Guido Rubboli

Guido Rubboli

Clinical Professor

Member of:

    ORCID: 0000-0002-5309-2514

    Publication year:
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    11 - 20 out of 81Page size: 10
    1. 2023
    2. 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

    3. 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

    4. 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

    5. 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

    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

      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

    8. 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

    9. 2022
    10. Published

      Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384

      Amadori, E., Pellino, G., Bansal, L., Mazzone, S., Møller, R. S., Rubboli, Guido, Striano, P. & Russo, A., 2022, In: European Journal of Medical Genetics. 65, 12, 104634.

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

    11. Published

      Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy

      Amadori, E., Pellino, G., Bansal, L., Mazzone, S., Møller, R. S., Rubboli, Guido, Striano, P. & Russo, A., 2022, In: European Journal of Medical Genetics. 65, 4, 104450.

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

    12. Published

      Automated ictal EEG source imaging: A retrospective, blinded clinical validation study

      Baroumand, A. G., Arbune, A. A., Strobbe, G., Keereman, V., Pinborg, Lars Hageman, Fabricius, M., Rubboli, Guido, Gøbel Madsen, C., Jespersen, B., Brennum, J., Mølby Henriksen, O., Mierlo, P. V. & Beniczky, S., 2022, In: Clinical Neurophysiology. 141, p. 119-125

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

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    ID: 119733516