Trenkwalder, Claudia

[["dc.bibliographiccitation.journal","SLEEP"],["dc.bibliographiccitation.volume","30"],["dc.contributor.author","Happe, Svenja"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.contributor.author","Peglau, Ines"],["dc.contributor.author","Mayer, G."],["dc.contributor.author","Giani, Guido"],["dc.contributor.author","Geraedts, Max"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Dodel, R."],["dc.date.accessioned","2018-11-07T11:07:35Z"],["dc.date.available","2018-11-07T11:07:35Z"],["dc.date.issued","2007"],["dc.format.extent","A281"],["dc.identifier.isi","000246224900820"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52601"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Academy Sleep Medicine"],["dc.publisher.place","Westchester"],["dc.relation.conference","21st Annual Meeting of the Association-Professional-Sleep-Societies"],["dc.relation.eventlocation","Minneapolis, MN"],["dc.relation.issn","0161-8105"],["dc.title","Direct and indirect costs of restless legs syndrome (RLS)"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","946"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Nature Genetics"],["dc.bibliographiccitation.lastpage","948"],["dc.bibliographiccitation.volume","40"],["dc.contributor.author","Schormair, Barbara"],["dc.contributor.author","Kemlink, David"],["dc.contributor.author","Roeske, Darina"],["dc.contributor.author","Eckstein, Gertrud"],["dc.contributor.author","Xiong, Lan"],["dc.contributor.author","Lichtner, Peter"],["dc.contributor.author","Ripke, Stephan"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Zimprich, Alexander"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.contributor.author","Oertel, Wolfgang"],["dc.contributor.author","Bachmann, Cornelius G."],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Hoegl, Birgit"],["dc.contributor.author","Frauscher, Birgit"],["dc.contributor.author","Gschliesser, Viola"],["dc.contributor.author","Poewe, Werner"],["dc.contributor.author","Peglau, Ines"],["dc.contributor.author","Vodicka, Pavel"],["dc.contributor.author","Vavrova, Jana"],["dc.contributor.author","Sonka, Karel"],["dc.contributor.author","Nevsimalova, Sona"],["dc.contributor.author","Montplaisir, Jacques"],["dc.contributor.author","Turecki, Gustavo"],["dc.contributor.author","Rouleau, Guy A."],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Illig, Thomas"],["dc.contributor.author","Wichmann, H-Erich"],["dc.contributor.author","Holsboer, Florian"],["dc.contributor.author","Mueller-Myhsok, Bertram"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Winkelmann, Juliane"],["dc.date.accessioned","2018-11-07T11:12:40Z"],["dc.date.available","2018-11-07T11:12:40Z"],["dc.date.issued","2008"],["dc.description.abstract","We identified association of restless legs syndrome (RLS) with PTPRD at 9p23-24 in 2,458 affected individuals and 4,749 controls from Germany, Austria, Czechia and Canada. Two independent SNPs in the 5' UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values (rs4626664, P(nominal/lambda corrected) = 5.91 x 10(-10), odds ratio (OR) = 1.44; rs1975197, P(nominal/lambda corrected) = 5.81 x 10(-9), OR 1.31). This work identifies PTPRD as the fourth genome-wide significant locus for RLS."],["dc.identifier.doi","10.1038/ng.190"],["dc.identifier.isi","000258026900008"],["dc.identifier.pmid","18660810"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/53717"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1061-4036"],["dc.title","PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","230"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Journal of Neurology"],["dc.bibliographiccitation.lastpage","237"],["dc.bibliographiccitation.volume","257"],["dc.contributor.author","Hoegl, Birgit"],["dc.contributor.author","Garcia-Borreguero, Diego"],["dc.contributor.author","Kohnen, Ralf"],["dc.contributor.author","Ferini-Strambi, Luigi"],["dc.contributor.author","Hadjigeorgiou, Georgios M."],["dc.contributor.author","Hornyak, Magdolna"],["dc.contributor.author","de Weerd, A. L."],["dc.contributor.author","Happe, Svenja"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.contributor.author","Gschliesser, Viola"],["dc.contributor.author","Egatz, Renata"],["dc.contributor.author","Frauscher, Birgit"],["dc.contributor.author","Benes, Heike"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Hening, Wayne