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. Karashova; D. 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

doi:10.1016/j.ajhg.2019.02.016

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	721-730
Number of pages	10
Journal	American Journal of Human Genetics
Volume	104
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2019.02.016
Publication status	Published - 2019

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10.1016/j.ajhg.2019.02.016

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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

Salpietro, V, Malintan, N, Llano-Rivas, I, Spaeth, CG, Efthymiou, S, Striano, P, Vandrovcova, J, Cutrupi, MC, 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, Karashova, B, Avdjieva, D, Kathom, H, Tincheva, R, Van Maldergem, L, Nachbauer, W, Boesch, S, Arning, L, Timmann, D, Cormand, B, Pérez-Dueñas, B, Pironti, E, Goraya, JS, Sultan, T, Kirmani, S, Ibrahim, S, Jan, F, Mine, J, Banu, S, Veggiotti, P, Ferrari, MD, Verrotti, A, Marseglia, GL, Savasta, S, Garavaglia, B, Scuderi, C, Borgione, E, Dipasquale, V, Portaro, S, Sanchez, BM, Pineda-Marfa, M, Munell, F, Macaya, A, Boles, R, Heimer, G, Papacostas, S, Manole, A, Malintan, N, Zanetti, MN, Hanna, MG, Rothman, JE, Kullmann, DM, Houlden, H, Bello, OD, De Zorzi, R, Fortuna, S, Dauber, A, Alkhawaja, M, Mankad, K, Vitobello, A, Thomas, Q, Mau-Them, FT, Faivre, L, Martinez-Azorin, F, Prada, CE, Krishnakumar, SS, Study, DDD & Group, SYNAPSS 2019, 'Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment', American Journal of Human Genetics, vol. 104, no. 4, pp. 721-730. https://doi.org/10.1016/j.ajhg.2019.02.016

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title = "Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment",

author = "V. Salpietro and N. Malintan and I. Llano-Rivas and C.G. Spaeth and S. Efthymiou and P. Striano and J. Vandrovcova and M.C. Cutrupi and R. Chimenz and E. David and {Di Rosa}, G. and A. Marce-Grau and M. Raspall-Chaure and E. Martin-Hernandez and F. Zara and C. Minetti and Y. Kriouile and {El Khorassani}, M. and M. Aguennouz and B. Karashova and D. Avdjieva and H. Kathom and R. Tincheva and {Van Maldergem}, L. and W. Nachbauer and S. Boesch and L. Arning and D. Timmann and B. Cormand and B. P{\'e}rez-Due{\~n}as and E. Pironti and J.S. Goraya and T. Sultan and S. Kirmani and S. Ibrahim and F. Jan and J. Mine and S. Banu and P. Veggiotti and M.D. Ferrari and A. Verrotti and G.L. Marseglia and S. Savasta and B. Garavaglia and C. Scuderi and E. Borgione and V. Dipasquale and S. Portaro and B.M. Sanchez and M. Pineda-Marfa and F. Munell and A. Macaya and R. Boles and G. Heimer and S. Papacostas and A. Manole and N. Malintan and M.N. Zanetti and M.G. Hanna and J.E. Rothman and D.M. Kullmann and H. Houlden and O.D. Bello and {De Zorzi}, R. and S. Fortuna and A. Dauber and M. Alkhawaja and K. Mankad and A. Vitobello and Q. Thomas and F.T. Mau-Them and L. Faivre and F. Martinez-Azorin and C.E. Prada and S.S. Krishnakumar and Study, {Deciphering Developmental Disorders} and Group, {SYNAPS Study}",

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AU - Llano-Rivas, I.

AU - Spaeth, C.G.

AU - Efthymiou, S.

AU - Striano, P.

AU - Vandrovcova, J.

AU - Cutrupi, M.C.

AU - Chimenz, R.

AU - David, E.

AU - Di Rosa, G.

AU - Marce-Grau, A.

AU - Raspall-Chaure, M.

AU - Martin-Hernandez, E.

AU - Zara, F.

AU - Minetti, C.

AU - Kriouile, Y.

AU - El Khorassani, M.

AU - Aguennouz, M.

AU - Karashova, B.

AU - Avdjieva, D.

AU - Kathom, H.

AU - Tincheva, R.

AU - Van Maldergem, L.

AU - Nachbauer, W.

AU - Boesch, S.

AU - Arning, L.

AU - Timmann, D.

AU - Cormand, B.

AU - Pérez-Dueñas, B.

AU - Pironti, E.

AU - Goraya, J.S.

AU - Sultan, T.

AU - Kirmani, S.

AU - Ibrahim, S.

AU - Jan, F.

AU - Mine, J.

AU - Banu, S.

AU - Veggiotti, P.

AU - Ferrari, M.D.

AU - Verrotti, A.

AU - Marseglia, G.L.

AU - Savasta, S.

AU - Garavaglia, B.

AU - Scuderi, C.

AU - Borgione, E.

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AU - Portaro, S.

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AU - Pineda-Marfa, M.

AU - Munell, F.

AU - Macaya, A.

AU - Boles, R.

AU - Heimer, G.

AU - Papacostas, S.

AU - Manole, A.

AU - Malintan, N.

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AU - Kullmann, D.M.

AU - Houlden, H.

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AU - De Zorzi, R.

AU - Fortuna, S.

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AU - Alkhawaja, M.

AU - Mankad, K.

AU - Vitobello, A.

AU - Thomas, Q.

AU - Mau-Them, F.T.

AU - Faivre, L.

AU - Martinez-Azorin, F.

AU - Prada, C.E.

AU - Krishnakumar, S.S.

AU - Study, Deciphering Developmental Disorders

AU - Group, SYNAPS Study

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