Guido Rubboli
Clinical Professor
- 2023
- 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, , 2023, In: Annals of Neurology. 94, 2, p. 332-349Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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, , 2023, In: Clinical Genetics. 104, 2, p. 186-197Research output: Contribution to journal › Journal article › Research › peer-review
- 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
ID: 119733516
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603
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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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349
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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