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

Access to Document

10.1016/j.ajhg.2019.02.016

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85063684737&doi=10.1016%2fj.ajhg.2019.02.016&partnerID=40&md5=7cf05b182843ba6452f90892fff2af59

Cite this

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

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. / 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.; 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, J.S.; Sultan, T.; Kirmani, S.; Ibrahim, S.; Jan, F.; Mine, J.; Banu, S.; Veggiotti, P.; Ferrari, M.D.; Verrotti, A.; Marseglia, G.L.; Savasta, S.; Garavaglia, B.; Scuderi, C.; Borgione, E.; Dipasquale, V.; Portaro, S.; Sanchez, B.M.; Pineda-Marfa, M.; Munell, F.; Macaya, A.; Boles, R.; Heimer, G.; Papacostas, S.; Manole, A.; Malintan, N.; Zanetti, M.N.; Hanna, M.G.; Rothman, J.E.; Kullmann, D.M.; Houlden, H.; Bello, O.D.; De Zorzi, R.; Fortuna, S.; Dauber, A.; Alkhawaja, M.; Mankad, K.; Vitobello, A.; Thomas, Q.; Mau-Them, F.T.; Faivre, L.; Martinez-Azorin, F.; Prada, C.E.; Krishnakumar, S.S.; Study, Deciphering Developmental Disorders; Group, SYNAPS Study.

In: American Journal of Human Genetics, Vol. 104, No. 4, 2019, p. 721-730.

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

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

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. ; 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, J.S. ; Sultan, T. ; Kirmani, S. ; Ibrahim, S. ; Jan, F. ; Mine, J. ; Banu, S. ; Veggiotti, P. ; Ferrari, M.D. ; Verrotti, A. ; Marseglia, G.L. ; Savasta, S. ; Garavaglia, B. ; Scuderi, C. ; Borgione, E. ; Dipasquale, V. ; Portaro, S. ; Sanchez, B.M. ; Pineda-Marfa, M. ; Munell, F. ; Macaya, A. ; Boles, R. ; Heimer, G. ; Papacostas, S. ; Manole, A. ; Malintan, N. ; Zanetti, M.N. ; Hanna, M.G. ; Rothman, J.E. ; Kullmann, D.M. ; Houlden, H. ; Bello, O.D. ; De Zorzi, R. ; Fortuna, S. ; Dauber, A. ; Alkhawaja, M. ; Mankad, K. ; Vitobello, A. ; Thomas, Q. ; Mau-Them, F.T. ; Faivre, L. ; Martinez-Azorin, F. ; Prada, C.E. ; Krishnakumar, S.S. ; Study, Deciphering Developmental Disorders ; Group, SYNAPS Study. / Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. In: American Journal of Human Genetics. 2019 ; Vol. 104, No. 4. pp. 721-730.

@article{e1663f68e6624f47b14ef3cc6896df42,

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}",

note = "Cited By :4 Export Date: 10 February 2020",

year = "2019",

doi = "10.1016/j.ajhg.2019.02.016",

language = "English",

volume = "104",

pages = "721--730",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "4",

}

TY - JOUR

T1 - Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

AU - Salpietro, V.

AU - Malintan, N.

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.

AU - Dipasquale, V.

AU - Portaro, S.

AU - Sanchez, B.M.

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.

AU - Zanetti, M.N.

AU - Hanna, M.G.

AU - Rothman, J.E.

AU - Kullmann, D.M.

AU - Houlden, H.

AU - Bello, O.D.

AU - De Zorzi, R.

AU - Fortuna, S.

AU - Dauber, A.

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

N1 - Cited By :4 Export Date: 10 February 2020

PY - 2019

Y1 - 2019

U2 - 10.1016/j.ajhg.2019.02.016

DO - 10.1016/j.ajhg.2019.02.016

M3 - Article

VL - 104

SP - 721

EP - 730

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 4

ER -