title: A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.
authors.forename: Anna
authors.initials: A
authors.lastname: De Rosa
authors.forename: Carla
authors.initials: C
authors.lastname: Carducci
authors.forename: Italo
authors.initials: I
authors.lastname: Antonozzi
authors.forename: Teresa
authors.initials: T
authors.lastname: Giovanniello
authors.forename: Evgjeni
authors.initials: E
authors.lastname: Xhoxhi
authors.forename: Chiara
authors.initials: C
authors.lastname: Criscuolo
authors.forename: Valeria
authors.initials: V
authors.lastname: Menchise
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis / Q000379:methods; D004295:Dihydroxyphenylalanine / Q000627:therapeutic use; D015259:Dopamine Agents / Q000627:therapeutic use; D004421:Dystonia / Q000188:drug therapy / Q000235:genetics*; D005192:Family Health; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D005973:Glutamine / Q000235:genetics; D006639:Histidine / Q000235:genetics; D006801:Humans; D009154:Mutation
chemical_list: D015259:Dopamine Agents; D005973:Glutamine; D006639:Histidine; D004295:Dihydroxyphenylalanine; D006136:GTP Cyclohydrolase