Now showing items 21-40 of 420

    • Apoptosis and inflammatory response in human astrocytes are induced by a transmissible cytotoxic agent of neurological origin 

      Beretti F; Ardizzoni A; Cermelli C; Guida M; Maraldi T; Pietrosemoli P; Paulone S; De Pol A; Blasi E; Portolani M (2017)
      We demonstrated the presence of an in vitro transmissible cytotoxic agent (TCA) in the cerebrospinal fluid (CSF) of patients with different acute neurological diseases. The nature of this agent is still a matter of study ...
    • The arachidonic acid metabolome serves as a conserved regulator of cholesterol metabolism 

      Demetz E; Schroll A; Auer K; Heim C; Patsch JR; Eller P; Theurl M; Theurl I; Seifert M; Lener D; Stanzl U; Haschka D; Asshoff M; Dichtl S; Nairz M; Huber E; Stadlinger M; Moschen AR; Li X; Pallweber P; Scharnagl H; Stojakovic T; März W; Kleber ME; Garlaschelli K; Uboldi P; Catapano AL; Stellaard F; Rudling M; Kuba K; Imai Y; Arita M; Schuetz JD; Pramstaller PP; Tietge UJ; Trauner M; Norata GD; Claudel T; Hicks AA; Weiss G; Tancevski I (2014)
      Cholesterol metabolism is closely interrelated with cardiovascular disease in humans. Dietary supplementation with omega-6 polyunsaturated fatty acids including arachidonic acid (AA) was shown to favorably affect plasma ...
    • Are Requirements to Deposit Data in Research Repositories Compatible With the European Union's General Data Protection Regulation? 

      Mascalzoni D; Bentzen HB; Budin-Ljosne I; Bygrave LA; Bell J; Dove ES; Fuchsberger C; Hveem K; Mayrhofer MT; Meraviglia V; O'Brien DR; Pattaro C; Pramstaller PP; Rakic V; Rossini A; Shabani M; Svantesson DJB; Tomasi M; Ursin L; Wjst M; Kaye J (2019)
    • The arrhythmogenic cardiomyopathy-specific coding and non-coding transcriptome in human cardiac stromal cells 

      Rainer J; Meraviglia V; Blankenburg H; Piubelli C; Pramstaller PP; Paolin A; Cogliati E; Pompilio G; Sommariva E; Domingues FS; Rossini A (2018)
      BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is a genetic autosomal disease characterized by abnormal cell-cell adhesion, cardiomyocyte death, progressive fibro-adipose replacement of the myocardium, arrhythmias and ...
    • Assessing the suitability of summary data for two-sample Mendelian randomization analyses using MR-Egger regression: the role of the I2 statistic 

      Bowden J; Del Greco M F; Minelli C; Davey Smith G; Sheehan NA; Thompson JR (2016)
      Background: : MR-Egger regression has recently been proposed as a method for Mendelian randomization (MR) analyses incorporating summary data estimates of causal effect from multiple individual variants, which is robust ...
    • 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 ...
    • Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study 

      Fox ER; Young JH; Li Y; Dreisbach AW; Keating BJ; Musani SK; Liu K; Morrison AC; Ganesh S; Kutlar A; Ramachandran VS; Polak JF; Fabsitz RR; Dries DL; Farlow DN; Redline S; Adeyemo A; Hirschorn JN; Sun YV; Wyatt SB; Penman AD; Palmas W; Rotter JI; Townsend RR; Doumatey AP; Tayo BO; Mosley TH; Lyon HN; Kang SJ; Rotimi CN; Cooper RS; Franceschini N; Curb JD; Martin LW; Eaton CB; Kardia SL; Taylor HA; Caulfield MJ; Ehret GB; Johnson T; International Consortium for Blood Pressure Genome-wide Association Studies (ICBP-GWAS); Chakravarti A; Zhu X; Levy D (2011)
      The prevalence of hypertension in African Americans (AAs) is higher than in other US groups; yet, few have performed genome-wide association studies (GWASs) in AA. Among people of European descent, GWASs have identified ...
    • ATP13A2 variants in early-onset Parkinson's disease patients and controls 

      Djarmati A; Hagenah J; Reetz K; Winkler S; Behrens MI; Pawlack H; Lohmann K; Ramirez A; Tadić V; Brüggemann N; Berg D; Siebner HR; Lang AE; Pramstaller PP; Binkofski F; Kostić VS; Volkmann J; Gasser T; Klein C (2009)
      Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a ...
    • Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles 