A."],["dc.contributor.author","Allen, Richard P."],["dc.date.accessioned","2018-11-07T08:46:22Z"],["dc.date.available","2018-11-07T08:46:22Z"],["dc.date.issued","2010"],["dc.description.abstract","The European Restless Legs Syndrome (RLS) Study Group performed the first multi-center, long-term study systematically evaluating RLS augmentation under levodopa treatment. This prospective, open-label 6-month study was conducted in six European countries and included 65 patients (85% treatment naive) with idiopathic RLS. Levodopa was flexibly up-titrated to a maximum dose of 600 mg/day. Presence of augmentation was diagnosed independently by two international experts using established criteria. In addition to the augmentation severity rating scale (ASRS), changes in RLS severity (International RLS severity rating scale (IRLS), clinical global impression (CGI)) were analyzed. Sixty patients provided evaluable data, 35 completed the trial and 25 dropped out. Augmentation occurred in 60% (36/60) of patients, causing 11.7% (7/60) to drop out. Median time to occurrence of augmentation was 71 days. The mean maximum dose of levodopa was 311 mg/day (SD: 105). Patients with augmentation compared to those without were significantly more likely to be on higher doses of levodopa (a parts per thousand yen300 mg, 83 vs. 54%, P = 0.03) and to show less improvement of symptom severity (IRLS, P = 0.039). Augmentation was common with levodopa, but could be tolerated by most patients during this 6-month trial. Patients should be followed over longer periods to determine if dropout rates increase with time."],["dc.description.sponsorship","Pharmacia (now Pfizer) USA"],["dc.identifier.doi","10.1007/s00415-009-5299-8"],["dc.identifier.isi","000274251700011"],["dc.identifier.pmid","19756826"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6747"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/20677"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","Heidelberg"],["dc.relation.issn","0340-5354"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Progressive development of augmentation during long-term treatment with levodopa in restless legs syndrome: results of a prospective multi-center study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","S495"],["dc.bibliographiccitation.journal","Movement Disorders"],["dc.bibliographiccitation.lastpage","S504"],["dc.bibliographiccitation.volume","22"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Kohnen, Ralf"],["dc.contributor.author","Allen, Richard P."],["dc.contributor.author","Benes, Heike"],["dc.contributor.author","Ferini-Strambi, Luigi"],["dc.contributor.author","Garcia-Borreguero, Diego"],["dc.contributor.author","Hadjigeorgiou, Georgios M."],["dc.contributor.author","Happe, Svenja"],["dc.contributor.author","Hoegl, Birgit"],["dc.contributor.author","Hornyak, Magdolna"],["dc.contributor.author","Klein, Christine"],["dc.contributor.author","Nass, Alexander"],["dc.contributor.author","Montagna, Pasquale"],["dc.contributor.author","Oertel, Wolfgang Hermann"],["dc.contributor.author","O'Keeffe, Shaun"],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Poewe, Werner"],["dc.contributor.author","Provini, Federica"],["dc.contributor.author","Pramstaller, Peter P."],["dc.contributor.author","Sieminski, Mariusz"],["dc.contributor.author","Sonka, Karel"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.contributor.author","de Weerd, A. L."],["dc.contributor.author","Wetter, Thomas C."],["dc.contributor.author","Winkelmann, Juliane"],["dc.contributor.author","Zucconi, Marco"],["dc.date.accessioned","2018-11-07T11:07:07Z"],["dc.date.available","2018-11-07T11:07:07Z"],["dc.date.issued","2007"],["dc.description.abstract","The European Restless Leas Syndrome (RLS) Study Group (EURLSSG) is an association of European RLS experts who are actively involved in RLS research. A major aim of the Study Group is the development and continuous improvement of standards for diagnosis and treatment of RLS. Several members developed study designs and evaluation methods in investigator-initiated trials early in the 1990s, and all members have since contributed