title: A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2.
authors.affiliation: Department of Neurology, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary.
authors.forename: Laszlo
authors.initials: L
authors.lastname: Szpisjak
authors.affiliation: Department of Neurology, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary.
authors.forename: Izabella
authors.initials: I
authors.lastname: Obal
authors.affiliation: Department of Neurology, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary.
authors.forename: Jozsef I
authors.initials: JI
authors.lastname: Engelhardt
authors.affiliation: Department of Neurology, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary.|MTA-SZTE Neuroscience Research Group, Szeged, Hungary.
authors.forename: Laszlo
authors.initials: L
authors.lastname: Vecsei
authors.affiliation: Department of Neurology, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary. klivenyi.peter@med.u-szeged.hu.
authors.forename: Peter
authors.initials: P
authors.lastname: Klivenyi
mesh_terms: D000328:Adult; D004265:DNA Helicases; D005260:Female; D006801:Humans; D064251:Multifunctional Enzymes; D060885:Multiplex Polymerase Chain Reaction; D020125:Mutation, Missense; D020365:RNA Helicases / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000235:genetics
chemical_list: D064251:Multifunctional Enzymes; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases
keywords: Ataxia with oculomotor apraxia type 2; Early-onset ataxia; Novel senataxin mutation