Guido Rubboli

Guido Rubboli

Clinical Professor

Member of:

    ORCID: 0000-0002-5309-2514

    Publication year:
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    1 - 10 out of 12Page size: 10
    1. 2023
    2. Published

      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, Guido, 2023, In: Epilepsia. 64, 8, p. e170-e176 7 p.

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

    3. Published

      KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties

      Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B., Koch, J., Strehlow, V., Shirai, K., Matsumoto, N., Sanders, S. J., Michaud, V., Legendre, M., Riva, A., Striano, P., Muhle, H., Pendziwiat, M., Lesca, G., Mangano, G. D., Nardello, R. & 6 others, Lemke, J. R., Møller, R. S., Soldovieri, M. V., Rubboli, Guido, Taglialatela, M. & KCNT2-study group, K. G., 2023, In: Annals of Neurology. 94, 2, p. 332-349

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

    4. Published

      PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)

      Cossu, A., Santos, J. L., Galati, G., Nikanorova, M., Costa, P., Mang, Y., Silahtaroglu, Asli, Rubboli, Guido, Tommerup, Niels, Dalla Bernardina, B., Møller, R. S., Cantalupo, G. & Gardella, E., 2023, In: Neurological Sciences. 44, 6, p. 2173-2176 4 p.

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

    5. Published

      Editorial: SLC6A1: the past, present and future

      Johannesen, K. M., Pérez-Palma, E. & Rubboli, Guido, 2023, In: Frontiers in Neuroscience. 17, 2 p., 1289821.

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

    6. Published

      Encephalopathy related to status epilepticus during slow sleep (ESES). Pathophysiological insights and nosological considerations

      Rubboli, Guido, Gardella, E., Cantalupo, G. & Alberto Tassinari, C., 2023, In: Epilepsy and Behavior. 140, 109105.

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

    7. Published

      Intrafamilial variability in SLC6A1-related neurodevelopmental disorders: [Inkl. Correction]

      Kassabian, B., Fenger, C. D., Willems, M., Aledo-Serrano, A., Linnankivi, T., McDonnell, P. P., Lusk, L., Jepsen, B. S., Bayat, M., Kattentidt, A., Vidal, A. A., Valero-Lopez, G., Alarcon-Martinez, H., Goodspeed, K., van Slegtenhorst, M., Barakat, T. S., Møller, R. S., Johannesen, K. M. & Rubboli, Guido, 2023, In: Frontiers in Neuroscience. 17, 11 p., 1219262.

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

    8. 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

    9. 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

    10. 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

    11. 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

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