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Dive into the research topics where Francesca Furia is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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  • IRF2BPL as a novel causative gene for progressive myoclonus epilepsy

    Gardella, E., Michelucci, R., Christensen, H. M., Fenger, C. D., Reale, C., Riguzzi, P., Pasini, E., Albini-Riccioli, L., Papa, V., Foschini, M. P., Cenacchi, G., Furia, F., Marjanovic, D., Hammer, T. B., Møller, R. S. & Rubboli, G., Aug 2023, In: Epilepsia. 64, 8, p. e170-e176

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • Assessing the landscape of STXBP1-related disorders in 534 individuals

    Xian, J., Parthasarathy, S., Ruggiero, S. M., Balagura, G., Fitch, E., Helbig, K., Gan, J., Ganesan, S., Kaufman, M. C., Ellis, C. A., Lewis-Smith, D., Galer, P., Cunningham, K., O'brien, M., Cosico, M., Baker, K., Darling, A., Veiga De Goes, F., El Achkar, C. M., Doering, J. H., & 34 othersFuria, F., Garciá-Cazorla, Á., Gardella, E., Geertjens, L., Klein, C., Kolesnik-Taylor, A., Lammertse, H., Lee, J., Mackie, A., Misra-Isrie, M., Olson, H., Sexton, E., Sheidley, B., Smith, L., Sotero, L., Stamberger, H., Syrbe, S., Thalwitzer, K. M., Van Berkel, A., Van Haelst, M., Yuskaitis, C., Weckhuysen, S., Prosser, B., Son Rigby, C., Demarest, S., Pierce, S., Zhang, Y., Møller, R. S., Bruining, H., Poduri, A., Zara, F., Verhage, M., Striano, P. & Helbig, I., May 2022, In: Brain. 145, 5, p. 1668-1683

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
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    92 Downloads (Pure)
  • Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood

    Stamberger, H., Crosiers, D., Balagura, G., Bonardi, C. M., Basu, A., Cantalupo, G., Chiesa, V., Christensen, J., Dalla Bernardina, B., Ellis, C. A., Furia, F., Gardiner, F., Giron, C., Guerrini, R., Klein, K. M., Korff, C., Krijtova, H., Leffner, M., Lerche, H., Lesca, G., & 21 othersLewis-Smith, D., Marini, C., Marjanovic, D., Mazzola, L., McKeown Ruggiero, S., Mochel, F., Ramond, F., Reif, P. S., Richard-Mornas, A., Rosenow, F., Schropp, C., Thomas, R. H., Vignoli, A., Weber, Y., Palmer, E., Helbig, I., Scheffer, I. E., Striano, P., Møller, R. S., Gardella, E. & Weckhuysen, S., 19. Jul 2022, In: Neurology. 99, 3, p. E221-E233 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
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    23 Downloads (Pure)
  • Sleep problems in patients with SCN8A epilepsy

    Furia, F., Johannesen, K. M., Bonardi, C. M., Savoie, H., Scarcelli, C., Waegner, R., Clay, B., Moeller, R. S. & Gardella, E., 3. Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 221 1 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • The KCNB1 phenotypic and genetic spectrum

    Reale, C., Fenger, C. D., Neu, A., Sukno, S., McKeown, S., Borovikov, A., Gorman, K., Trivisano, M., Lo Barco, T., Krey, I., Navarro, I. M. M., La Selva, L., Bayat, A., Bijlsma, E. K., Rokkjaer, M., Borggrafe, I., Sauders, C. J., Yis, U., Ram, D., Bierhals, T., & 39 othersFrancannet, C., Bonardi, C. M., Goldenberg, A., Dadali, E., Green, A., Cohen, R., Muhle, H., Beniczky, S., Massingham, L., Fusco, C., Specchio, N., Allen, N. M., Cantalupo, G., Sharkov, A., Helbig, I., Gerard, B., Lessel, D., Rubboli, G., Moeller, R. S., Gardella, E., McKeowns, S., Furia, F., Afawi, Z., Bernardina, B. D., Campbell, W., Fiedler, B., Fontana, E., Hall, A. S., Hoi-Hansen, C., Klein, K. M., King, M., Lynch, B., Lemke, J., Gaudda, A., Nikanorova, M., Rahner, M., Spagnoli, C., Banka, S. & Pendziwiat, M., Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 222-223 2 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review