Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

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Authors: Stephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A Botia, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcova, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Ar

Journal title: Brain

Journal number: 142/10

Journal publisher: Oxford University Press

Published year: 2019

Published pages: 2948-2964

DOI identifier: 10.1093/brain/awz248

ISSN: 0006-8950