Now showing items 1-12 of 12

    • Adapted Finnish Migraine-Specific Questionnaire for family studies (FMSQ(FS)): a validation study in two languages 

      Facheris MF; Vogl FD; Hollmann S; Sixt G; Pattaro C; Schönhuber R; Pramstaller PP (2008)
      BACKGROUND AND PURPOSE: The hypothesis of a genetic component in the etiology of migraine is getting a foothold. However, to explore genetic associations, precision in clinical phenotypization is crucial. For this reason, ...
    • Association between restless legs syndrome and hypertension: a preliminary population-based study in South Tyrol, Italy 

      Giannini G; Zanigni S; Melotti R; Gögele M; Provini F; Facheris MF; Cortelli P; Pramstaller PP (2014)
      BACKGROUND AND PURPOSE: Restless legs syndrome (RLS) is a sleep-related movement disorder characterized by an irresistible urge to move the legs accompanied by paresthesia and/or dysesthesia that begins or worsens in the ...
    • Association between restless legs syndrome and migraine: a population-based study 

      Zanigni S; Giannini G; Melotti R; Pattaro C; Provini F; Cevoli S; Facheris MF; Cortelli P; Pramstaller PP (2014)
      BACKGROUND AND PURPOSE: A higher prevalence of restless legs syndrome (RLS) in migraineurs has been reported in clinical samples and in two large-scale clinical trials performed on healthcare workers but general ...
    • 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 ...
    • Copy number variation and association over T-cell receptor genes--influence of DNA source 

      Schwienbacher C; De Grandi A; Fuchsberger C; Facheris MF; Svaldi M; Wjst M; Pramstaller PP; Hicks AA (2010)
      Genomic copy number variants (CNVs) are a common, heritable source of inter-individual differences in genomic sequence. Their influence on phenotypic variability and their involvement in the pathogenesis of several common ...
    • Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes 

      Pichler I; Schwienbacher C; Zanon A; Fuchsberger C; Serafin A; Facheris MF; Marroni F; Pattaro C; Shen Y; Tellgren-Roth C; Gyllensten U; Gusella JF; Hicks AA; Pramstaller PP (2013)
      Restless legs syndrome (RLS) is a sleep-related movement disorder that affects up to 15 % of the population. Linkage studies have identified several genomic loci in single families (12q, 14q, 9p, 2q, 20p and 16p, respectively). ...
    • Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27 

      Volpato CB; De Grandi A; Gögele M; Taliun D; Fuchsberger C; Facheris MF; Minelli C; Pattaro C; Pramstaller PP; Hicks AA (2011)
      BACKGROUND: Thyroid hormones have important roles in growth, development and control of metabolism, and their dysregulation can lead to disease. OBJECTIVES: To identify genes contributing to hyperthyrotropinaemia. DESIGN, ...
    • A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants 

      Sharma M; Ioannidis JP; Aasly JO; Annesi G; Brice A; Bertram L; Bozi M; Barcikowska M; Crosiers D; Clarke CE; Facheris MF; Farrer M; Garraux G; Gispert S; Auburger G; Vilariño-Güell C; Hadjigeorgiou GM; Hicks AA; Hattori N; Jeon BS; Jamrozik Z; Krygowska-Wajs A; Lesage S; Lill CM; Lin JJ; Lynch T; Lichtner P; Lang AE; Libioulle C; Murata M; Mok V; Jasinska-Myga B; Mellick GD; Morrison KE; Meitnger T; Zimprich A; Opala G; Pramstaller PP; Pichler I; Park SS; Quattrone A; Rogaeva E; Ross OA; Stefanis L; Stockton JD; Satake W; Silburn PA; Strom TM; Theuns J; Tan EK; Toda T; Tomiyama H; Uitti RJ; Van Broeckhoven C; Wirdefeldt K; Wszolek Z; Xiromerisiou G; Yomono HS; Yueh KC; Zhao Y; Gasser T; Maraganore D; Krüger R; GEO-PD Consortium (2012)
      BACKGROUND: Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were ...
    • Overexpression of blood microRNAs 103a, 30b, and 29a in L-dopa-treated patients with PD 

      Serafin A; Foco L; Zanigni S; Blankenburg H; Picard A; Zanon A; Giannini G; Pichler I; Facheris MF; Cortelli P; Pramstaller PP; Hicks AA; Domingues FS; Schwienbacher C (2015)
      OBJECTIVE: The aims of the present study were to profile the expression of several candidate microRNAs (miRNAs) in blood from L-dopa-treated and drug-naive patients with Parkinson disease (PD) vs unaffected controls and ...
    • Plasma and White Blood Cells Show Different miRNA Expression Profiles in Parkinson's Disease 

      Schwienbacher C; Foco L; Picard A; Corradi E; Serafin A; Panzer J; Zanigni S; Blankenburg H; Facheris MF; Giannini G; Falla M; Cortelli P; Pramstaller PP; Hicks AA. (2017)
      Parkinson's disease (PD) diagnosis is based on the assessment of motor symptoms, which manifest when more than 50% of dopaminergic neurons are degenerated. To date, no validated biomarkers are available for the diagnosis ...
    • Pure akinesia as initial presentation of PSP: a clinicopathological study 

      Facheris MF; Maniak S; Scaravilli F; Schüle B; Klein C; Pramstaller PP (2008)
      Pure akinesia (PA) is a rare neurodegenerative condition that may represent a limited expression of progressive supranuclear palsy (PSP). Only a few pathological studies have been reported and its classification remains ...
    • Variation in the uric acid transporter gene SLC2A9 and its association with AAO of Parkinson's disease 

      Facheris MF; Hicks AA; Minelli C; Hagenah JM; Kostic V; Campbell S; Hayward C; Volpato CB; Pattaro C; Vitart V; Wright A; Campbell H; Klein C; Pramstaller PP (2011)
      Based on the observed inverse association between hyperuricemia and Parkinson's disease (PD) risk, the natural antioxidant activity of uric acid has been suggested to play a protective role. SLC2A9 has been indicated as ...