Trenkwalder, Claudia

[["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","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.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"]]

[["dc.bibliographiccitation.firstpage","410"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","European Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","414"],["dc.bibliographiccitation.volume","21"],["dc.contributor.author","Oexle, Konrad"],["dc.contributor.author","Schormair, Barbara"],["dc.contributor.author","Ried, Janina S."],["dc.contributor.author","Czamara, Darina"],["dc.contributor.author","Heim, Katharina"],["dc.contributor.author","Frauscher, Birgit"],["dc.contributor.author","Hoegl, Birgit"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Fiedler, Gabriele"],["dc.contributor.author","Thiery, Joachim"],["dc.contributor.author","Lichtner, Peter"],["dc.contributor.author","Prokisch, Holger"],["dc.contributor.author","Specht, Michael"],["dc.contributor.author","Mueller-Myhsok, Bertram"],["dc.contributor.author","Doering, Angela"],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Peters, Annette"],["dc.contributor.author","Wichmann, H-Erich"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Winkelmann, Juliane"],["dc.date.accessioned","2018-11-07T09:26:31Z"],["dc.date.available","2018-11-07T09:26:31Z"],["dc.date.issued","2013"],["dc.description.abstract","Restless legs syndrome (RLS) is a common multifactorial disease. Some genetic risk factors have been identified. RLS susceptibility also has been related to iron. We therefore asked whether known iron-related genes are candidates for association with RLS and, vice versa, whether known RLS-associated loci influence iron parameters in serum. RLS/control samples (n=954/1814 in the discovery step, 735/736 in replication 1, and 736/735 in replication 2) were tested for association with SNPs located within 4 Mb intervals surrounding each gene from a list of 111 iron-related genes using a discovery threshold of P=5 x 10(-4). Two population cohorts (KORA F3 and F4 with together n=3447) were tested for association of six known RLS loci with iron, ferritin, transferrin, transferrin-saturation, and soluble transferrin receptor. Results were negative. None of the candidate SNPs at the iron-related gene loci was confirmed significantly. An intronic SNP, rs2576036, of KATNAL2 at 18q21.1 was significant in the first (P=0.00085) but not in the second replication step (joint nominal P-value=0.044). Especially, rs1800652 (C282Y) in the HFE gene did not associate with RLS. Moreover, SNPs at the known RLS loci did not significantly affect serum iron parameters in the KORA cohorts. In conclusion, the correlation between RLS and iron parameters in serum may be weaker than assumed. Moreover, in a general power analysis, we show that genetic effects are diluted if they are transmitted via an intermediate trait to an end-phenotype. Sample size formulas are provided for small effect sizes. European Journal of Human Genetics (2013) 21, 410-414; doi:10.1038/ejhg.2012.193; published online 29 August 2012"],["dc.identifier.doi","10.1038/ejhg.2012.193"],["dc.identifier.isi","000317089300011"],["dc.identifier.pmid","22929029"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/30322"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1018-4813"],["dc.title","Dilution of candidates: the case of iron-related genes in 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","85"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","95"],["dc.bibliographiccitation.volume","95"],["dc.contributor.author","Schulte, Eva C."],["dc.contributor.author","Kousi, Maria"],["dc.contributor.author","Tan, Perciliz L."],["dc.contributor.author","Tilch, Erik"],["dc.contributor.author","Knauf, Franziska"],["dc.contributor.author","Lichtner, Peter"],["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","Hornyak, Magdolna"],["dc.contributor.author","Oertel, Wolfgang Hermann"],["dc.contributor.author","Bachmann, Cornelius G."],["dc.contributor.author","Zimprich, Alexander"],["dc.contributor.author","Peters, Annette"],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Mueller-Myhsok, Bertram"],["dc.contributor.author","Katsanis, Nicholas"],["dc.contributor.author","Winkelmann, Juliane"],["dc.date.accessioned","2018-11-07T09:37:42Z"],["dc.date.available","2018-11-07T09:37:42Z"],["dc.date.issued","2014"],["dc.description.abstract","Restless legs syndrome (RLS) is a common neurologic condition characterized by nocturnal dysesthesias and an urge to move, affecting the legs. RLS is a complex trait, for which genome-wide association studies (GWASs) have identified common susceptibility alleles of modest (OR 1.2-1.7) risk at six genomic loci. Among these, variants in MEIS1 have emerged as the largest risk factors for RLS, suggesting that perturbations in this transcription factor might be causally related to RLS susceptibility. To establish this causality, direction of effect, and total genetic burden of MEIS1, we interrogated 188 case subjects and 182 control subjects for rare alleles not captured by previous GWASs, followed by genotyping of similar to 3,000 case subjects and 3,000 control subjects, and concluded with systematic