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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
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
http://hdl.handle.net/11570/3144286
Autor:
Lonlay, P. de, Giurgea, Irina, Robert, Jean Jacques, Fournet, Jean-Christophe, Touati, Guy, Nihoul-Fékété, Claire, Brunelle, Francis, Jaubert, Francis, Rahier, Jacques, Sempoux, Christine, Junien, Claudine, Saudubray, Jean Marie, Dunne, Mark, Otonkoski, Timo, Ribeiro, Maria E. N. P., Bellané-Chantelot, Christine
Publikováno v:
Lonlay, P D, Giurgea, I, Robert, J J, Fournet, J-C, Touati, G, Nihoul-Fékété, C, Brunelle, F, Jaubert, F, Rahier, J, Sempoux, C, Junien, C, Saudubray, J M, Dunne, M, Otonkoski, T, Ribeiro, M E N P, Bellané-Chantelot, C & European Group of Hyperinsulinism 2004, ' Hyperinsulinemic hypoglycemia in children ', Annales d'Endocrinologie, vol. 65, no. 1, pp. 96-98 . https://doi.org/10.1016/S0003-4266(04)95640-5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a0c3fb27ea90bdd5b32b107a3d4adfc
https://www.research.manchester.ac.uk/portal/en/publications/hyperinsulinemic-hypoglycemia-in-children(5e067d55-e843-486d-9b27-c955b6dba88b).html
https://www.research.manchester.ac.uk/portal/en/publications/hyperinsulinemic-hypoglycemia-in-children(5e067d55-e843-486d-9b27-c955b6dba88b).html
Autor:
Bâtie, C. Dejean de la, Barbier, V., Valayannopoulos, V., Touati, G., Maltret, A., Brassier, A., Arnoux, J. B., Grévent, D., Chadefaux, B., Ottolenghi, C., Canouï, P., Lonlay, P. de
Publikováno v:
Journal of Child Neurology; Feb2014, Vol. 29 Issue 2, p274-279, 6p
Autor:
Lonlay, Pascale de, Cormier-Daire, Valérie, Amiel, Jeanne, Touati, Guy, Goldenberg, Alice, Fournet, Jean-Christophe, Brunelle, Francis, Nihoul-Fékété, Claire, Rahier, Jacques, Junien, Claudine, Robert, Jean-Jacques, Saudubray, Jean-Marie
Publikováno v:
American Journal of Medical Genetics. Part A; 1 August 2002, Vol. 111 Issue: 2 p130-133, 4p
Autor:
Romero, N. B., Lonlay, P. De, Llense, S., Leturcq, F., Touati, G., Urtizberea, J. A., Saudubray, J. M., Munnich, A., Kaplan, J. C., Recan, D.
Publikováno v:
Neuromuscular Disorders; 2001, Vol. 11 Issue: 5 p494-498, 5p
Autor:
Amiel, Jeanne, Lonlay, Pascale de, Francannet, Christine, Picard, Alain, Bruel, Henri, Rabier, Daniel, Merrer, Martine Le, Verhoeven, Nanda, Jakobs, Cornelis, Lyonnet, Stanislas, Munnich, Arnold
Publikováno v:
American Journal of Medical Genetics. Part A; 10 September 1999, Vol. 86 Issue: 2 p124-129, 6p
Autor:
Cormier-Daire, V., Superti-Furga, A., Munnich, A., Lyonnet, S., Rustin, P., Delezoide, A.L., Lonlay, P. De, Giedion, A., Maroteaux, P., Merrer, M. Le
Publikováno v:
American Journal of Medical Genetics. Part A; 30 June 1998, Vol. 78 Issue: 2 p146-149, 4p
Autor:
Cormier-Daire, V., Vuillaumier-Barrot, S., Barnier, A., Dupré, T., Cuer, M., Durand, G., Seta, N., Hetet, G., Grandchamp, B., Lonlay, P. de
Publikováno v:
Journal of Medical Genetics (JMG); August 1, 2000, Vol. 37 Issue: 8 p579-580, 2p
Autor:
Mention, K.1, Lacaille, F.1, Valayannopoulos, V.1, Romano, S.1, Kuster, A.2, Cretz, M.3, Zaidan, H.1, Galmiche, L.4, Jaubert, F.4, Keyzer, Y. de5, Seta, N.6, Lonlay, P. de1,5 pascale.delonlay@nck.aphp.fr
Publikováno v:
Molecular Genetics & Metabolism. Jan2008, Vol. 93 Issue 1, p40-43. 4p.