Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers
MetadataShow full item record
Showing items related by title, author, creator and subject.
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease Hedrich K; Djarmati A; Schäfer N; Hering R; Wellenbrock C; Weiss PH; Hilker R; Vieregge P; Ozelius LJ; Heutink P; Bonifati V; Schwinger E; Lang AE; Noth J; Bressman SB; Pramstaller PP; Riess O; Klein C (2004)BACKGROUND: Mutations in the Parkin gene (PARK2) are the most commonly identified cause of recessively inherited early-onset Parkinson disease (EOPD) but account for only a portion of cases. DJ-1 (PARK7) was recently ...
Kabakci K; Hedrich K; Leung JC; Mitterer M; Vieregge P; Lencer R; Hagenah J; Garrels J; Witt K; Klostermann F; Svetel M; Friedman J; Kostic V; Bressman SB; Breakefield XO; Ozelius LJ; Pramstaller PP; Klein C (2004)BACKGROUND: Most cases of early-onset primary torsion dystonia (PTD) are caused by the same three-base pair (bp) (GAG) deletion in the DYT1 gene. Exon rearrangements are a common mutation type in other genes and have not ...
Weissbach A; König IR; Hückelheim K; Pramstaller PP; Werner E; Brüggemann N; Tadic V; Lohmann K; Bäumer T; Münchau A; Kasten M; Klein C (2017)INTRODUCTION: A latent nigrostriatal deficit and its possible clinical consequences in asymptomatic heterozygous Parkin and PINK1 mutation carriers (AMC) have been a matter of investigation in recent years. Notably, mild ...