Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

V. Salpietro, N. Malintan, I. Llano-Rivas, C.G. Spaeth, S. Efthymiou, P. Striano, J. Vandrovcova, M.C. Cutrupi, R. Chimenz, E. David, G. Di Rosa, A. Marce-Grau, M. Raspall-Chaure, E. Martin-Hernandez, F. Zara, C. Minetti, Y. Kriouile, M. El Khorassani, M. Aguennouz, B. KarashovaD. Avdjieva, H. Kathom, R. Tincheva, L. Van Maldergem, W. Nachbauer, S. Boesch, L. Arning, D. Timmann, B. Cormand, B. Pérez-Dueñas, E. Pironti, J.S. Goraya, T. Sultan, S. Kirmani, S. Ibrahim, F. Jan, J. Mine, S. Banu, P. Veggiotti, M.D. Ferrari, A. Verrotti, G.L. Marseglia, S. Savasta, B. Garavaglia, C. Scuderi, E. Borgione, V. Dipasquale, S. Portaro, B.M. Sanchez, M. Pineda-Marfa, F. Munell, A. Macaya, R. Boles, G. Heimer, S. Papacostas, A. Manole, N. Malintan, M.N. Zanetti, M.G. Hanna, J.E. Rothman, D.M. Kullmann, H. Houlden, O.D. Bello, R. De Zorzi, S. Fortuna, A. Dauber, M. Alkhawaja, K. Mankad, A. Vitobello, Q. Thomas, F.T. Mau-Them, L. Faivre, F. Martinez-Azorin, C.E. Prada, S.S. Krishnakumar, Deciphering Developmental Disorders Study, SYNAPS Study Group

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Salpietro, V., Malintan, N., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., Di Rosa, G., Marce-Grau, A., Raspall-Chaure, M., Martin-Hernandez, E., Zara, F., Minetti, C., Kriouile, Y., El Khorassani, M., Aguennouz, M., ... Group, SYNAPS. S. (2019). Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. American Journal of Human Genetics, 104(4), 721-730. https://doi.org/10.1016/j.ajhg.2019.02.016