Optimizing diagnosis of neuromuscular diseases by high-throughput sequencing: Genetic characterization and classification of sequence variants

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

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Publikováno v: Brain
Brain, 142, 2948-2964. OXFORD UNIV PRESS
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩
Web of Science

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 var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c7c064194867fb9fae777523d58b32c6
http://hdl.handle.net/11570/3144286

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Management of X‑linked adrenoleukodystrophy in Morocco: actual situation.

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Publikováno v: BMC Research Notes. 11/7/2017, Vol. 10, p1-6. 6p. 3 Diagrams, 2 Charts.

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