title: Clinical, ultrastructural, and molecular studies in a patient with Kufs disease.
authors.affiliation: IRCCS Stella Maris, Pisa, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Moro
authors.forename: Floriana
authors.initials: F
authors.lastname: Gismondi
authors.forename: Francesco
authors.initials: F
authors.lastname: Pezzini
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Simonati
mesh_terms: D000328:Adult; D050956:HSP40 Heat-Shock Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009197:Myenteric Plexus / Q000648:ultrastructure; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis*
chemical_list: D050956:HSP40 Heat-Shock Proteins; D008565:Membrane Proteins; C088460:cysteine string protein