      Dharuri H; Henneman P; Demirkan A; van Klinken JB; Mook-Kanamori DO; Wang-Sattler R; Gieger C; Adamski J; Hettne K; Roos M; Suhre K; van Duijn CM; EUROSPAN Consortia; van Dijk KW; 't Hoen PA (2013)
      BACKGROUND: Genome-wide association studies (GWAS) have identified many common single nucleotide polymorphisms (SNPs) that associate with clinical phenotypes, but these SNPs usually explain just a small part of the ...
    • Autosomal dominant Parkinson's disease in a large German pedigree 

      Brüggemann N; Külper W; Hagenah J; Bauer P; Pattaro C; Tadic V; Lohnau T; Winkler S; Tönnies H; Sprenger A; Pramstaller P; Rolfs A; Siebert R; Riess O; Vieregge P; Lohmann K; Klein C (2012)
      OBJECTIVE: While several genes have been identified to cause Parkinson's disease (PD), monogenic forms explain only a small proportion of cases. We report clinical and genetic results in a large family with late-onset ...
    • Bayesian analysis of censored response data in family-based genetic association studies 

      Del Greco M F; Pattaro C; Minelli C; Thompson JR (2016)
      Biomarkers are subject to censoring whenever some measurements are not quantifiable given a laboratory detection limit. Methods for handling censoring have received less attention in genetic epidemiology, and censored data ...
    • Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis 

      Stahl EA; Wegmann D; Trynka G; Gutierrez-Achury J; Do R; Voight BF; Kraft P; Chen R; Kallberg HJ; Kurreeman FA; DIAGRAM Consortium; Myocardial Infarction Genetics Consortium; Kathiresan S; Wijmenga C; Gregersen PK; Alfredsson L; Siminovitch KA; Worthington J; de Bakker PI; Raychaudhuri S; Plenge RM (2012)
      The genetic architectures of common, complex diseases are largely uncharacterized. We modeled the genetic architecture underlying genome-wide association study (GWAS) data for rheumatoid arthritis and developed a new method ...
    • BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study 

      Karamohamed S; Latourelle JC; Racette BA; Perlmutter JS; Wooten GF; Lew M; Klein C; Shill H; Golbe LI; Mark MH; Guttman M; Nicholson G; Wilk JB; Saint-Hilaire M; DeStefano AL; Prakash R; Tobin S; Williamson J; Suchowersky O; Labell N; Growdon BN; Singer C; Watts R; Goldwurm S; Pezzoli G; Baker KB; Giroux ML; Pramstaller PP; Burn DJ; Chinnery P; Sherman S; Vieregge P; Litvan I; Gusella JF; Myers RH; Parsian A (2005)
      Brain-derived neurotrophic factor (BDNF) stimulates neuronal growth and protects nigral dopamine neurons in animal models of Parkinson disease (PD). Therefore, BDNF is a candidate gene for PD. The authors investigated five ...
    • Biological interpretation of genome-wide association studies using predicted gene functions 

      Pers TH; Karjalainen JM; Chan Y; Westra HJ; Wood AR; Yang J; Lui JC; Vedantam S; Gustafsson S; Esko T; Frayling T; Speliotes EK; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Boehnke M; Raychaudhuri S; Fehrmann RS; Hirschhorn JN; Franke L (2015)
      The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions ...
    • Biological, clinical and population relevance of 95 loci for blood lipids 

