Guido Rubboli

Guido Rubboli

Clinical Professor

Member of:

    ORCID: 0000-0002-5309-2514

    Publication year:
    All
    11 - 20 out of 80Page 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. 2022
    9. 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

    10. 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

    11. Published

      Epilepsy in neurodegenerative diseases

      Neri, S., Mastroianni, G., Gardella, E., Aguglia, U. & Rubboli, Guido, 2022, In: Epileptic Disorders. 24, 2, p. 249-273 25 p.

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

    12. Published

      Expanding the phenotype of PURA-related developmental epileptic encephalopathy

      Rubboli, Guido & Johannesen, K. M., 2022, In: Epileptic Disorders. 24, 2, p. 445-446 2 p.

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

    Previous 1 2 3 4 5 6 7 8 Next

    ID: 119733516