Now showing items 1-5 of 5

    • Distribution, type, and origin of Parkin mutations: review and case studies 

      Hedrich K; Eskelson C; Wilmot B; Marder K; Harris J; Garrels J; Meija-Santana H; Vieregge P; Jacobs H; Bressman SB; Lang AE; Kann M; Abbruzzese G; Martinelli P; Schwinger E; Ozelius LJ; Pramstaller PP; Klein C; Kramer P (2004)
      Early-onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that ...
    • Early DEtection of wEaring off in Parkinson disease: the DEEP study 

      Stocchi F; Antonini A; Barone P; Tinazzi M; Zappia M; Onofrj M; Ruggieri S; Morgante L; Bonuccelli U; Lopiano L; Pramstaller P; Albanese A; Attar M; Posocco V; Colombo D; Abbruzzese G; DEEP study group (2014)
      OBJECTIVE: Assessing the frequency of Wearing-Off (WO) in Parkinson's disease (PD) patients, and its impact on Quality of Life (QoL). METHODS: Consecutive ambulatory patients, who were on dopaminergic treatment for ≥ 1 ...
    • PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism 

      Klein C; Djarmati A; Hedrich K; Schäfer N; Scaglione C; Marchese R; Kock N; Schüle B; Hiller A; Lohnau T; Winkler S; Wiegers K; Hering R; Bauer P; Riess O; Abbruzzese G; Martinelli P; Pramstaller PP (2005)
      Recessively inherited early-onset parkinsonism (EOP) has been associated with mutations in the Parkin, DJ-1, and PINK1 genes. We studied the prevalence of mutations in all three genes in 65 Italian patients (mean age of ...
    • Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? 

      Hedrich K; Pramstaller PP; Stübke K; Hiller A; Kabakci K; Purmann S; Kasten M; Scaglione C; Schwinger E; Volkmann J; Kostic V; Vieregge P; Martinelli P; Abbruzzese G; Klein C; Zühlke C (2005)
      Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation ...
    • The R98Q variation in DJ-1 represents a rare polymorphism 

      Hedrich K; Schäfer N; Hering R; Hagenah J; Lanthaler AJ; Schwinger E; Kramer PL; Ozelius LJ; Bressman SB; Abbruzzese G; Martinelli P; Kostic V; Pramstaller PP; Vieregge P; Riess O; Klein C (2004)