Trenkwalder, Claudia

[["dc.bibliographiccitation.firstpage","142.e5"],["dc.bibliographiccitation.journal","Neurobiology of Aging"],["dc.bibliographiccitation.lastpage","142.e7"],["dc.bibliographiccitation.volume","93"],["dc.contributor.author","Rudakou, Uladzislau"],["dc.contributor.author","Futhey, Naomi C."],["dc.contributor.author","Krohn, Lynne"],["dc.contributor.author","Ruskey, Jennifer A."],["dc.contributor.author","Heilbron, Karl"],["dc.contributor.author","Cannon, Paul"],["dc.contributor.author","Alam, Armaghan"],["dc.contributor.author","Arnulf, Isabelle"],["dc.contributor.author","Hu, Michele T.M."],["dc.contributor.author","Montplaisir, Jacques Y."],["dc.contributor.author","Gagnon, Jean-François"],["dc.contributor.author","Desautels, Alex"],["dc.contributor.author","Dauvilliers, Yves"],["dc.contributor.author","Toffoli, Marco"],["dc.contributor.author","Gigli, Gian Luigi"],["dc.contributor.author","Valente, Mariarosaria"],["dc.contributor.author","Högl, Birgit"],["dc.contributor.author","Stefani, Ambra"],["dc.contributor.author","Holzknecht, Evi"],["dc.contributor.author","Sonka, Karel"],["dc.contributor.author","Kemlink, David"],["dc.contributor.author","Oertel, Wolfang"],["dc.contributor.author","Janzen, Annette"],["dc.contributor.author","Plazzi, Giuseppe"],["dc.contributor.author","Antelmi, Elena"],["dc.contributor.author","Figorilli, Michela"],["dc.contributor.author","Puligheddu, Monica"],["dc.contributor.author","Mollenhauer, Brit"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Sixel-Döring, Friederike"],["dc.contributor.author","De Cock, Valérie Cochen"],["dc.contributor.author","Monaca, Christelle Charley"],["dc.contributor.author","Heidbreder, Anna"],["dc.contributor.author","Ferini-Strambi, Luigi"],["dc.contributor.author","Dijkstra, Femke"],["dc.contributor.author","Viaene, Mineke"],["dc.contributor.author","Abril, Beatriz"],["dc.contributor.author","Boeve, Bradley F."],["dc.contributor.author","Postuma, Ronald B."],["dc.contributor.author","Rouleau, Guy A."],["dc.contributor.author","Gan-Or, Ziv"],["dc.date.accessioned","2021-04-14T08:23:22Z"],["dc.date.available","2021-04-14T08:23:22Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1016/j.neurobiolaging.2020.04.005"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/80887"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.relation.issn","0197-4580"],["dc.title","SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","235"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Movement Disorders"],["dc.bibliographiccitation.lastpage","240"],["dc.bibliographiccitation.volume","36"],["dc.contributor.author","Mufti, Kheireddin"],["dc.contributor.author","Rudakou, Uladzislau"],["dc.contributor.author","Yu, Eric"],["dc.contributor.author","Krohn, Lynne"],["dc.contributor.author","Ruskey, Jennifer A."],["dc.contributor.author","Asayesh, Farnaz"],["dc.contributor.author","Laurent, Sandra B."],["dc.contributor.author","Spiegelman, Dan"],["dc.contributor.author","Arnulf, Isabelle"],["dc.contributor.author","Hu, Michele T.M."],["dc.contributor.author","Montplaisir, Jacques Y."],["dc.contributor.author","Gagnon, Jean‐François"],["dc.contributor.author","Desautels, Alex"],["dc.contributor.author","Dauvilliers, Yves"],["dc.contributor.author","Gigli, Gian Luigi"],["dc.contributor.author","Valente, Mariarosaria"],["dc.contributor.author","Janes, Francesco"],["dc.contributor.author","Högl, Birgit"],["dc.contributor.author","Stefani, Ambra"],["dc.contributor.author","Holzknecht, Evi"],["dc.contributor.author","Šonka, Karel"],["dc.contributor.author","Kemlink, David"],["dc.contributor.author","Oertel, Wolfgang"],["dc.contributor.author","Janzen, Annette"],["dc.contributor.author","Plazzi, Giuseppe"],["dc.contributor.author","Antelmi, Elena"],["dc.contributor.author","Figorilli, Michela"],["dc.contributor.author","Puligheddu, Monica"],["dc.contributor.author","Mollenhauer, Brit"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Sixel‐Döring, Friederike"],["dc.contributor.author","Cochen De Cock, Valérie"],["dc.contributor.author","Monaca, Christelle Charley"],["dc.contributor.author","Heidbreder, Anna"],["dc.contributor.author","Ferini‐Strambi, Luigi"],["dc.contributor.author","Dijkstra, Femke"],["dc.contributor.author","Viaene, Mineke"],["dc.contributor.author","Abril, Beatriz"],["dc.contributor.author","Boeve, Bradley F."],["dc.contributor.author","Postuma, Ronald B."],["dc.contributor.author","Rouleau, Guy