Trenkwalder, Claudia

[["dc.bibliographiccitation.firstpage","A371"],["dc.bibliographiccitation.journal","SLEEP"],["dc.bibliographiccitation.lastpage","A372"],["dc.bibliographiccitation.volume","25"],["dc.contributor.author","Winkelmann, Juliane"],["dc.contributor.author","Prager, M."],["dc.contributor.author","Lieb, Roselind"],["dc.contributor.author","Pfister, H."],["dc.contributor.author","Spiegel, B."],["dc.contributor.author","Wittchen, Hans-Ulrich"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Strohle, A."],["dc.date.accessioned","2018-11-07T10:30:39Z"],["dc.date.available","2018-11-07T10:30:39Z"],["dc.date.issued","2002"],["dc.identifier.isi","000174927200517"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/43916"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Acad Sleep Medicine"],["dc.publisher.place","Westchester"],["dc.relation.issn","0161-8105"],["dc.title","Mood and anxiety disorders 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","152"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Movement Disorders"],["dc.bibliographiccitation.lastpage","153"],["dc.bibliographiccitation.volume","34"],["dc.contributor.author","Salminen, Aaro V."],["dc.contributor.author","Allen, Richard P."],["dc.contributor.author","Högl, Birgit"],["dc.contributor.author","Inoue, Yuichi"],["dc.contributor.author","Oertel, Wolfgang"],["dc.contributor.author","Winkelman, John W."],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Sampaio, Cristina"],["dc.contributor.author","Winkelmann, Juliane"],["dc.date.accessioned","2021-06-01T10:46:50Z"],["dc.date.available","2021-06-01T10:46:50Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1002/mds.27570"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/85400"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.relation.eissn","1531-8257"],["dc.relation.issn","0885-3185"],["dc.title","Reply to: A note on rotigotine for restless legs syndrome after renal transplantation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["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","543"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","550"],["dc.bibliographiccitation.volume","89"],["dc.contributor.author","Hartig, Monika B."],["dc.contributor.author","Iuso, Arcangela"],["dc.contributor.author","Haack, Tobias B."],["dc.contributor.author","Kmiec, Tomasz"],["dc.contributor.author","Jurkiewicz, Elzbieta"],["dc.contributor.author","Heim, Katharina"],["dc.contributor.author","Roeber, Sigrun"],["dc.contributor.author","Tarabin, Victoria"],["dc.contributor.author","Dusi, Sabrina"],["dc.contributor.author","Krajewska-Walasek, Malgorzata"],["dc.contributor.author","Jozwiak, Sergiusz"],["dc.contributor.author","Hempel, Maja"],["dc.contributor.author","Winkelmann, Juliane"],["dc.contributor.author","Elstner, Matthias"],["dc.contributor.author","Oexle, Konrad"],["dc.contributor.author","Klopstock, Thomas"],["dc.contributor.author","Mueller-Felber, Wolfgang"],["dc.contributor.author","Gasser, Thomas"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Tiranti, Valeria"],["dc.contributor.author","Kretzschmar, Hans A."],["dc.contributor.author","Schmitz, Gerd"],["dc.contributor.author","Strom, Tim-Mathias"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Prokisch, Holger"],["dc.date.accessioned","2018-11-07T08:50:46Z"],["dc.date.available","2018-11-07T08:50:46Z"],["dc.date.issued","2011"],["dc.description.abstract","The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized by brain iron deposits in the basal ganglia. For about half of the cases, the molecular basis is currently unknown. We used homozygosity mapping followed by candidate gene sequencing to identify a homozygous 11 bp deletion in the orphan gene C19orf12. Mutation screening of 23 ideopathic NBIA index cases revealed two mutated alleles in 18 of them, and one loss-of-function mutation is the most prevalent. We also identified compound heterozygous missense mutations in a case initially diagnosed with Parkinson disease at age 49. Psychiatric signs, optic atrophy, and motor axonal neuropathy were common findings. Compared to the most prevalent NBIA subtype, pantothenate kinase associated neurodegeneration (PKAN), individuals with two C19orf12 mutations were older at age of onset and the disease progressed more slowly. A polyclonal antibody against the predicted membrane spanning protein showed a mitochondrial localization. A histopathological examination in a single autopsy case detected Lewy bodies, tangles, spheroids, and tau pathology. The mitochondrial localization together with the immunohistopathological findings suggests a pathomechanistic overlap with common forms of neurodegenerative disorders."],["dc.identifier.isi","000295951300008"],["dc.identifier.pmid","21981780"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/21770"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Cell Press"],["dc.relation.issn","1537-6605"],["dc.relation.issn","0002-9297"],["dc.title","Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","538"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Movement Disorders"],["dc.bibliographiccitation.lastpage","540"],["dc.bibliographiccitation.volume","28"],["dc.contributor.author","Hopfner, Franziska"],["dc.contributor.author","Schulte, Eva C."],["dc.contributor.author","Mollenhauer, Brit"],["dc.contributor.author","Bereznai, Benjamin"],["dc.contributor.author","Knauf, Franziska"],["dc.contributor.author","Lichtner, Peter"],["dc.contributor.author","Zimprich, Alexander"],["dc.contributor.author","Haubenberger, Dietrich"],["dc.contributor.author","Pirker, Walter"],["dc.contributor.author","Bruecke, Thomas"],["dc.contributor.author","Peters, Annette"],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Kuhlenbaeumer, Gregor"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Winkelmann, Juliane"],["dc.date.accessioned","2018-11-07T09:26:33Z"],["dc.date.available","2018-11-07T09:26:33Z"],["dc.date.issued","2013"],["dc.description.abstract","Background Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined. Methods