      Teslovich TM; Musunuru K; Smith AV; Edmondson AC; Stylianou IM; Koseki M; Pirruccello JP; Ripatti S; Chasman DI; Willer CJ; Johansen CT; Fouchier SW; Isaacs A; Peloso GM; Barbalic M; Ricketts SL; Bis JC; Aulchenko YS; Thorleifsson G; Feitosa MF; Chambers J; Orho-Melander M; Melander O; Johnson T; Li X; Guo X; Li M; Shin Cho Y; Jin Go M; Jin Kim Y; Lee JY; Park T; Kim K; Sim X; Twee-Hee Ong R; Croteau-Chonka DC; Lange LA; Smith JD; Song K; Hua Zhao J; Yuan X; Luan J; Lamina C; Ziegler A; Zhang W; Zee RY; Wright AF; Witteman JC; Wilson JF; Willemsen G; Wichmann HE; Whitfield JB; Waterworth DM; Wareham NJ; Waeber G; Vollenweider P; Voight BF; Vitart V; Uitterlinden AG; Uda M; Tuomilehto J; Thompson JR; Tanaka T; Surakka I; Stringham HM; Spector TD; Soranzo N; Smit JH; Sinisalo J; Silander K; Sijbrands EJ; Scuteri A; Scott J; Schlessinger D; Sanna S; Salomaa V; Saharinen J; Sabatti C; Ruokonen A; Rudan I; Rose LM; Roberts R; Rieder M; Psaty BM; Pramstaller PP; Pichler I; Perola M; Penninx BW; Pedersen NL; Pattaro C; Parker AN; Pare G; Oostra BA; O'Donnell CJ; Nieminen MS; Nickerson DA; Montgomery GW; Meitinger T; McPherson R; McCarthy MI; McArdle W; Masson D; Martin NG; Marroni F; Mangino M; Magnusson PK; Lucas G; Luben R; Loos RJ; Lokki ML; Lettre G; Langenberg C; Launer LJ; Lakatta EG; Laaksonen R; Kyvik KO; Kronenberg F; König IR; Khaw KT; Kaprio J; Kaplan LM; Johansson A; Jarvelin MR; Janssens AC; Ingelsson E; Igl W; Kees Hovingh G; Hottenga JJ; Hofman A; Hicks AA; Hengstenberg C; Heid IM; Hayward C; Havulinna AS; Hastie ND; Harris TB; Haritunians T; Hall AS; Gyllensten U; Guiducci C; Groop LC; Gonzalez E; Gieger C; Freimer NB; Ferrucci L; Erdmann J; Elliott P; Ejebe KG; Döring A; Dominiczak AF; Demissie S; Deloukas P; de Geus EJ; de Faire U; Crawford G; Collins FS; Chen YD; Caulfield MJ; Campbell H; Burtt NP; Bonnycastle LL; Boomsma DI; Boekholdt SM; Bergman RN; Barroso I; Bandinelli S; Ballantyne CM; Assimes TL; Quertermous T; Altshuler D; Seielstad M; Wong TY; Tai ES; Feranil AB; Kuzawa CW; Adair LS; Taylor HA; Borecki IB; Gabriel SB; Wilson JG; Holm H; Thorsteinsdottir U; Gudnason V; Krauss RM; Mohlke KL; Ordovas JM; Munroe PB; Kooner JS; Tall AR; Hegele RA; Kastelein JJ; Schadt EE; Rotter JI; Boerwinkle E; Strachan DP; Mooser V; Stefansson K; Reilly MP; Samani NJ; Schunkert H; Cupples LA; Sandhu MS; Ridker PM; Rader DJ; van Duijn CM; Peltonen L; Abecasis GR; Boehnke M; Kathiresan S (2010)
      Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are ...
    • Biomarkers defining the metabolic age of red blood cells during cold storage 

      Paglia G; D'Alessandro A; Rolfsson Ó; Sigurjónsson ÓE; Bordbar A; Palsson S; Nemkov T; Hansen KC; Gudmundsson S; Palsson BO (2016)
      Metabolomic investigations of packed red blood cells (RBCs) stored under refrigerated conditions in saline adenine glucose mannitol (SAGM) additives have revealed the presence of 3 distinct metabolic phases, occurring on ...
    • Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations 

      Helmchen C; Schwekendiek A; Pramstaller PP; Hedrich K; Klein C; Rambold H (2006)
      We investigated saccades, eyelid blinks, and their interaction in symptomatic (n = 22) and asymptomatic (n = 31) subjects with (n = 19) and without (n = 34) Parkin mutations. Saccadic hypometria was correlated with clinical ...
    • Brain parenchyma sonography detects preclinical parkinsonism 

      Walter U; Klein C; Hilker R; Benecke R; Pramstaller PP; Dressler D (2004)
      Substantia nigra (SN) hyperechogenicity on brain parenchyma sonography (BPS) is highly characteristic for idiopathic PD. We studied 7 symptomatic and 7 asymptomatic parkin mutation carriers (PMC) from a large kindred with ...
    • Buprenorphine in maintenance treatment: experience among Italian physicians in drug addiction centers 

      Quaglio G; Pattaro C; Gerra G; Mezzelani P; Montanari L; Jarlais DC; Lugoboni F (2010)
      The aim of this study was to assess the attitudes of Italian physicians regarding buprenorphine and its clinical use approximately 6 years after the medication was introduced into clinical practice. The sample consisted ...