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How to approach a neurogenetics diagnosis in different European countries - The EAN Neurogenetics Panel survey

Autor: Mancuso, M, Houlden, H, Molnar, M J, Filla, A, Breza, M, Graessner, H, Bassetti, CLA, Boesch, S

Publikováno v: Mancuso, M; Houlden, H; Molnar, M J; Filla, A; Breza, M; Graessner, H; Bassetti, CLA; Boesch, S (2022). How to approach a neurogenetics diagnosis in different European countries-The EAN Neurogenetics Panel survey. European journal of neurology, 29(7), pp. 1885-1891. Wiley 10.1111/ene.15320

BACKGROUND AND PURPOSE 7,000 rare diseases have been identified, most of them are of genetic origin. The diagnosis of a neurogenetic disease is difficult, and management and training programs are not well defined through Europe. To capture and assess

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7186cc970af6ed7573f73def69f7fd45
https://boris.unibe.ch/167204/1/Euro_J_of_Neurology_-_2022_-_Mancuso_-_How_to_approach_a_neurogenetics_diagnosis_in_different_European_countries_The_EAN.pdf

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Autor: Efthymiou, S., Salpietro, V., Malintan, N., Poncelet, M., Kriouile, Y., Fortuna, S., Zorzi, R. de, Payne, K., Henderson, L.B., Cortese, A., Maddirevula, S., Alhashmi, N., Wiethoff, S., Ryten, M., Botia, J.A., Provitera, V., Schuelke, M., Vandrovcova, J., Groppa, S., Karashova, B.M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Goraya, J.S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M.D., Maagdenberg, A.M.J.M. van den, Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A.M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B.M., Boles, R., Papacostas, S., Vikelis, M., Rothman, J., Kullmann, D., Papanicolaou, E.Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N.N., Atawneh, O., Lim, S.Y., Shaikh, F., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y.A., Minetti, C., Al-Khawaja, I., Al-Mutairi, F., Hamed, S., Pipis, M., Bettencourt, C., Rinaldi, S., Walsh, L., Torti, E., Iodice, V., Najafi, M., Karimiani, E.G., Maroofian, R., Siquier-Pernet, K., Boddaert, N., Lonlay, P. de, Cantagrel, V., Aguennouz, M., Khorassani, M. el, Schmidts, M., Alkuraya, F.S., Edvardson, S., Nolano, M., Devaux, J., Houlden, H., SYNAPS Study Grp

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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