Guido Rubboli
- Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications
2021/08/25 by Katrine M Johannesen, Katrine M. Johannesen, Yuanyuan Liu +164 · 30 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genomics and Rare Diseases #Neurological disorders and treatments #Genetics and Neurodevelopmental Disorders
- Photic Reflex Myoclonus: A Neurophysiological Study in Progressive Myoclonus Epilepsies
1999/04/01 by Guido Rubboli, Stefano Meletti, Elena Gardella +7 · 5 citations
Medicine · #Glycogen Storage Diseases and Myoclonus #Neurological disorders and treatments #Parkinson's Disease and Spinal Disorders
- Suppressive Efficacy by a Commercially Available Blue Lens on PPR in 610 Photosensitive Epilepsy Patients
2006/03/01 by Giuseppe Capovilla, Antonio Gambardella, Guido Rubboli +15 · 6 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Connexins and lens biology #Photodynamic Therapy Research Studies
- Cenobamate as add‐on treatment for SCN8A developmental and epileptic encephalopathy
2025/01/15 by Cathrine E. Gjerulfsen, Madeleine J. Oudin, Francesca Furia +13 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Epilepsy research and treatment #Genomics and Rare Diseases #Metabolism and Genetic Disorders