Sex-specific disease modifiers in juvenile myoclonic epilepsy
Shakeshaft, Amy, Panjwani, Naim, Collingwood, Amber, Crudgington, Holly, Hall, Anna, Andrade, Danielle M., Beier, Christoph P., Fong, Choong Yi, Gardella, Elena, Gesche, Joanna, Greenberg, David A., Hamandi, Khalid, Koht, Jeanette, Lim, Kheng Seang, Møller, Rikke S., Ng, Ching Ching, Orsini, Alessandro, Rees, Mark I., Rubboli, Guido, Selmer, Kaja K., Striano, Pasquale, Syvertsen, Marte, Thomas, Rhys H., Zarubova, Jana, Richardson, Mark P., Strug, Lisa J., Pal, Deb K.
Published in Scientific reports (21.02.2022)
Published in Scientific reports (21.02.2022)
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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
Ricos, Michael G., Hodgson, Bree L., Pippucci, Tommaso, Saidin, Akzam, Ong, Yeh Sze, Heron, Sarah E., Licchetta, Laura, Bisulli, Francesca, Bayly, Marta A., Hughes, James, Baldassari, Sara, Palombo, Flavia, Santucci, Margherita, Meletti, Stefano, Berkovic, Samuel F., Rubboli, Guido, Thomas, Paul Q., Scheffer, Ingrid E., Tinuper, Paolo, Geoghegan, Joel, Schreiber, Andreas W., Dibbens, Leanne M.
Published in Annals of neurology (01.01.2016)
Published in Annals of neurology (01.01.2016)
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Editorial: SLC6A1: the past, present and future
Johannesen, Katrine M., Pérez-Palma, Eduardo, Rubboli, Guido
Published in Frontiers in neuroscience (12.10.2023)
Published in Frontiers in neuroscience (12.10.2023)
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Management of Antiepileptic Treatment After Epilepsy Surgery - Practices and Problems
Rubboli, Guido, Sabers, Anne, Uldall, Peter, Malmgren, Kristina
Published in Current pharmaceutical design (01.01.2017)
Published in Current pharmaceutical design (01.01.2017)
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Journal Article
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders
Bayat, Allan, Iqbal, Sumaiya, Borredy, Kim, Amiel, Jeanne, Zweier, Christiane, Barcia, Guilia, Kraus, Cornelia, Weyhreter, Heike, Bassuk, Alexander G, Chopra, Maya, Rubboli, Guido, Møller, Rikke S
Published in European journal of human genetics : EJHG (01.08.2021)
Published in European journal of human genetics : EJHG (01.08.2021)
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Journal Article
Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders
Döring, Jan H, Schröter, Julian, Jüngling, Jerome, Biskup, Saskia, Klotz, Kerstin A, Bast, Thomas, Dietel, Tobias, Korenke, G Christoph, Christoph, Sophie, Brennenstuhl, Heiko, Rubboli, Guido, Møller, Rikke S, Lesca, Gaetan, Chaix, Yves, Kölker, Stefan, Hoffmann, Georg F, Lemke, Johannes R, Syrbe, Steffen
Published in International journal of molecular sciences (10.03.2021)
Published in International journal of molecular sciences (10.03.2021)
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Journal Article
Epilepsy surgery of “low grade epilepsy associated neuroepithelial tumors”: A retrospective nationwide Italian study
Giulioni, Marco, Marucci, Gianluca, Pelliccia, Veronica, Gozzo, Francesca, Barba, Carmen, Didato, Giuseppe, Villani, Flavio, Di Gennaro, Giancarlo, Quarato, Pier Paolo, Esposito, Vincenzo, Consales, Alessandro, Martinoni, Matteo, Vornetti, Gianfranco, Zenesini, Corrado, Efisio Marras, Carlo, Specchio, Nicola, Palma, Luca, Rocchi, Raffaele, Giordano, Flavio, Tringali, Giovanni, Nozza, Paolo, Colicchio, Gabriella, Rubboli, Guido, Lo Russo, Giorgio, Guerrini, Renzo, Tinuper, Paolo, Cardinale, Francesco, Cossu, Massimo
Published in Epilepsia (Copenhagen) (01.11.2017)
Published in Epilepsia (Copenhagen) (01.11.2017)
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Facial emotion recognition impairment in chronic temporal lobe epilepsy
Meletti, Stefano, Benuzzi, Francesca, Cantalupo, Gaetano, Rubboli, Guido, Tassinari, Carlo Alberto, Nichelli, Paolo
Published in Epilepsia (Copenhagen) (01.06.2009)
Published in Epilepsia (Copenhagen) (01.06.2009)
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Journal Article
The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 2)
Koutroumanidis, Michalis, Arzimanoglou, Alexis, Caraballo, Roberto, Goyal, Sushma, Kaminska, Anna, Laoprasert, Pramote, Oguni, Hirokazu, Rubboli, Guido, Tatum, William, Thomas, Pierre, Trinka, Eugen, Vignatelli, Luca, Moshé, Solomon L.
