Amsterdam Neuroscience

AUTS2-related syndrome: Insights from a large European cohort

Loberti, L., Adamo, L., Antolini, E., Casamassima, G., Destrèe, A., Brunetti-Pierri, N., Genevieve, D., Christophe, P., Coubes, C., van Esch, H., Herget, T., Kortüm, F., Lisfeld, J., Möllring, A. C., Zenker, M., Levy, J., Perrin, L., Tabet, A.-C., Maruani, A. & Sorlin, A. & 55 others, Stieber, D., Herissant, L., Dahan, K., Sinibaldi, L., Capolino, R., Dentici, M. L., Dallapiccola, B., Novelli, A., Garavelli, L., Caraffi, S. G., Piatelli, G., Valenzuela, I., Digilio, M. C., Caumes, R., Knopp, C., Chwiałkowska, K., Jezela-Stanek, A., Kwasniewski, M., Korotko, U., Gorzałczyńska, E., Canitano, R., Grosso, S., Rahikkala, E., Mattern, L., Elbracht, M., Zuffardi, O., Caputo, V., Toschi, B., Beunders, G., Leeuwen, L., Elting, M. W., van der Laan, L., Broekema, M. F., Groffen, A. J., van de Kamp, J. M., van Haelst, M. M., Alders, M., Mauro, S. P., de Razza, F., Varvara, D., Kick, J., Gaspar, H., Braun, D., Lausberg, E., Maier, A., Ruault, V., Genesio, R., Tartaglia, M., Tita, R., Bruttini, M., Longo, I., Baldassarri, M., Mencarelli, M. A., Renieri, A. & Pinto, A. M., 1 Jun 2025, In: Genetics in Medicine. 27, 6, 101375.

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

Tomosyns attenuate SNARE assembly and synaptic depression by binding to VAMP2-containing template complexes

Meijer, M., Öttl, M., Yang, J., Subkhangulova, A., Kumar, A., Feng, Z., van Voorst, T. W., Groffen, A. J., van Weering, J. R. T., Zhang, Y. & Verhage, M., 1 Dec 2024, In: Nature communications. 15, 1, 2652.

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

Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndrome

Tuijnenburg, F., Proost, V. M., Thollet, A., Barc, J., Groffen, A. J. A., Veerman, C. C., van der Crabben, S. N., van der Pas, V. R., Kyndt, F., Jurgens, S. J., Tanck, M. W. T., Postema, P. G., Peter van Tintelen, J., Bezzina, C. R., Probst, V., Wilde, A. A. M., Gourraud, J.-B. & Amin, A. S., 2024, (E-pub ahead of print) In: Heart rhythm.

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