A."],["dc.contributor.author","Gan‐Or, Ziv"],["dc.date.accessioned","2021-04-14T08:23:40Z"],["dc.date.available","2021-04-14T08:23:40Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1002/mds.28318"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/81008"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.relation.eissn","1531-8257"],["dc.relation.issn","0885-3185"],["dc.title","Comprehensive Analysis of Familial Parkinsonism Genes in Rapid‐Eye‐Movement Sleep Behavior Disorder"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","744"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Brain"],["dc.bibliographiccitation.lastpage","759"],["dc.bibliographiccitation.volume","142"],["dc.contributor.author","Postuma, Ronald B."],["dc.contributor.author","Iranzo, Alex"],["dc.contributor.author","Hu, Michele"],["dc.contributor.author","Högl, Birgit"],["dc.contributor.author","Boeve, Bradley F."],["dc.contributor.author","Manni, Raffaele"],["dc.contributor.author","Oertel, Wolfgang H."],["dc.contributor.author","Arnulf, Isabelle"],["dc.contributor.author","Ferini-Strambi, Luigi"],["dc.contributor.author","Puligheddu, Monica"],["dc.contributor.author","Antelmi, Elena"],["dc.contributor.author","Cochen De Cock, Valerie"],["dc.contributor.author","Arnaldi, Dario"],["dc.contributor.author","Mollenhauer, Brit"],["dc.contributor.author","Videnovic, Aleksandar"],["dc.contributor.author","Sonka, Karel"],["dc.contributor.author","Jung, Ki-Young"],["dc.contributor.author","Kunz, Dieter"],["dc.contributor.author","Dauvilliers, Yves"],["dc.contributor.author","Provini, Federica"],["dc.contributor.author","Lewis, Simon J."],["dc.contributor.author","Buskova, Jitka"],["dc.contributor.author","Pavlova, Milena"],["dc.contributor.author","Heidbreder, Anna"],["dc.contributor.author","Montplaisir, Jacques Y."],["dc.contributor.author","Santamaria, Joan"],["dc.contributor.author","Barber, Thomas R."],["dc.contributor.author","Stefani, Ambra"],["dc.contributor.author","St.Louis, Erik K."],["dc.contributor.author","Terzaghi, Michele"],["dc.contributor.author","Janzen, Annette"],["dc.contributor.author","Leu-Semenescu, Smandra"],["dc.contributor.author","Plazzi, Guiseppe"],["dc.contributor.author","Nobili, Flavio"],["dc.contributor.author","Sixel-Doering, Friederike"],["dc.contributor.author","Dusek, Petr"],["dc.contributor.author","Bes, Frederik"],["dc.contributor.author","Cortelli, Pietro"],["dc.contributor.author","Ehgoetz Martens, Kaylena"],["dc.contributor.author","Gagnon, Jean-Francois"],["dc.contributor.author","Gaig, Carles"],["dc.contributor.author","Zucconi, Marco"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Gan-Or, Ziv"],["dc.contributor.author","Lo, Christine"],["dc.contributor.author","Rolinski, Michal"],["dc.contributor.author","Mahlknecht, Philip"],["dc.contributor.author","Holzknecht, Evi"],["dc.contributor.author","Boeve, Angel R."],["dc.contributor.author","Teigen, Luke N."],["dc.contributor.author","Toscano, Gianpaolo"],["dc.contributor.author","Mayer, Geert"],["dc.contributor.author","Morbelli, Silvia"],["dc.contributor.author","Dawson, Benjamin"],["dc.contributor.author","Pelletier, Amelie"],["dc.date.accessioned","2020-03-04T10:32:28Z"],["dc.date.accessioned","2021-10-27T13:22:09Z"],["dc.date.available","2020-03-04T10:32:28Z"],["dc.date.available","2021-10-27T13:22:09Z"],["dc.date.issued","2019"],["dc.description.abstract","Idiopathic REM sleep behaviour disorder (iRBD) is a powerful early sign of Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. This provides an unprecedented opportunity to directly observe prodromal neurodegenerative states, and potentially intervene with neuroprotective therapy. For future neuroprotective trials, it is essential to accurately estimate phenoconversion rate and identify potential predictors of phenoconversion. This study assessed the neurodegenerative disease risk and predictors of neurodegeneration in a large multicentre cohort of iRBD. We combined prospective follow-up data from 24 centres of the International RBD Study Group. At baseline, patients with polysomnographically-confirmed iRBD without parkinsonism or dementia underwent sleep, motor, cognitive, autonomic and special sensory testing. Patients were then prospectively followed, during which risk of dementia and parkinsonsim were assessed. The risk of dementia and parkinsonism was estimated with Kaplan-Meier analysis. Predictors of phenoconversion were assessed with Cox proportional hazards analysis, adjusting for age, sex, and centre. Sample size estimates for disease-modifying