to many pivotal and nonpivotal drug trials for the treatment of RLS. The recommendations on clinical investigations of pharmacological treatment of RLS patients summarize the group's expertise and knowledge acquired through clinical trials. The recommendations primarily address how to plan and conduct confirmatory, randomized clinical studies in patients with idiopathic RLS. Advice is presented for the diagnosis of RLS and clinical and polysomnographic inclusion and exclusion criteria. Primary and secondary endpoints for an evaluation of efficacy are based on a critical description of validated methods for both short- and long-term trials, also in special populations (children, pregnant women, elderly patients). The recommendations include the assessment of augmentation. Finally, general issues including the evaluation of safety and tolerability, as well as specific neurological and cardiovascular risks and sleep attacks/daytime somnolence, are discussed. The aim of these recommendations is to support research groups or pharmaceutical companies in the design of optimized study protocols. (C) 2007 Movement Disorder Society."],["dc.identifier.doi","10.1002/mds.21538"],["dc.identifier.isi","000251605200015"],["dc.identifier.pmid","17530666"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52479"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.publisher.place","Hoboken"],["dc.relation.conference","Scientific Symposium and Augmentation Workshop on Restless Leg Syndrome"],["dc.relation.eventlocation","Max Planck Inst Phys Complex Syst, Munich, GERMANY"],["dc.relation.issn","1531-8257"],["dc.relation.issn","0885-3185"],["dc.title","Clinical trials in restless legs syndrome - Recommendations of the European RLS study group (EURLSSG)"],["dc.type","conference_paper"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","SLEEP"],["dc.bibliographiccitation.volume","29"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.contributor.author","Kupsch, Andreas"],["dc.contributor.author","Oertel, Wolfgang Hermann"],["dc.contributor.author","Koester, J."],["dc.contributor.author","Reess, Juergen"],["dc.date.accessioned","2018-11-07T10:42:33Z"],["dc.date.available","2018-11-07T10:42:33Z"],["dc.date.issued","2006"],["dc.format.extent","A285"],["dc.identifier.isi","000237916701214"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/46824"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Academy Sleep Medicine"],["dc.publisher.place","Westchester"],["dc.relation.conference","20th Annual Meeting of the Associated-Professional-Sleep-Societies"],["dc.relation.eventlocation","Salt Lake City, UT"],["dc.relation.issn","0161-8105"],["dc.title","Rebound of sleep disturbance after rapid discontinuation of pramipexole in patients with restless legs syndrome"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","186"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Sleep Medicine"],["dc.bibliographiccitation.lastpage","189"],["dc.bibliographiccitation.volume","16"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.contributor.author","Sixel-Doering, Friederike"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Heinzel-Gutenbrunner, Monika"],["dc.contributor.author","Seppi, Klaus"],["dc.contributor.author","Poewe, Werner"],["dc.contributor.author","Hoegl, Birgit"],["dc.contributor.author","Frauscher, Birgit"],["dc.date.accessioned","2018-11-07T10:03:50Z"],["dc.date.available","2018-11-07T10:03:50Z"],["dc.date.issued","2015"],["dc.description.abstract","Objective: We aimed to validate the rapid eye movement (REM) sleep behavior disorder (RBD) screening questionnaire (RBDSQ) in 2 independent samples of patients with Parkinson's disease (PD) using different settings when performing the investigations. Methods: The RBDSQ was administered to two independent samples of 52 and 75 consecutive PD patients investigated with video-polysomnography (vPSG). Results: In sample A, the RBDSQ identified 46/52 (88.5%) patients correctly. In sample B, 50/75 (66.7%) patients were identified correctly. Considering a cut-off score of >= 5 as a positive test result, sample A showed a sensitivity of 0.90 and a specificity of 0.87, sample B showed a sensitivity of 0.68 and a specificity of 0.63. Main differences between