Guido Rubboli
Clinical Professor
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Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties
Oliver, K. L., Franceschetti, S., Milligan, C. J., Muona, M., Mandelstam, S. A., Canafoglia, L., Boguszewska-Chachulska, A. M., Korczyn, A. D., Bisulli, F., Di Bonaventura, C., Ragona, F., Michelucci, R., Ben-Zeev, B., Straussberg, R., Panzica, F., Massano, J., Friedman, D., Crespel, A., Engelsen, B. A., Andermann, F. & 20 others, , May 2017, In: Annals of Neurology. 81, 5, p. 677-689Research output: Contribution to journal › Journal article › Research › peer-review
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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, , 2020, In: Brain. 143, 4, p. 1114-1126 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Optimal choice of antiseizure medication: Agreement among experts and validation of a web-based decision support application
Beniczky, S., Rampp, S., Asadi-Pooya, A. A., Rubboli, Guido, Perucca, E. & Sperling, M. R., 2021, In: Epilepsia. 62, 1, p. 220-227 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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, , 2023, In: Clinical Genetics. 104, 2, p. 186-197Research output: Contribution to journal › Journal article › Research › peer-review
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum
Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denommé-Pichon, A. S., Coubes, C., Larson, A. & 30 others, , 2021, In: Neurology: Genetics. 7, 6, 14 p., e613.Research output: Contribution to journal › Journal article › Research › peer-review
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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-e2528Research output: Contribution to journal › Journal article › Research › peer-review
Perampanel as add-on treatment in refractory focal epilepsy. The Dianalund experience
Juhl, C. S. & Rubboli, Guido, 2016, In: Acta Neurologica Scandinavica. 134, 5, p. 374-377 4 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
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Perampanel in refractory epilepsies: what real-life experience tells us
Rubboli, Guido, 2017, In: Developmental Medicine and Child Neurology. 59, 4, p. 352-353Research output: Contribution to journal › Comment/debate › Research
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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
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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
ID: 119733516
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604
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The landscape of epilepsy-related GATOR1 variants
Research output: Contribution to journal › Journal article › Research › peer-review
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350
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Standardized computer-based organized reporting of EEG: SCORE - Second version
Research output: Contribution to journal › Journal article › Research › peer-review
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162
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Electromagnetic source imaging in presurgical workup of patients with epilepsy: A prospective study
Research output: Contribution to journal › Journal article › Research › peer-review
Published