaseGenomicsneurodevelopment neurofascin peripheral demyelinationSettore MED/39 - Neuropsichiatria InfantilePedigree[SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunologyChild PreschoolPeripheral Nerve[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Femaleneurodevelopment; neurofascin; peripheral demyelinationNeurogliaHumanAdultAdolescentNervous System MalformationsGuillain-Barre SyndromeAxonNervous System MalformationneurofascinRanvier's NodesHumansNerve Growth FactorsPeripheral NervesAllelesAutoantibodiesperipheral demyelinationInfantProtein IsoformOriginal ArticlesAxonsnervous systemNeurodevelopmental DisordersCell Adhesion MoleculeMutationCell Adhesion MoleculesDemyelinating Diseases

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