both groups were that patients of sample A underwent a sleep history including RBD assessment prior to administration of the RBDSQ, whereas in sample B the RBDSQ was administered during routine work-up. Conclusions: The diagnostic value of the RBDSQ strongly depends on the clinical setting and may be influenced by the individual's awareness on RBD. This finding is a critical issue which deserves clarification before use of this and other questionnaires can be recommended in epidemiological studies. (C) 2014 Elsevier B.V. All rights reserved."],["dc.identifier.doi","10.1016/j.sleep.2014.08.014"],["dc.identifier.isi","000348291900030"],["dc.identifier.pmid","25534709"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/38563"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Bv"],["dc.relation.issn","1878-5506"],["dc.relation.issn","1389-9457"],["dc.title","Diagnostic value of the REM sleep behavior disorder screening questionnaire in Parkinson's disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1404"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","Movement Disorders"],["dc.bibliographiccitation.lastpage","1410"],["dc.bibliographiccitation.volume","21"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.contributor.author","Kupsch, Andreas"],["dc.contributor.author","Oertel, Wolfgang Hermann"],["dc.contributor.author","Koester, Juergen"],["dc.contributor.author","Reess, Juergen"],["dc.date.accessioned","2018-11-07T09:22:16Z"],["dc.date.available","2018-11-07T09:22:16Z"],["dc.date.issued","2006"],["dc.description.abstract","Although dopamine agonists are becoming first-line therapy for restless legs syndrome (RLS), few reports describe treatment periods exceeding 12 weeks. Here, 150 RLS Patients who had responded to pramipexole during a 6-month run-m period (mean dose, 0.50 mg) were randomly assigned to receive placebo or continue receiving pramipexole at an individually optimized dose of 0.125 to 0.75 mg/day for a further 3 months. Patients switched to placebo reached the primary endpoint (a predefined worsening on both the Clinical Global Impressions-Global Improvement scale and the International RLS Study Group Rating Scale) significantly more often than patients who continued to receive pramipexole (85.5% vs. 20.5%; P < 0.0001). They also reached the primary endpoint faster, in 5 versus 42 days to a Kaplan-Meier survival estimate of 0.85 and 7 versus > 84 days to an estimate of 0.5. Over the total 9 months, clinician and patient ratings of symptoms, sleep, and quality of life identified no decline in pramipexole's benefit or tolerability. The great majority of adverse events (AEs) were mild or moderate, and of expected types. Augmentation was considered an AE, but in this population of responders it did not occur. (c) 2006 Movement Disorder Society."],["dc.identifier.doi","10.1002/mds.20983"],["dc.identifier.isi","000240998100016"],["dc.identifier.pmid","16755554"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29302"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","0885-3185"],["dc.title","Controlled withdrawal of pramipexole after 6 months of open-label treatment in patients with restless legs syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","865"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Sleep Medicine"],["dc.bibliographiccitation.lastpage","873"],["dc.bibliographiccitation.volume","9"],["dc.contributor.author","Oertel, Wolfgang Hermann"],["dc.contributor.author","Benes, Heike"],["dc.contributor.author","Garcia-Borreguero, Diego"],["dc.contributor.author","Geisler, Peter"],["dc.contributor.author","Hoegl, Birgit"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Tacken, Ingrid"],["dc.contributor.author","Schollmayer, Erwin"],["dc.contributor.author","Kohnen, Ralf"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.date.accessioned","2018-11-07T11:08:52Z"],["dc.date.available","2018-11-07T11:08:52Z"],["dc.date.issued","2008"],["dc.description.abstract","Background: Long-term efficacy and tolerability data are not yet available for patch formulations of dopamine agonists in restless legs syndrome. Methods: Efficacy and safety of rotigotine (0.5-4 mg/24 h), formulated as a once-daily transdermal system (patch), were investigated in an