trials were calculated using a time-to-event analysis. Overall, 1280 patients were recruited. The average age was 66.3 ± 8.4 and 82.5% were male. Average follow-up was 4.6 years (range = 1-19 years). The overall conversion rate from iRBD to an overt neurodegenerative syndrome was 6.3% per year, with 73.5% converting after 12-year follow-up. The rate of phenoconversion was significantly increased with abnormal quantitative motor testing [hazard ratio (HR) = 3.16], objective motor examination (HR = 3.03), olfactory deficit (HR = 2.62), mild cognitive impairment (HR = 1.91-2.37), erectile dysfunction (HR = 2.13), motor symptoms (HR = 2.11), an abnormal DAT scan (HR = 1.98), colour vision abnormalities (HR = 1.69), constipation (HR = 1.67), REM atonia loss (HR = 1.54), and age (HR = 1.54). There was no significant predictive value of sex, daytime somnolence, insomnia, restless legs syndrome, sleep apnoea, urinary dysfunction, orthostatic symptoms, depression, anxiety, or hyperechogenicity on substantia nigra ultrasound. Among predictive markers, only cognitive variables were different at baseline between those converting to primary dementia versus parkinsonism. Sample size estimates for definitive neuroprotective trials ranged from 142 to 366 patients per arm. This large multicentre study documents the high phenoconversion rate from iRBD to an overt neurodegenerative syndrome. Our findings provide estimates of the relative predictive value of prodromal markers, which can be used to stratify patients for neuroprotective trials."],["dc.identifier.doi","10.1093/brain/awz030"],["dc.identifier.pmid","30789229"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/17196"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/92072"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.relation.eissn","1460-2156"],["dc.relation.issn","1460-2156"],["dc.relation.issn","0006-8950"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.rights","CC BY-NC 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by-nc/4.0"],["dc.subject.ddc","610"],["dc.title","Risk and predictors of dementia and parkinsonism in idiopathic REM sleep behaviour disorder: a multicentre study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","584"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Annals of Neurology"],["dc.bibliographiccitation.lastpage","598"],["dc.bibliographiccitation.volume","87"],["dc.contributor.author","Krohn, Lynne"],["dc.contributor.author","Wu, Richard Y. J."],["dc.contributor.author","Heilbron, Karl"],["dc.contributor.author","Ruskey, Jennifer A."],["dc.contributor.author","Laurent, Sandra B."],["dc.contributor.author","Blauwendraat, Cornelis"],["dc.contributor.author","Alam, Armaghan"],["dc.contributor.author","Arnulf, Isabelle"],["dc.contributor.author","Hu, Michele T. M."],["dc.contributor.author","Gan‐Or, Ziv"],["dc.contributor.author","Dauvilliers, Yves"],["dc.contributor.author","Högl, Birgit"],["dc.contributor.author","Toft, Mathias"],["dc.contributor.author","Bjørnarå, Kari Anne"],["dc.contributor.author","Stefani, Ambra"],["dc.contributor.author","Holzknecht, Evi"],["dc.contributor.author","Monaca, Christelle Charley"],["dc.contributor.author","Abril, Beatriz"],["dc.contributor.author","Plazzi, Giuseppe"],["dc.contributor.author","Antelmi, Elena"],["dc.contributor.author","Young, Peter"],["dc.contributor.author","Heidbreder, Anna"],["dc.contributor.author","Cochen De Cock, Valérie"],["dc.contributor.author","Mollenhauer, Brit"],["dc.contributor.author","Sixel‐Döring, Friederike"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Sonka, Karel"],["dc.contributor.author","Kemlink, David"],["dc.contributor.author","Puligheddu, Monica"],["dc.contributor.author","Dijkstra, Femke"],["dc.contributor.author","Viaene, Mineke"],["dc.contributor.author","Oertel, Wolfang"],["dc.contributor.author","Toffoli, Marco"],["dc.contributor.author","Gigli, Gian Luigi"],["dc.contributor.author","Valente, Mariarosaria"],["dc.contributor.author","Gagnon, Jean‐François"],["dc.contributor.author","Nalls, Mike A."],["dc.contributor.author","Singleton, Andrew B."],["dc.contributor.author","Desautels, Alex"],["dc.contributor.author","Montplaisir, Jacques Y."],["dc.contributor.author","Cannon, Paul"],["dc.contributor.author","Ross, Owen A."],["dc.contributor.author","Boeve, Bradley F."],["dc.contributor.author","Dupré, Nicolas"],["dc.contributor.author","Fon, Edward A."],["dc.contributor.author","Postuma, Ronald B."],["dc.contributor.author","Pihlstrøm, Lasse"],["dc.contributor.author","Rouleau, Guy