functionalization of all discovered variants using a previously established in vivo model of neurogenesis. We observed a significant excess of rare MEIS1 variants in individuals with RLS. Subsequent assessment of all nonsynonymous variants by in vivo complementation revealed an excess of loss-of-function alleles in individuals with RLS. Strikingly, these alleles compromised the function of the canonical MEIS1 splice isoform but were irrelevant to an isoform known to utilize an alternative 3' sequence. Our data link MEIS1 loss of function to the etiopathology of RLS, highlight how combined sequencing and systematic functional annotation of rare variation at GWAS loci can detect risk burden, and offer a plausible explanation for the specificity of phenotypic expressivity of loss-of-function alleles at a locus broadly necessary for neurogenesis and neurodevelopment."],["dc.identifier.doi","10.1016/j.ajhg.2014.06.005"],["dc.identifier.isi","000338904100007"],["dc.identifier.pmid","24995868"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11537"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/32900"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Cell Press"],["dc.relation.issn","1537-6605"],["dc.relation.issn","0002-9297"],["dc.rights","CC BY-NC-ND 3.0"],["dc.rights.uri","https://creativecommons.org/licenses/by-nc-nd/3.0"],["dc.title","Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to 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","207"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Movement Disorders"],["dc.bibliographiccitation.lastpage","212"],["dc.bibliographiccitation.volume","22"],["dc.contributor.author","Kemlink, David"],["dc.contributor.author","Polo, Olli"],["dc.contributor.author","Montagna, Pasquale"],["dc.contributor.author","Provini, Federica"],["dc.contributor.author","Stiasny-Kolster, Karin"],["dc.contributor.author","Oertel, Wolfgang"],["dc.contributor.author","de Weerd, A. L."],["dc.contributor.author","Nevsimalova, Sona"],["dc.contributor.author","Sonka, Karel"],["dc.contributor.author","Hogl, Birgit"],["dc.contributor.author","Frauscher, Birgit"],["dc.contributor.author","Poewe, Werner"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Pramstaller, Peter P."],["dc.contributor.author","Ferini-Strambi, Luigi"],["dc.contributor.author","Zucconi, Marco"],["dc.contributor.author","Konofal, Eric"],["dc.contributor.author","Arnulf, Isabelle"],["dc.contributor.author","Hadjigeorgiou, Georgios M."],["dc.contributor.author","Happe, Svenja"],["dc.contributor.author","Klein, Christine"],["dc.contributor.author","Hiller, Anja"],["dc.contributor.author","Lichtner, Peter"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Mueller-Myshok, Betram"],["dc.contributor.author","Winkelmann, Juliane"],["dc.date.accessioned","2018-11-07T11:05:44Z"],["dc.date.available","2018-11-07T11:05:44Z"],["dc.date.issued","2007"],["dc.description.abstract","Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS 1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different populations. We conducted a family-based association study of 159 European RLS trios. The subjects were genotyped using microsatellite markers evenly covering the candidate regions on chromosomes 14q and 9p with an average intermarker distance of 1.1 cM. Transmission disequilibrium tests were used to analyze the data, and empirical P values were estimated by permutation testing. On chromosome 14q, a significant association (empirical P = 0.0033) was found with a haplotype formed by markers D14S1014 and D14S1017 when analyzing all families. On chromosome 9p, no significant association in the sample of all families and only marginally significant associations were detected, with a haplotype involving markers D9S1846-D9S171 in a subset of South European trios and with a haplotype at D9S156-D9S157 in a subset of Central European trios (P = 0.0086 and 0.0077, respectively). These results represent the first confirmation of these loci in a mixed European population. Variable results observed in families of different ethnic groups further corroborate the genetic complexity of RLS. (C) 2006 Movement Disorder Society."],["dc.identifier.doi","10.1002/mds.21254"],["dc.identifier.isi","000243944800010"],["dc.identifier.pmid","17133505"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52130"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1531-8257"],["dc.relation.issn","0885-3185"],["dc.title","Family-based association study of the loci 2 and 3 in a European restless legs syndrome population"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e82879"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","PLoS ONE"],["dc.bibliographiccitation.volume","8"],["dc.contributor.author","Zech, Michael"],["dc.contributor.author","Nuebling, Georg"],["dc.contributor.author","Castrop, Florian"],["dc.contributor.author","Jochim, Angela"],["dc.contributor.author","Schulte, Eva C."],["dc.contributor.author","Mollenhauer, Brit"],["dc.contributor.author","Lichtner, Peter"],["dc.contributor.author","Peters, Annette"],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Marquardt, Thorsten"],["dc.contributor.author","Vanier, Marie T."],["dc.contributor.author","Latour, Philippe"],["dc.contributor.author","Kluenemann, Hans