open extension (SP710) of a preceding 6-week placebo-controlled trial (SP709, 341 randomized patients) in patients with idiopathic restless legs syndrome. For efficacy assessment the international RLS severity scale (IRLS), the RLS-6 scales, the clinical global impressions (CGI) and the QoL-RLS questionnaire were administered. In addition, long-term tolerability and safety were assessed. Results: Of 310 patients who finished the controlled trial, 295 (mean age 58 +/- 10 years, 66% females) with a mean IRLS score of 27.8 +/- 5.9 at baseline of SP709 were included. We report results after one year of this ongoing long-term trial. Two hundred twenty patients (retention rate = 74.6%) completed the 12-month follow-up period. The mean daily dose was 2.8 +/- 1.2 mg/24 h with 4 mg/24 h (40.6%) being the most frequently applied dose; 14.8% were sufficiently treated with 0.5 or 1.0 mg/24 h. The IRLS total score improved by -17.4 +/- 9.9 points between baseline and end of Year 1 (p < 0.001). The other measures of severity, sleep satisfaction and quality of life supported the efficacy of rotigotine (p < 0.001 for pre-post-comparisons of all efficacy variables). The tolerability was described as \"good\" or \"very good\" by 80.3% of all patients. The most common adverse events were application site reactions (40.0%), which led to withdrawal in 13.2%. Further relatively frequent adverse events were nausea (9.5%) and fatigue (6.4%). Two drug-related serious adverse events, nausea and syncope, required hospitalization. Symptoms of augmentation were not reported by the patients. Conclusion: Rotigotine provided a stable, clinically relevant improvement in all efficacy measures throughout one year of maintenance therapy. The transdermal patch was safe and generally well tolerated by the majority of patients. Comparable to any transdermal therapy, application site reactions were the main treatment complication. (c) 2008 Elsevier B.V. All rights reserved."],["dc.description.sponsorship","Schwarz Biosciences GmbH; UCB-Group, Monheim, Germany"],["dc.identifier.doi","10.1016/j.sleep.2008.04.012"],["dc.identifier.isi","000261622500010"],["dc.identifier.pmid","18753003"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52890"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Bv"],["dc.relation.issn","1878-5506"],["dc.relation.issn","1389-9457"],["dc.title","One year open-label safety and efficacy trial with rotigotine transdermal patch in moderate to severe idiopathic restless legs syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e98092"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","PLoS ONE"],["dc.bibliographiccitation.volume","9"],["dc.contributor.author","Schulte, Eva C."],["dc.contributor.author","Schramm, Katharina"],["dc.contributor.author","Schurmann, Claudia"],["dc.contributor.author","Lichtner, Peter"],["dc.contributor.author","Herder, Christian"],["dc.contributor.author","Roden, Michael"],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Peters, Annette"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Hoegl, Birgit"],["dc.contributor.author","Frauscher, Birgit"],["dc.contributor.author","Berger, Klaus"],["dc.contributor.author","Fietze, Ingo"],["dc.contributor.author","Gross, Nadine"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.contributor.author","Oertel, Wolfgang"],["dc.contributor.author","Bachmann, Cornelius G."],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Zimprich, Alexander"],["dc.contributor.author","Voelzke, Henry"],["dc.contributor.author","Schminke, Ulf"],["dc.contributor.author","Nauck, Matthias"],["dc.contributor.author","Illig, Thomas"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Mueller-Myhsok, Bertram"],["dc.contributor.author","Prokisch, Holger"],["dc.contributor.author","Winkelmann, Juliane"],["dc.date.accessioned","2018-11-07T09:39:56Z"],["dc.date.available","2018-11-07T09:39:56Z"],["dc.date.issued","2014"],["dc.description.abstract","Restless legs syndrome (RLS) is a common neurologic disorder characterized by nightly dysesthesias affecting the legs primarily during periods of rest and relieved by movement. RLS is a complex genetic disease and susceptibility factors in six genomic regions have been identified by means of genome-wide