A."],["dc.contributor.authorgroup","23andMe Research Team"],["dc.date.accessioned","2021-04-14T09:58:36Z"],["dc.date.available","2021-04-14T09:58:36Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1002/ana.25687"],["dc.identifier.eissn","1531-8249"],["dc.identifier.issn","0364-5134"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/84130"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.relation.eissn","1531-8249"],["dc.relation.issn","0364-5134"],["dc.title","Fine‐Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","184"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Annals of Neurology"],["dc.bibliographiccitation.lastpage","193"],["dc.bibliographiccitation.volume","87"],["dc.contributor.author","Tilch, Erik"],["dc.contributor.author","Schormair, Barbara"],["dc.contributor.author","Zhao, Chen"],["dc.contributor.author","Salminen, Aaro V."],["dc.contributor.author","Antic Nikolic, Ana"],["dc.contributor.author","Holzknecht, Evi"],["dc.contributor.author","Högl, Birgit"],["dc.contributor.author","Poewe, Werner"],["dc.contributor.author","Bachmann, Cornelius G."],["dc.contributor.author","Paulus, Walter"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Oertel, Wolfgang H."],["dc.contributor.author","Hornyak, Magdolna"],["dc.contributor.author","Fietze, Ingo"],["dc.contributor.author","Berger, Klaus"],["dc.contributor.author","Lichtner, Peter"],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Peters, Annette"],["dc.contributor.author","Müller‐Myhsok, Bertram"],["dc.contributor.author","Hoischen, Alexander"],["dc.contributor.author","Winkelmann, Juliane"],["dc.contributor.author","Oexle, Konrad"],["dc.date.accessioned","2020-01-14T08:34:05Z"],["dc.date.accessioned","2021-10-27T13:22:02Z"],["dc.date.available","2020-01-14T08:34:05Z"],["dc.date.available","2021-10-27T13:22:02Z"],["dc.date.issued","2019"],["dc.description.abstract","OBJECTIVE: Restless legs syndrome is a frequent neurological disorder with substantial burden on individual well-being and public health. Genetic risk loci have been identified, but the causatives genes at these loci are largely unknown, so that functional investigation and clinical translation of molecular research data are still inhibited. To identify putatively causative genes, we searched for highly significant mutational burden in candidate genes. METHODS: We analyzed 84 candidate genes in 4,649 patients and 4,982 controls by next generation sequencing using molecular inversion probes that targeted mainly coding regions. The burden of low-frequency and rare variants was assessed, and in addition, an algorithm (binomial performance deviation analysis) was established to estimate independently the sequence variation in the probe binding regions from the variation in sequencing depth. RESULTS: Highly significant results (considering the number of genes in the genome) of the conventional burden test and the binomial performance deviation analysis overlapped significantly. Fourteen genes were highly significant by one method and confirmed with Bonferroni-corrected significance by the other to show a differential burden of low-frequency and rare variants in restless legs syndrome. Nine of them (AAGAB, ATP2C1, CNTN4, COL6A6, CRBN, GLO1, NTNG1, STEAP4, VAV3) resided in the vicinity of known restless legs syndrome loci, whereas 5 (BBS7, CADM1, CREB5, NRG3, SUN1) have not previously been associated with restless legs syndrome. Burden test and binomial performance deviation analysis also converged significantly in fine-mapping potentially causative domains within these genes. INTERPRETATION: Differential burden with intragenic low-frequency variants reveals putatively causative genes in restless legs syndrome. ANN NEUROL 2019."],["dc.identifier.doi","10.1002/ana.25658"],["dc.identifier.eissn","1531-8249"],["dc.identifier.isbn","31788832"],["dc.identifier.issn","0364-5134"],["dc.identifier.pmid","31788832"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/17073"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/92063"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.relation.eissn","1531-8249"],["dc.relation.issn","1531-8249"],["dc.relation.issn","0364-5134"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.rights","CC BY-NC 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by-nc/4.0"],["dc.subject.ddc","610"],["dc.title","Identification of Restless Legs Syndrome Genes by Mutational Load Analysis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]