Patrizia Avoni

Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene

Rossella Medori, Hans-Juergen Tritschler, Andréa LeBlanc et al. · New England Journal of Medicine · 1992 · 606 citations · Full text

Skin nerve α-synuclein deposits

Vincenzo Donadio, Alex Incensi, Valentina Leta et al. · Neurology · 2014 · 281 citations

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

L. H. Eunson, Ruth Rea, Sameer M. Zuberi et al. · Annals of Neurology · 2000 · 255 citations

Genetics, Molecular Genetics, Disease Gene Identification +20

Syndromic parkinsonism and dementia associated with <scp> <i>OPA</i> </scp> <i>1</i> missense mutations

Valério Carelli, Olimpia Musumeci, Leonardo Caporali et al. · Annals of Neurology · 2015 · 184 citations · Full text

Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies

Pietro Cortelli, Daniela Perani, Pasquale Montagna et al. · Brain · 2006 · 144 citations

Fatal Familial Insomnia, Sleep Disorders, Neuropsychology +25