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  • Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants

    Cuccurullo, C., Cerulli Irelli, E., Ugga, L., Riva, A., D'Amico, A., Cabet, S., Lesca, G., Bilo, L., Zara, F., Iliescu, C., Barca, D., Fung, F., Helbig, K., Ortiz-Gonzalez, X., Schelhaas, H. J., Willemsen, M. H., van der Linden, I., Canafoglia, L., Courage, C. & Gommaraschi, S. & 49 others, Gonzalez-Alegre, P., Bardakjian, T., Syrbe, S., Schuler, E., Lemke, J. R., Vari, S., Roende, G., Bak, M., Huq, M., Powis, Z., Johannesen, K. M., Hammer, T. B., Møller, R. S., Rabin, R., Pappas, J., Zupanc, M. L., Zadeh, N., Cohen, J., Naidu, S., Krey, I., Saneto, R., Thies, J., Licchetta, L., Tinuper, P., Bisulli, F., Minardi, R., Bayat, A., Villeneuve, N., Molinari, F., Salimi Dafsari, H., Moller, B., Le Roux, M., Houdayer, C., Vecchi, M., Mammi, I., Fiorini, E., Proietti, J., Ferri, S., Cantalupo, G., Battaglia, D. I., Gambardella, M. L., Contaldo, I., Brogna, C., Trivisano, M., De Dominicis, A., Bova, S. M., Gardella, E., Striano, P. & Coppola, A., Sept 2024, In: Epilepsia. 65, 9, p. 2728-2750

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Developmental epileptic encephalopathy in DLG4-related synaptopathy

    Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé-Pichon, A. S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A. & Gómez-Andrés, D. & 44 others, Greiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. M., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Z. & Rubboli, G., Apr 2024, In: Epilepsia. 65, 4, p. 1029-1045

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Early mortality in STXBP1-related disorders

    European STXBP1 consortium (ESCO) & STXBP1 foundation, 11. Oct 2024, (E-pub ahead of print) In: Neurological Sciences.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
  • Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy

    Moya Quiros, V., Adham, A., Convers, P., Lesca, G., Mauguiere, F., Soulier, H., Arzimanoglou, A., Bayat, A., Braakman, H., Camdessanche, J. P., Casenave, P., Chaton, L., Chaix, Y., Chochoi, M., Depienne, C., Desportes, V., De Ridder, J., Dinkelacker, V., Gardella, E. & Kluger, G. J. & 11 others, Jung, J., Lemesle Martin, M., Mancardi, M. M., Mueller, M., Poulat, A. L., Platzer, K., Roubertie, A., Stokman, M. F., Vulto-van Silfhout, A. T., Wiegand, G. & Mazzola, L., 23. Aug 2024, (E-pub ahead of print) In: Annals of Neurology.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
  • Emergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy

    Ancora, C., Ortigoza-Escobar, J. D., Valletti, M. A., Furia, F., Nielsen, J. E. K., Møller, R. S. & Gardella, E., Apr 2024, In: Epileptic Disorders. 26, 2, p. 219-224

    Research output: Contribution to journalComment/debateResearchpeer-review

    Open Access