20192019

Research output per year

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Fingerprint Dive into the research topics where Vincenzo Salpietro is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SKABAR ALDO, 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticle

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

Wang, H., Kaçar Bayram, A., Sprute, R., Ozdemir, O., Cooper, E., Pergande, M., Efthymiou, S., Nedic, I., Mazaheri, N., Stumpfe, K., Azizi Malamiri, R., Shariati, G., Zeighami, J., Bayram, N., Naghibzadeh, S. K., Tajik, M., Yaşar, M., Sami Güven, A., Bibi, F., Sultan, T. & 7 others, Salpietro, V., Houlden, H., Per, H., Galehdari, H., Shalbafan, B., Jamshidi, Y. & Cirak, S., 2019, In : Frontiers in Neuroscience. 13, p. 974

Research output: Contribution to journalArticle

  • 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. & 57 others, 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, D. D. D. & Group, SYNAPS. S., 2019, In : American Journal of Human Genetics. 104, 4, p. 721-730 10 p.

    Research output: Contribution to journalArticle

    Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

    Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, Striano, P., Zara, F., Iacomino, M., Madia, F., Mancardi, M. M. & Salpietro, V., Aug 1 2019, In : American Journal of Human Genetics. 105, 2, p. 267-282 16 p.

    Research output: Contribution to journalArticle