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Oxford University Press, Brain, 10(142), p. 2948-2964, 2019

DOI: 10.1093/brain/awz248

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Journal article published in 2019 by Sarah Wiethoff, Markus Schuelke, Jana Vandrovcova, Arn M. J. M. van den Maagdenberg, Dagmar Timmann, A. M. J. M. Van Den Maagdenberg, Tipu Sultan, Radka Tincheva, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Benigno Monteagudo Sanchez, Michail Vikelis, Laurence Walsh, Erin Torti and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.