Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11

por Kramer, J.J., Boon, H.T.M., Leijten, Q.H., Ter Laak, Henk, Eshuis, L., Kusters, B., van Doorn, J.L.M., Kamsteeg, E.J., Eymard, B., Doorduin, J., Voermans, N.C.
Publicado 2023

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

por Voermans, N. C., van der Bilt, R. C., IJspeert, J., Hogrel, J. Y., Jeanpierre, M., Behin, A., Laforet, P., Stojkovic, T., van Engelen, B. G., Padberg, G. W., Sacconi, S., Lemmers, R. J. L. F., van der Maarel, S. M., Eymard, B., Bassez, G.
Publicado 2019

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

por Mosbah, H., Donadille, B., Vatier, C., Janmaat, S., Atlan, M., Badens, C., Barat, P., Béliard, S., Beltrand, J., Ben Yaou, R., Bismuth, E., Boccara, F., Cariou, B., Chaouat, M., Charriot, G., Christin-Maitre, S., De Kerdanet, M., Delemer, B., Disse, E., Dubois, N., Eymard, B., Fève, B., Lascols, O., Mathurin, P., Nobécourt, E., Poujol-Robert, A., Prevost, G., Richard, P., Sellam, J., Tauveron, I., Treboz, D., Vergès, B., Vermot-Desroches, V., Wahbi, K., Jéru, I., Vantyghem, M. C., Vigouroux, C.
Publicado 2022