Publikationer pr. år
Publikationer pr. år
- 8 resultater
Søgeresultater
-
2024
Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions
Kofoed, A. W. S., Kristiansen, S. S., Miranda, M. J., Rubboli, G. & Johannesen, K. M., 2024, I: Clinical Genetics. 106, 4, s. 386-393 8 s.Publikation: Bidrag til tidsskrift › Review › Forskning › peer review
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Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy
Gjerulfsen, C. E., Krey, I., Klöckner, C., Rubboli, G., Lemke, J. R. & Møller, R. S., 2024, I: Methods in molecular biology (Clifton, N.J.). 2799, s. 1-11 11 s.Publikation: Bidrag til tidsskrift › Review › Forskning › peer review
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2023
Encephalopathy related to status epilepticus during slow sleep (ESES). Pathophysiological insights and nosological considerations
Rubboli, G., Gardella, E., Cantalupo, G. & Alberto Tassinari, C., 2023, I: Epilepsy and Behavior. 140, 109105.Publikation: Bidrag til tidsskrift › Review › Forskning › peer review
10 Citationer (Scopus) -
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, 2023, I: Brain Communications. 5, 3, 18 s., fcad182.Publikation: Bidrag til tidsskrift › Review › Forskning › peer review
Åben adgangFil6 Citationer (Scopus)9 Downloads (Pure) -
2022
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy
Amadori, E., Pellino, G., Bansal, L., Mazzone, S., Møller, R. S., Rubboli, G., Striano, P. & Russo, A., 2022, I: European Journal of Medical Genetics. 65, 4, 104450.Publikation: Bidrag til tidsskrift › Review › Forskning › peer review
11 Citationer (Scopus) -
2021
Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy
Bayat, A., Bayat, M., Rubboli, G. & Møller, R. S., 2021, I: Genes. 12, 7, 1051.Publikation: Bidrag til tidsskrift › Review › Forskning › peer review
Åben adgangFil50 Citationer (Scopus)16 Downloads (Pure) -
2020
Standard procedures for the diagnostic pathway of sleep-related epilepsies and comorbid sleep disorders: A European Academy of Neurology, European Sleep Research Society and International League against Epilepsy-Europe consensus review
Nobili, L., de Weerd, A., Rubboli, G., Beniczky, S., Derry, C., Eriksson, S., Halasz, P., Högl, B., Santamaria, J., Khatami, R., Ryvlin, P., Rémi, J., Tinuper, P., Bassetti, C., Manni, R., Koutroumanidis, M. & Vignatelli, L., dec. 2020, I: Journal of Sleep Research. 29, 6, 18 s., e13184.Publikation: Bidrag til tidsskrift › Review › Forskning › peer review
13 Citationer (Scopus) -
2016
GOSR2: a progressive myoclonus epilepsy gene
Dibbens, L. M. & Rubboli, G., 2016, I: Epileptic Disorders. 18, Suppl. 2, s. S111-S114Publikation: Bidrag til tidsskrift › Review › Forskning › peer review
23 Citationer (Scopus)