Guido Rubboli

Guido Rubboli

Clinical Professor

Member of:

    ORCID: 0000-0002-5309-2514

    Publication year:
    All
    51 - 60 out of 81Page size: 10
    1. 2020
    2. Published

      Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

      Zilmer, M., Edmondson, A. C., Khetarpal, S. A., Alesi, V., Zaki, M. S., Rostasy, K., Madsen, C. G., Lepri, F. R., Sinibaldi, L., Cusmai, R., Novelli, A., Issa, M. Y., Fenger, C. D., Jamra, R. A., Reutter, H., Briuglia, S., Agolini, E., Hansen, L., Petäjä-Repo, U. E., Hintze, J. & 12 others, Raymond, K. M., Liedtke, K., Stanley, V., Musaev, D., Gleeson, J. G., Vitali, C., O’Brien, W. T., Gardella, E., Rubboli, Guido, Rader, D. J., Schjoldager, Katrine Ter-Borch Gram & Møller, R. S., 2020, In: Brain. 143, 4, p. 1114-1126 13 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    3. Published

      Patterns and prognostic markers for treatment response in generalized epilepsies

      Gesche, J., Hjalgrim, H., Rubboli, Guido & Beier, C. P., 2020, In: Neurology. 95, 18, p. e2519-e2528

      Research output: Contribution to journal › Journal article › Research › peer-review

    4. Published

      The clinical spectrum of familial and sporadic idiopathic generalized epilepsy

      Gesche, J., Hjalgrim, H., Rubboli, Guido & Beier, C. P., 2020, In: Epilepsy Research. 165, 106374.

      Research output: Contribution to journal › Journal article › Research › peer-review

    5. 2019
    6. Published

      From next-generation sequencing to targeted treatment of non-acquired epilepsies

      Møller, R. S., Hammer, T. B., Rubboli, Guido, Lemke, J. R. & Johannesen, K. M., Mar 2019, In: Expert Review of Molecular Diagnostics. 19, 3, p. 217-228 12 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    7. Published

      The landscape of epilepsy-related GATOR1 variants

      Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 68 others, Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F. E., Braun, K., de Jong, D., Rubboli, Guido, Talvik, I., Sander, V., Uldall, P., Jacquemont, M., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A., Jennesson, M., Sattar, S., Marchal, C., Nordli, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, Christian Thomas, Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., Feb 2019, In: Genetics In Medicine. 21, 2, p. 398-408 11 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    8. Published

      Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

      Wengert, E. R., Tronhjem, C. E., Wagnon, J. L., Johannesen, K. M., Petit, H., Krey, I., Saga, A. U., Panchal, P. S., Strohm, S. M., Lange, J., Kamphausen, S. B., Rubboli, Guido, Lemke, J. R., Gardella, E., Patel, M. K., Meisler, M. H. & Møller, R. S., 2019, In: Epilepsia. 60, 11, p. 2277-2285 9 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    9. Published

      Electromagnetic source imaging in presurgical workup of patients with epilepsy: A prospective study

      Duez, L., Tankisi, H., Hansen, P. O., Sidenius, P., Sabers, A., Pinborg, Lars Hageman, Fabricius, M., Rásonyi, G., Rubboli, Guido, Pedersen, B., Leffers, A., Uldall, P., Jespersen, B., Brennum, J., Henriksen, O. M., Fuglsang-Frederiksen, A. & Beniczky, S., 2019, In: Neurology. 92, 6, p. e576-e586

      Research output: Contribution to journal › Journal article › Research › peer-review

    10. Published

      Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a “pure” model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study

      Pavlidis, E., Møller, R. S., Nikanorova, M., Kölmel, M. S., Stendevad, P., Beniczky, S., Tassinari, C. A., Rubboli, Guido & Gardella, E., 2019, In: Epilepsy and Behavior. 97, p. 244-252 9 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    11. Published

      The spectrum of intermediate SCN8A-related epilepsy

      Johannesen, K. M., Gardella, E., Encinas, A. C., Lehesjoki, A. E., Linnankivi, T., Petersen, M. B., Lund, I. C. B., Blichfeldt, S., Miranda, M. J., Pal, D. K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C. D., Sisodiya, S. M., Hernandez-Hernandez, L., Krithika, S. & 25 others, Rumple, M., Masnada, S., Valente, M., Cereda, C., Giordano, L., Accorsi, P., Bürki, S. E., Mancardi, M., Korff, C., Guerrini, R., von Spiczak, S., Hoffman-Zacharska, D., Mazurczak, T., Coppola, A., Buono, S., Vecchi, M., Hammer, M. F., Varesio, C., Veggiotti, P., Lal, D., Brünger, T., Zara, F., Striano, P., Rubboli, Guido & Møller, R. S., 2019, In: Epilepsia. 60, 5, p. 830-844 15 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    12. 2018
    13. Published

      Defining the phenotypic spectrum of SLC6A1 mutations

      Johannesen, K. M., Gardella, E., Linnankivi, T., Courage, C., de Saint Martin, A., Lehesjoki, A. E., Mignot, C., Afenjar, A., Lesca, G., Abi-Warde, M. T., Chelly, J., Piton, A., Merritt, J. L., Rodan, L. H., Tan, W. H., Bird, L. M., Nespeca, M., Gleeson, J. G., Yoo, Y., Choi, M. & 32 others, Chae, J. H., Czapansky-Beilman, D., Reichert, S. C., Pendziwiat, M., Verhoeven, J. S., Schelhaas, H. J., Devinsky, O., Christensen, J., Specchio, N., Trivisano, M., Weber, Y. G., Nava, C., Keren, B., Doummar, D., Schaefer, E., Hopkins, S., Dubbs, H., Shaw, J. E., Pisani, L., Myers, C. T., Tang, S., Tang, S., Pal, D. K., Millichap, J. J., Carvill, G. L., Helbig, K. L., Mecarelli, O., Striano, P., Helbig, I., Rubboli, Guido, Mefford, H. C. & Møller, R. S., Feb 2018, In: Epilepsia. 59, 2, p. 389-402 14 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    Previous 12 3 4 5 6 7 8 9 Next

    ID: 119733516