Now showing items 1-6 of 6

    • The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results 

      Pattaro C; Gögele M; Mascalzoni D; Melotti R; Schwienbacher C; De Grandi A; Foco L; D'Elia Y; Linder B; Fuchsberger C; Minelli C; Egger C; Kofink LS; Zanigni S; Schäfer T; Facheris MF; Smárason SV; Rossini A; Hicks AA; Weiss H; Pramstaller PP (2015)
      The Cooperative Health Research In South Tyrol (CHRIS) study is a population-based study with a longitudinal lookout to investigate the genetic and molecular basis of age-related common chronic conditions and their interaction ...
    • Dintor: functional annotation of genomic and proteomic data 

      Weichenberger CX; Blankenburg H; Palermo A; D'Elia Y; König E; Bernstein E; Domingues FS (2015)
      BACKGROUND: During the last decade, a great number of extremely valuable large-scale genomics and proteomics datasets have become available to the research community. In addition, dropping costs for conducting high-throughput ...
    • FamAgg: an R package to evaluate familial aggregation of traits in large pedigrees 

      Rainer J; Taliun D; D'Elia Y; Pattaro C; Domingues FS; Weichenberger CX (2016)
      Familial aggregation analysis is the first fundamental step to perform when assessing the extent of genetic background of a disease. However, there is a lack of software to analyze the familial clustering of complex ...
    • Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease 

      Ramos EM; Gillis T; Mysore JS; Lee JM; Gögele M; D'Elia Y; Pichler I; Sequeiros J; Pramstaller PP; Gusella JF; MacDonald ME; Alonso I (2015)
      Huntington's disease (HD) is a neurodegenerative disorder characterized by involuntary choreic movements, cognitive impairment, and behavioral changes, caused by the expansion of an unstable CAG repeat in HTT. We characterized ...
    • HDAC Inhibition Improves the Sarcoendoplasmic Reticulum Ca2+-ATPase Activity in Cardiac Myocytes 

      Meraviglia V; Bocchi L; Sacchetto R; Florio MC; Motta BM; Corti C; Weichenberger CX; Savi; D'Elia Y; Rosato-Siri MD; Suffredini S; Piubelli C; Pompilio G; Pramstaller PP; Domingues F; Rossini A; Stilli D (2018)
      SERCA2a is the Ca2+ ATPase playing the major contribution in cardiomyocyte (CM) calcium removal. Its activity can be regulated by both modulatory proteins and several post-translational modifications. The aim of the present ...
    • SNP-based linkage analysis in extended pedigrees: comparison between two alternative approaches 

      Saint-Pierre A; D'Elia Y; Ciullo M; Pramstaller PP; Pattaro C (2014)
      BACKGROUND: Linkage analysis on extended pedigrees is often challenged by the high computational demand of exact identity-by-descent (IBD) matrix reconstruction. When such an analysis becomes not feasible, two alternative ...