Guido Rubboli

Guido Rubboli

Clinical Professor

Member of:

    ORCID: 0000-0002-5309-2514

    Publication year:
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    71 - 80 out of 81Page size: 10
    1. 2023
    2. Published

      POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

      Rossi, A., Blok, L. S., Neuser, S., Klöckner, C., Platzer, K., Faivre, L. O., Weigand, H., Dentici, M. L., Tartaglia, M., Niceta, M., Alfieri, P., Srivastava, S., Coulter, D., Smith, L., Vinorum, K., Cappuccio, G., Brunetti-Pierri, N., Torun, D., Arslan, M., Lauridsen, M. F. & 23 others, Murch, O., Irving, R., Lynch, S. A., Mehta, S. G., Carmichael, J., Zonneveld-Huijssoon, E., de Vries, B., Kleefstra, T., Johannesen, K. M., Westphall, Ian, Hughes, S. S., Smithson, S., Evans, J., Dudding-Byth, T., Simon, M., van Binsbergen, E., Herkert, J. C., Beunders, G., Oppermann, H., Bakal, M., Møller, R. S., Rubboli, Guido & Bayat, A., 2023, In: Clinical Genetics. 104, 2, p. 186-197

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

    3. Published

      Postprocessing of MRIs Using FreeSurfer in Epilepsy Surgery Patients Provides an Excellent Imaging Marker of Hippocampal Sclerosis but Fails to Separate Subtypes

      Kloster, A. G., Opheim, G., Alfstad, K., Larsen, K. B., Niehusmann, P., Holm, E., Fink-Jensen, P., Lund, Eva Løbner, Jespersen, B., Ivanovic, J., Rubboli, Guido, Madsen, C. G., Marthinsen, P. B., Ganz, Melanie, Lossius, M. & Pinborg, Lars Hageman, 2023, In: Acta Neurologica Scandinavica. 2023, 10 p., 2366355.

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

    4. Published

      The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders

      Johannesen, K. M., Nielsen, Jimmi, Sabers, A., Isidor, B., Kattentidt-Mouravieva, A. A., Zieglgänsberger, D., Heidlebaugh, A. R., Oetjens, K. F., Vidal, A. A., Christensen, J., Tiller, J., Freed, A. N., Møller, R. S. & Rubboli, Guido, 2023, In: Frontiers in Neuroscience. 17, 7 p., 1216653.

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

    5. Published

      Transcranial magnetic stimulation in progressive myoclonus epilepsy: A promising tool for “deep phenotyping” in genetic epilepsies

      Rubboli, Guido & Valzania, F., 2023, In: Epilepsia. 64, 9, p. 2534-2535 2 p.

      Research output: Contribution to journal › Comment/debate › Research › peer-review

    6. Published

      Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications

      BIOJUME Consortium, B. C., 2023, In: Brain Communications. 5, 3, 18 p., fcad182.

      Research output: Contribution to journal › Review › Research › peer-review

    7. Published

      Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant

      Gjerulfsen, C. E., Mieszczanek, T. S., Johannesen, K. M., Liao, V. W. Y., Chebib, M., Nørby, H. A. J., Gardella, E., Rubboli, Guido, Ahring, P. & Møller, R. S., 2023, In: Annals of Clinical and Translational Neurology. 10, 8, p. 1493-1498 6 p.

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

    8. 2024
    9. Accepted/In press

      ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients

      Córdoba, N. M., Lince-Rivera, I., Gómez, J. L. R., Rubboli, Guido & De la Rosa, S. O., 2024, (Accepted/In press) In: Epileptic Disorders. 9 p.

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

    10. Published

      Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

      RESCUE ESES study group, R. E. S. G., 2024, In: The Lancet Neurology. 23, 2, p. 147-156 10 p.

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

    11. Published

      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, Asuman Zeynep & Rubboli, Guido, 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.

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

    12. Published

      Prediction tools and risk stratification in epilepsy surgery

      Hadady, L., Sperling, M. R., Alcala-Zermeno, J. L., French, J. A., Dugan, P., Jehi, L., Fabó, D., Klivényi, P., Rubboli, Guido & Beniczky, S., 2024, In: Epilepsia. 65, 2, p. 414-421 8 p.

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

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    ID: 119733516