We studied the role of exonic variants in SCARB2 and tried to replicate the association between the SNP rs6812193 and PD in a German and Austrian sample. Screening of all SCARB2 exons by high-resolution melting curve analysis was performed in 376 German PD patients. The SNP rs6812193 was analyzed in 984 PD patients and 1014 general population controls. Results We identified no novel exonic variants in SCARB2 but confirmed the association between SNP rs6812193 and PD (OR, 0.86; P=.02). (c) 2013 Movement Disorder Society"],["dc.identifier.doi","10.1002/mds.25349"],["dc.identifier.isi","000317366100026"],["dc.identifier.pmid","23408458"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/30328"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","0885-3185"],["dc.title","The role of SCARB2 as susceptibility factor 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","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.firstpage","24"],["dc.bibliographiccitation.journal","Parkinsonism & Related Disorders"],["dc.bibliographiccitation.lastpage","26"],["dc.bibliographiccitation.volume","75"],["dc.contributor.author","Hopfner, Franziska"],["dc.contributor.author","Mueller, Stefanie H."],["dc.contributor.author","Szymczak, Silke"],["dc.contributor.author","Junge, Olaf"],["dc.contributor.author","Tittmann, Lukas"],["dc.contributor.author","May, Sandra"],["dc.contributor.author","Lohmann, Katja"],["dc.contributor.author","Grallert, Harald"],["dc.contributor.author","Lieb, Wolfgang"],["dc.contributor.author","Strauch, Konstantin"],["dc.contributor.author","Müller-Nurasyid, Martina"],["dc.contributor.author","Berger, Klaus"],["dc.contributor.author","Schormair, Barbara"],["dc.contributor.author","Winkelmann, Juliane"],["dc.contributor.author","Mollenhauer, Brit"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Maetzler, Walter"],["dc.contributor.author","Berg, Daniela"],["dc.contributor.author","Kasten, Meike"],["dc.contributor.author","Klein, Christine"],["dc.contributor.author","Höglinger, Günter U."],["dc.contributor.author","Gasser, Thomas"],["dc.contributor.author","Deuschl, Günther"],["dc.contributor.author","Franke, André"],["dc.contributor.author","Krawczak, Michael"],["dc.contributor.author","Dempfle, Astrid"],["dc.contributor.author","Kuhlenbäumer, Gregor"],["dc.date.accessioned","2021-04-14T08:25:55Z"],["dc.date.available","2021-04-14T08:25:55Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1016/j.parkreldis.2020.05.003"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/81769"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.relation.issn","1353-8020"],["dc.title","Private variants in PRKN are associated with late-onset Parkinson's disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","393"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Parkinsonism & Related Disorders"],["dc.bibliographiccitation.lastpage","398"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Storch, Alexander"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Oehlwein, C."],["dc.contributor.author","Winkelmann, Juliane"],["dc.contributor.author","Polzer, U."],["dc.contributor.author","Hundemer, H. P."],["dc.contributor.author","Schwarz, J."],["dc.date.accessioned","2018-11-07T08:45:20Z"],["dc.date.available","2018-11-07T08:45:20Z"],["dc.date.issued","2005"],["dc.description.abstract","Motor complications arising after long-term treatment with levodopa remain one of the main challenges in the treatment of patients with Parkinson's disease (PD). Monotherapy with dopamine agonists may delay the onset of motor complications or reduce their severity when added to levodopa treatment. Here, we retrospectively analyzed data from 62 patients with advanced PD who presented with moderate to severe response fluctuations in whom we increased the dose of oral treatment with pergolide beyond 4.5 mg daily. Patients had been treated with levodopa for 10.7 +/- 4.8 years. Pergolide was increased to 8.2 +/- 4.3 mg per day over a median titration period of 13.5 weeks. Mean daily dose of levodopa prior to pergolide high-dose treatment was 733 +/- 468 mg and decreased to 348 +/- 186 mg after pergolide fitration. The duration of OFF times decreased from 7.3 +/- 3.8 to 1.7 +/- 0.9 h per day (p < 0.001) measured by patients' diaries. Dyskinesias, present for 5.0 +/- 3.3 h per day at baseline, were reduced to 1.4 +/- 0.8 h per day (p < 0.001) and the total daily duration of motor fluctuations (off-time duration plus dyskinesia duration) decreased from 10.5 +/- 7.0 to 2.8 +/- 2.2 h (p < 0.00 1). There was a significant improvement in parkinsonian symptoms (baseline to endpoint reduction of UPDRS III from a median of 36 to 8; p < 0.001). To reduce gastrointestinal side effects 23 patients required concomitant treatment with domperidone. Seven patients developed hallucinations during the titration period, six patients required treatment with clozapine. Our data indicate that increasing the dose of pergolide above 5 mg per day can dramatically reduce the need for levodopa, motor fluctuations and severity of clinical symptoms. Controlled trials are needed to further substantiate the efficacy and safety of this treatment strategy. (c) 2005 Elsevier Ltd. All rights reserved."],["dc.identifier.doi","10.1016/j.parkreldis.2005.03.005"],["dc.identifier.isi","000232420400009"],["dc.identifier.pmid","15993640"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/20413"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Sci Ltd"],["dc.relation.issn","1353-8020"],["dc.title","High-dose treatment with pergolide in Parkinson's disease patients with motor fluctuations and dyskinesias"],["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"]]