title: Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.
authors.affiliation: Department of Neurology, Jagiellonian University Medical College, Krakow, Poland. Electronic address: pera@su.krakow.pl.
authors.forename: Joanna
authors.initials: J
authors.lastname: Pera
authors.affiliation: CeGaT GmbH, Tübingen, Germany.
authors.forename: Sarah
authors.initials: S
authors.lastname: Lechner
authors.affiliation: CeGaT GmbH, Tübingen, Germany.
authors.forename: Saskia
authors.initials: S
authors.lastname: Biskup
authors.affiliation: Department of Internal Medicine and Gerontology, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Strach
authors.affiliation: Department of Internal Medicine and Gerontology, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Grodzicki
authors.affiliation: Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Slowik
mesh_terms: D000328:Adult; D004265:DNA Helicases; D006801:Humans; D008297:Male; D064251:Multifunctional Enzymes; D009154:Mutation; D020365:RNA Helicases / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000151:congenital; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
chemical_list: D064251:Multifunctional Enzymes; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases
keywords: AOA2; Ataxia early onset; Neuropathy; Novel mutations; The SETX gene