Silvana Franceschetti

1. Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
   2012/05/17 by Katherine R. Smith, Katherine R. Smith, John Damiano +22 · 30 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · Neuroscience · #Amyotrophic Lateral Sclerosis Research #Genomics and Rare Diseases #Genetic Neurodegenerative Diseases
2. 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
3. Interrater agreement of classification of photoparoxysmal electroencephalographic response
   2020/09/01 by Sándor Beniczky, Harald Aurlien, Silvana Franceschetti +12 · 3 citations
   Medicine · Neuroscience · #Epilepsy research and treatment #EEG and Brain-Computer Interfaces #Blood Pressure and Hypertension Studies
4. Photosensitivity in Lafora and Unverricht–Lundborg progressive myoclonic epilepsies
   2026/07/25 by Laura Canafoglia, Lorella Pesce, Davide Caputo +11
   Medicine · #Glycogen Storage Diseases and Myoclonus #Neurological disorders and treatments #Sympathectomy and Hyperhidrosis Treatments