Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
| Autor: | Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay, Cortese, Andrea |
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| Přispěvatelé: | UCL Institute of Neurology, Queen Square [London], University College of London [London] (UCL), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Università degli studi di Trieste = University of Trieste, Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, University of Oxford, Indiana University [South Bend], Indiana University System, ANR-16-CE12-0005,SCD-Mec,Mécanismes développementaux des anomalies structurelles cérébelleuses(2016), UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, University of Trieste, University of Oxford [Oxford] |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
[SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology
[SDV]Life Sciences [q-bio] [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB] [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ComputingMilieux_MISCELLANEOUS |
| Zdroj: | Brain-A Journal of Neurology Brain-A Journal of Neurology, 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩ Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩ |
| ISSN: | 0006-8950 1460-2156 |
| Popis: | International audience |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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