association studies (GWAS). For some complex genetic traits, expression quantitative trait loci (eQTLs) are enriched among trait-associated single nucleotide polymorphisms (SNPs). With the aim of identifying new genetic susceptibility factors for RLS, we assessed the 332 best-associated SNPs from the genome-wide phase of the to date largest RLS GWAS for cis-eQTL effects in peripheral blood from individuals of European descent. In 740 individuals belonging to the KORA general population cohort, 52 cis-eQTLs with p(nominal) < 10(-3) were identified, while in 976 individuals belonging to the SHIP-TREND general population study 53 cis-eQTLs with p(nominal) < 10(-3) were present. 23 of these cis-eQTLs overlapped between the two cohorts. Subsequently, the twelve of the 23 cis-eQTL SNPs, which were not located at an already published RLS-associated locus, were tested for association in 2449 RLS cases and 1462 controls. The top SNP, located in the DET1 gene, was nominally significant (p < 0.05) but did not withstand correction for multiple testing (p = 0.42). Although a similar approach has been used successfully with regard to other complex diseases, we were unable to identify new genetic susceptibility factor for RLS by adding this novel level of functional assessment to RLS GWAS data."],["dc.identifier.doi","10.1371/journal.pone.0098092"],["dc.identifier.isi","000336790800023"],["dc.identifier.pmid","24875634"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/10183"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/33404"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Public Library Science"],["dc.relation.issn","1932-6203"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Blood cis-eQTL Analysis Fails to Identify Novel Association Signals among Sub-Threshold Candidates from Genome-Wide Association Studies in Restless Legs Syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1000"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Nature Genetics"],["dc.bibliographiccitation.lastpage","1006"],["dc.bibliographiccitation.volume","39"],["dc.contributor.author","Winkelmann, Juliane"],["dc.contributor.author","Schormair, Barbara"],["dc.contributor.author","Lichtner, Peter"],["dc.contributor.author","Ripke, Stephan"],["dc.contributor.author","Xiong, Lan"],["dc.contributor.author","Jalilzadeh, Shapour"],["dc.contributor.author","Fulda, Stephany"],["dc.contributor.author","Putz, Benno"],["dc.contributor.author","Eckstein, Gertrud"],["dc.contributor.author","Hauk, Stephanie"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Zimprich, Alexander"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.contributor.author","Oertel, Wolfgang"],["dc.contributor.author","Bachmann, Cornelius G."],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Peglau, Ines"],["dc.contributor.author","Eisensehr, Ilonka"],["dc.contributor.author","Montplaisir, Jacques"],["dc.contributor.author","Turecki, Gustavo"],["dc.contributor.author","Rouleau, Guy A."],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Illig, Thomas"],["dc.contributor.author","Wichmann, Erich"],["dc.contributor.author","Holsboer, Florian"],["dc.contributor.author","Muller-Myhsok, Bertram"],["dc.contributor.author","Meitinger, Thomas"],["dc.date.accessioned","2018-11-07T11:00:21Z"],["dc.date.available","2018-11-07T11:00:21Z"],["dc.date.issued","2007"],["dc.description.abstract","Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome- wide association study we found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen- activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q, respectively. Two independent replications confirmed these association signals. Each genetic variant was associated with a more than 50% increase in risk for RLS, with the combined allelic variants conferring more than half of the risk. MEIS1 has been implicated in limb development, raising the possibility that RLS has components of a developmental disorder."],["dc.identifier.doi","10.1038/ng2099"],["dc.identifier.isi","000248446900018"],["dc.identifier.pmid","17637780"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/50900"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1061-4036"],["dc.title","Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]