Silvana Franceschetti

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John A. Damiano, Silvana Franceschetti et al. · The American Journal of Human Genetics · 2012 · 479 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +15

Randomized phase III study 306

Gregory L. Krauss, José M. Serratosa, Vicente Villanueva et al. · Neurology · 2012 · 424 citations

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 311 citations · Full text

Genetics, Neuroscience, Central Nervous System +3

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Identification of an Na _v 1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

Massimo Mantegazza, Antonio Gambardella, Raffaella Rusconi et al. · Proceedings of the National Academy of Sciences · 2005 · 195 citations · Full text