H."],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Diehlschmid, Janine"],["dc.contributor.author","Perneczky, Robert"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Oexle, Konrad"],["dc.contributor.author","Haslinger, Bernhard"],["dc.contributor.author","Lorenzl, Stefan"],["dc.contributor.author","Winkelmann, Juliane"],["dc.date.accessioned","2018-11-07T09:16:25Z"],["dc.date.available","2018-11-07T09:16:25Z"],["dc.date.issued","2013"],["dc.description.abstract","Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the highly variable phenotype, diagnosis is challenging and particularly late-onset forms with predominantly neuropsychiatric presentations are likely underdiagnosed. Pathophysiologically, genetic alterations compromising the endosomal/lysosomal system are linked with age-related neurodegenerative disorders. We sought to examine a possible association of rare sequence variants in NPC1 and NPC2 with Parkinson's disease (PD), frontotemporal lobar degeneration (FTLD) and progressive supranuclear palsy (PSP), and to genetically determine the proportion of potentially misdiagnosed NPC patients in these neurodegenerative conditions. By means of high-resolution melting, we screened the coding regions of NPC1 and NPC2 for rare genetic variation in a homogenous German sample of patients clinically diagnosed with PD (n = 563), FTLD (n = 133) and PSP (n = 94), and 846 population-based controls. The frequencies of rare sequence variants in NPC1/2 did not differ significantly between patients and controls. Disease-associated NPC1/2 mutations were found in six PD patients (1.1%) and seven control subjects (0.8%), but not in FTLD or PSP. All rare variation was detected in the heterozygous state and no compound heterozygotes were observed. Our data do not support the hypothesis that rare NPC1/2 variants confer susceptibility for PD, FTLD, or PSP in the German population. Misdiagnosed NPC patients were not present in our samples. However, further assessment of NPC disease genes in age-related neurodegeneration is warranted."],["dc.identifier.doi","10.1371/journal.pone.0082879"],["dc.identifier.isi","000329194700015"],["dc.identifier.pmid","24386122"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/9578"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/27931"],["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","CC BY 2.5"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.5"],["dc.title","Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders"],["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.artnumber","e1002171"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","PLoS Genetics"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Winkelmann, Juliane"],["dc.contributor.author","Czamara, Darina"],["dc.contributor.author","Schormair, Barbara"],["dc.contributor.author","Knauf, Franziska"],["dc.contributor.author","Schulte, Eva C."],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Dauvilliers, Yves"],["dc.contributor.author","Polo, Olli"],["dc.contributor.author","Hoegl, Birgit"],["dc.contributor.author","Berger, Klaus"],["dc.contributor.author","Fuhs, Andrea"],["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","Xiong, Lan"],["dc.contributor.author","Montplaisir, Jacques"],["dc.contributor.author","Rouleau, Guy A."],["dc.contributor.author","Fietze, Ingo"],["dc.contributor.author","Vavrova, Jana"],["dc.contributor.author","Kemlink, David"],["dc.contributor.author","Sonka, Karel"],["dc.contributor.author","Nevsimalova, Sona"],["dc.contributor.author","Lin, Siong-Chi"],["dc.contributor.author","Wszolek, Zbigniew"],["dc.contributor.author","Vilarino-Gueell, Carles"],["dc.contributor.author","Farrer, Matthew J."],["dc.contributor.author","Gschliesser, Viola"],["dc.contributor.author","Frauscher, Birgit"],["dc.contributor.author","Falkenstetter, Tina"],["dc.contributor.author","Poewe, Werner"],["dc.contributor.author","Allen, Richard P."],["dc.contributor.author","Earley, Christopher J."],["dc.contributor.author","Ondo, William G."],["dc.contributor.author","Le, Wei-Dong"],["dc.contributor.author","Spieler, Derek"],["dc.contributor.author","Kaffe, Maria"],["dc.contributor.author","Zimprich, Alexander"],["dc.contributor.author","Kettunen, Johannes"],["dc.contributor.author","Perola, Markus"],["dc.contributor.author","Silander, Kaisa"],["dc.contributor.author","Cournu-Rebeix, Isabelle"],["dc.contributor.author","Francavilla, Marcella"],["dc.contributor.author","Fontenille, Claire"],["dc.contributor.author","Fontaine, Bertrand"],["dc.contributor.author","Vodicka, Pavel"],["dc.contributor.author","Prokisch, Holger"],["dc.contributor.author","Lichtner, Peter"],["dc.contributor.author","Peppard, Paul"],["dc.contributor.author","Faraco, Juliette"],["dc.contributor.author","Mignot, Emmanuel"],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Illig, Thomas"],["dc.contributor.author","Wichmann, Heinz-Erich"],["dc.contributor.author","Mueller-Myhsok, Bertram"],["dc.contributor.author","Meitinger, Thomas"],["dc.date.accessioned","2018-11-07T08:54:32Z"],["dc.date.available","2018-11-07T08:54:32Z"],["dc.date.issued","2011"],["dc.description.abstract","Restless legs syndrome (RLS) is a sensorimotor disorder with an age-dependent prevalence of up to 10% in the general population above 65 years of age. Affected individuals suffer from uncomfortable sensations and an urge to move in the lower limbs that occurs mainly in resting situations during the evening or at night. Moving the legs or walking leads to an improvement of symptoms. Concomitantly, patients report sleep disturbances with consequences such as reduced daytime functioning. We conducted a genome-wide association study (GWA) for RLS in 922 cases and 1,526 controls (using 301,406 SNPs) followed by a replication of 76 candidate SNPs in 3,935 cases and 5,754 controls, all of European ancestry. Herein, we identified six RLS susceptibility loci of genome-wide significance, two of them novel: an intergenic region on chromosome 2p14 (rs6747972, P = 9.03 x 10(-11), OR = 1.23) and a locus on 16q12.1 (rs3104767, P = 9.4 x 10(-19), OR = 1.35) in a linkage disequilibrium block of 140 kb containing the 59-end of TOX3 and the adjacent non-coding RNA BC034767."],["dc.identifier.doi","10.1371/journal.pgen.1002171"],["dc.identifier.isi","000293338600020"],["dc.identifier.pmid","21779176"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/8169"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/22694"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Public Library Science"],["dc.relation.issn","1553-7404"],["dc.rights","CC BY 2.5"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.5"],["dc.title","Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1"],["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","1328"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","European Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","1333"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Schulte, Eva C."],["dc.contributor.author","Fukumori, Akio"],["dc.contributor.author","Mollenhauer, Brit"],["dc.contributor.author","Hor, Hyun"],["dc.contributor.author","Arzberger, Thomas"],["dc.contributor.author","Perneczky, Robert"],["dc.contributor.author","Kurz, Alexander"],["dc.contributor.author","Diehl-Schmid, Janine"],["dc.contributor.author","Huell, Michael"],["dc.contributor.author","Lichtner, Peter"],["dc.contributor.author","Eckstein, Gertrud"],["dc.contributor.author","Zimprich, Alexander"],["dc.contributor.author","Haubenberger, Dietrich"],["dc.contributor.author","Pirker, Walter"],["dc.contributor.author","Bruecke, Thomas"],["dc.contributor.author","Bereznai, Benjamin"],["dc.contributor.author","Molnar, Maria J."],["dc.contributor.author","Lorenzo-Betancor, Oswaldo"],["dc.contributor.author","Pastor, Pau"],["dc.contributor.author","Peters, Annette"],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Estivill, Xavier"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Kretzschmar, Hans A."],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Haass, Christian"],["dc.contributor.author","Winkelmann, Juliane"],["dc.date.accessioned","2018-11-07T09:51:08Z"],["dc.date.available","2018-11-07T09:51:08Z"],["dc.date.issued","2015"],["dc.description.abstract","Many individuals with Parkinson's disease (PD) develop cognitive deficits, and a phenotypic and molecular overlap between neurodegenerative diseases exists. We investigated the contribution of rare variants in seven genes of known relevance to dementias (beta-amyloid precursor protein (APP), PSEN1/2, MAPT (microtubule-associated protein tau), fused in sarcoma (FUS), granulin (GRN) and TAR DNA-binding protein 43 (TDP-43)) to PD and PD plus dementia (PD + D) in a discovery sample of 376 individuals with PD and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with PD, 93 cases with Lewy body disease on neuropathological examination, 613 individuals with Alzheimer's disease (AD), 182 cases with frontotemporal dementia and 1014 general population controls. Variants identified in APP were functionally followed up by A beta mass spectrometry in transiently transfected HEK293 cells. PD + D cases harbored more rare variants across all the seven genes than PD individuals without dementia, and rare variants in APP were more common in PD cases overall than in either the AD cases or controls. When additional controls from publically available databases were added, one rare variant in APP (c.1795G4A(p.(E599K))) was significantly associated with the PD phenotype but was not found in either the PD cases or controls of an independent replication sample. One of the identified rare variants (c.2125G>A (p.(G709S))) shifted the A beta spectrum from A beta 40 to A beta 39 and A beta 37. Although the precise mechanism remains to be elucidated, our data suggest a possible role for APP in modifying the PD phenotype as well as a general contribution of genetic factors to the development of dementia in individuals with PD."],["dc.identifier.doi","10.1038/ejhg.2014.300"],["dc.identifier.isi","000361747700010"],["dc.identifier.pmid","25604855"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/35850"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1476-5438"],["dc.relation.issn","1018-4813"],["dc.title","Rare variants in beta-Amyloid precursor protein (APP) and Parkinson's disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]