Published in Epileptic disorders (01.12.2017)
Published in Epileptic disorders (01.12.2017)
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Neurophysiology of myoclonus and progressive myoclonus epilepsies
Avanzini, Giuliano, Shibasaki, Hiroshi, Rubboli, Guido, Canafoglia, Laura, Panzica, Ferruccio, Franceschetti, Silvana, Hallett, Mark
Published in Epileptic disorders (01.09.2016)
Published in Epileptic disorders (01.09.2016)
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Intrafamilial variability in SLC6A1 -related neurodevelopmental disorders
Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt, Anja, Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S, Johannesen, Katrine M, Rubboli, Guido
Published in Frontiers in neuroscience (12.07.2023)
Published in Frontiers in neuroscience (12.07.2023)
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Journal Article
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity
Rychkov, Grigori Y, Shaukat, Zeeshan, Lim, Chiao Xin, Hussain, Rashid, Roberts, Ben J, Bonardi, Claudia M, Rubboli, Guido, Meaney, Brandon F, Whitney, Robyn, Møller, Rikke S, Ricos, Michael G, Dibbens, Leanne M
Published in International journal of molecular sciences (01.12.2022)
Published in International journal of molecular sciences (01.12.2022)
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Standardized Computer‐based Organized Reporting of EEG: SCORE
Beniczky, Sándor, Aurlien, Harald, Brøgger, Jan C., Fuglsang‐Frederiksen, Anders, Martins‐da‐Silva, António, Trinka, Eugen, Visser, Gerhard, Rubboli, Guido, Hjalgrim, Helle, Stefan, Hermann, Rosén, Ingmar, Zarubova, Jana, Dobesberger, Judith, Alving, Jørgen, Andersen, Kjeld V., Fabricius, Martin, Atkins, Mary D., Neufeld, Miri, Plouin, Perrine, Marusic, Petr, Pressler, Ronit, Mameniskiene, Ruta, Hopfengärtner, Rüdiger, Emde Boas, Walter, Wolf, Peter
Published in Epilepsia (01.06.2013)
Published in Epilepsia (01.06.2013)
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Journal Article
Conference Proceeding
The new ILAE seizure classification: 63 seizure types?
Beniczky, Sándor, Rubboli, Guido, Aurlien, Harald, Hirsch, Lawrence J., Trinka, Eugen, Schomer, Donald L.
Published in Epilepsia (Copenhagen) (01.07.2017)
Published in Epilepsia (Copenhagen) (01.07.2017)
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Pathophysiology of epileptic encephalopathies
Lado, Fred A., Rubboli, Guido, Capovilla, Pippo, Avanzini, Giuliano, Moshé, Solomon L.
Published in Epilepsia (Copenhagen) (01.11.2013)
Published in Epilepsia (Copenhagen) (01.11.2013)
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Identification of miRNAs differentially expressed in human epilepsy with or without granule cell pathology
Zucchini, Silvia, Marucci, Gianluca, Paradiso, Beatrice, Lanza, Giovanni, Roncon, Paolo, Cifelli, Pierangelo, Ferracin, Manuela, Giulioni, Marco, Michelucci, Roberto, Rubboli, Guido, Simonato, Michele
Published in PloS one (22.08.2014)
Published in PloS one (22.08.2014)
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The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders
Johannesen, Katrine M., Nielsen, Jimmi, Sabers, Anne, Isidor, Bertrand, Kattentidt-Mouravieva, Anja A., Zieglgänsberger, Dominik, Heidlebaugh, Alexis R., Oetjens, Kathryn F., Vidal, Anna Abuli, Christensen, Jakob, Tiller, Jacob, Freed, Amber N., Møller, Rikke S., Rubboli, Guido
Published in Frontiers in neuroscience (17.08.2023)
Published in Frontiers in neuroscience (17.08.2023)
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Journal Article
Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido
Published in Frontiers in neuroscience (11.08.2023)
Published in Frontiers in neuroscience (11.08.2023)
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