title: A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease.
authors.affiliation: Department of Neurology, San Gerardo Hospital, University of Milano-Bicocca , Monza.
authors.forename: Enrico
authors.initials: E
authors.lastname: Saracchi
authors.forename: Marianna
authors.initials: M
authors.lastname: Castelli
authors.forename: Maria T
authors.initials: MT
authors.lastname: Bassi
authors.forename: Erika
authors.initials: E
authors.lastname: Brighina
authors.forename: Diletta
authors.initials: D
authors.lastname: Cereda
authors.forename: Laura
authors.initials: L
authors.lastname: Marzorati
authors.forename: Mirko
authors.initials: M
authors.lastname: Patassini
authors.forename: Ildebrando
authors.initials: I
authors.lastname: Appollonio
authors.forename: Carlo
authors.initials: C
authors.lastname: Ferrarese
authors.forename: Laura
authors.initials: L
authors.lastname: Brighina
mesh_terms: D001284:Atrophy / Q000209:etiology; D002531:Cerebellum / Q000473:pathology; D002819:Chorea / Q000150:complications / Q000235:genetics*; D004265:DNA Helicases; D004252:DNA Mutational Analysis; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000150:complications / Q000235:genetics*; D064251:Multifunctional Enzymes; D009154:Mutation / Q000235:genetics*; D020365:RNA Helicases / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology
chemical_list: D064251:Multifunctional Enzymes; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases