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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 20

Zeitschriftenartikel

Harrer, Philip; Inderhees, Julica ORCID logoORCID: https://orcid.org/0000-0003-4523-3652; Zhao, Chen; Schormair, Barbara; Tilch, Erik; Gieger, Christian; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Jöhren, Olaf ORCID logoORCID: https://orcid.org/0000-0002-0532-5133; Fleming, Thomas; Nawroth, Peter P.; Berger, Klaus; Hermesdorf, Marco ORCID logoORCID: https://orcid.org/0000-0003-3541-7212; Winkelmann, Juliane; Schwaninger, Markus und Oexle, Konrad ORCID logoORCID: https://orcid.org/0000-0001-7447-2252 (2024): Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity. In: eBioMedicine, Bd. 101, 105007 [PDF, 1MB]

Kittke, Volker ORCID logoORCID: https://orcid.org/0000-0001-8866-1388; Zhao, Chen; Lam, Daniel D.; Harrer, Philip; Krezel, Wojciech; Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Oexle, Konrad ORCID logoORCID: https://orcid.org/0000-0001-7447-2252 und Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X (2024): RLS-associated MEIS transcription factors control distinct processes in human neural stem cells. In: Scientific Reports, Bd. 14, 28986 [PDF, 3MB]

Laabs, Björn‐Hergen ORCID logoORCID: https://orcid.org/0000-0002-9265-5738; Lohmann, Katja; Vollstedt, Eva‐Juliane; Reinberger, Tobias; Nuxoll, Lisa‐Marie ORCID logoORCID: https://orcid.org/0000-0003-0167-6638; Kilic‐Berkmen, Gamze ORCID logoORCID: https://orcid.org/0000-0002-9156-5706; Perlmutter, Joel S.; Loens, Sebastian ORCID logoORCID: https://orcid.org/0000-0003-3067-5239; Cruchaga, Carlos ORCID logoORCID: https://orcid.org/0000-0002-0276-2899; Franke, Andre; Dobricic, Valerija ORCID logoORCID: https://orcid.org/0000-0001-8559-1097; Hinrichs, Frauke; Grözinger, Anne; Altenmüller, Eckart; Bellows, Steven; Boesch, Sylvia; Bressman, Susan B.; Duque, Kevin R.; Espay, Alberto J. ORCID logoORCID: https://orcid.org/0000-0002-3389-136X; Ferbert, Andreas; Feuerstein, Jeanne S. ORCID logoORCID: https://orcid.org/0000-0002-7701-3120; Frank, Samuel ORCID logoORCID: https://orcid.org/0000-0002-1866-162X; Gasser, Thomas; Haslinger, Bernhard ORCID logoORCID: https://orcid.org/0000-0002-5513-1839; Jech, Robert ORCID logoORCID: https://orcid.org/0000-0002-9732-8947; Kaiser, Frank; Kamm, Christoph ORCID logoORCID: https://orcid.org/0000-0002-7618-2336; Kollewe, Katja; Kühn, Andrea A.; LeDoux, Mark S.; Lohmann, Ebba; Mahajan, Abhimanyu ORCID logoORCID: https://orcid.org/0000-0001-8807-6672; Münchau, Alexander ORCID logoORCID: https://orcid.org/0000-0002-3219-2284; Multhaupt‐Buell, Trisha; Pantelyat, Alexander ORCID logoORCID: https://orcid.org/0000-0002-6427-7485; Pirio Richardson, Sarah E.; Raymond, Deborah; Reich, Stephen G.; Saunders Pullman, Rachel ORCID logoORCID: https://orcid.org/0000-0001-8132-8806; Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Sharma, Nutan; Sichani, Azadeh Hamzehei; Simonyan, Kristina ORCID logoORCID: https://orcid.org/0000-0001-7444-0437; Volkmann, Jens; Wagle Shukla, Aparna; Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X; Wright, Laura J.; Zech, Michael ORCID logoORCID: https://orcid.org/0000-0001-8112-9153; Zeuner, Kirsten E.; Zittel, Simone ORCID logoORCID: https://orcid.org/0000-0002-3767-6376; Kasten, Meike; Sun, Yan V.; Bäumer, Tobias; Brüggemann, Norbert ORCID logoORCID: https://orcid.org/0000-0001-5969-6899; Ozelius, Laurie J.; Jinnah, Hyder A.; Klein, Christine und König, Inke R. ORCID logoORCID: https://orcid.org/0000-0003-0504-6465 (2024): Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies. In: Movement Disorders, Bd. 39, Nr. 11: S. 2110-2116 [PDF, 856kB]

Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Bell, Steven ORCID logoORCID: https://orcid.org/0000-0001-6774-3149; Didriksen, Maria ORCID logoORCID: https://orcid.org/0000-0002-4856-496X; Nawaz, Muhammad S.; Schandra, Nathalie; Stefani, Ambra ORCID logoORCID: https://orcid.org/0000-0003-4259-8824; Högl, Birgit; Dauvilliers, Yves; Bachmann, Cornelius G.; Kemlink, David; Sonka, Karel; Paulus, Walter; Trenkwalder, Claudia; Oertel, Wolfgang H.; Hornyak, Magdolna; Teder-Laving, Maris; Metspalu, Andres; Hadjigeorgiou, Georgios M. ORCID logoORCID: https://orcid.org/0000-0001-5386-4273; Polo, Olli; Fietze, Ingo; Ross, Owen A. ORCID logoORCID: https://orcid.org/0000-0003-4813-756X; Wszolek, Zbigniew K. ORCID logoORCID: https://orcid.org/0000-0001-5487-1053; Ibrahim, Abubaker; Bergmann, Melanie; Kittke, Volker ORCID logoORCID: https://orcid.org/0000-0001-8866-1388; Harrer, Philip; Dowsett, Joseph ORCID logoORCID: https://orcid.org/0000-0001-5381-2633; Chenini, Sofiene; Ostrowski, Sisse Rye ORCID logoORCID: https://orcid.org/0000-0001-5288-3851; Sørensen, Erik; Erikstrup, Christian ORCID logoORCID: https://orcid.org/0000-0001-6551-6647; Pedersen, Ole B. ORCID logoORCID: https://orcid.org/0000-0003-2312-5976; Topholm Bruun, Mie ORCID logoORCID: https://orcid.org/0000-0002-8819-5388; Nielsen, Kaspar R.; Butterworth, Adam S. ORCID logoORCID: https://orcid.org/0000-0002-6915-9015; Soranzo, Nicole ORCID logoORCID: https://orcid.org/0000-0003-1095-3852; Ouwehand, Willem H. ORCID logoORCID: https://orcid.org/0000-0002-7744-1790; Roberts, David J.; Danesh, John; Burchell, Brendan; Furlotte, Nicholas A.; Nandakumar, Priyanka; Bonnefond, Amélie; Potier, Louis; Earley, Christopher J.; Ondo, William G.; Xiong, Lan; Desautels, Alex; Perola, Markus; Vodicka, Pavel; Dina, Christian ORCID logoORCID: https://orcid.org/0000-0002-7722-7348; Stoll, Monika ORCID logoORCID: https://orcid.org/0000-0002-2711-4281; Franke, Andre ORCID logoORCID: https://orcid.org/0000-0003-1530-5811; Lieb, Wolfgang ORCID logoORCID: https://orcid.org/0000-0003-2544-4460; Stewart, Alexandre F. R. ORCID logoORCID: https://orcid.org/0000-0003-2673-9164; Shah, Svati H.; Gieger, Christian ORCID logoORCID: https://orcid.org/0000-0001-6986-9554; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Rye, David B.; Rouleau, Guy A.; Berger, Klaus; Stefansson, Hreinn; Ullum, Henrik; Stefansson, Kari; Hinds, David A. ORCID logoORCID: https://orcid.org/0000-0002-4911-803X; Di Angelantonio, Emanuele; Oexle, Konrad ORCID logoORCID: https://orcid.org/0000-0001-7447-2252 und Winkelmann, Juliane ORCID logoORCID: https://orcid.org/0000-0002-3074-599X (2024): Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction. In: Nature Genetics, Bd. 56, Nr. 6: S. 1090-1099 [PDF, 3MB]

Harrer, Philip; Mirza‐Schreiber, Nazanin; Mandel, Vanessa; Roeber, Sigrun; Stefani, Ambra ORCID logoORCID: https://orcid.org/0000-0003-4259-8824; Naher, Shamsun; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; Gieger, Christian; Waldenberger, Melanie; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Högl, Birgit; Herms, Jochen; Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Winkelmann, Juliane und Oexle, Konrad ORCID logoORCID: https://orcid.org/0000-0001-7447-2252 (2023): Epigenetic Association Analyses and Risk Prediction of RLS. In: Movement Disorders, Bd. 38, Nr. 8: S. 1410-1418 [PDF, 685kB]

Tilch, Erik; Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Högl, Birgit; Stefani, Ambra; Berger, Klaus; Trenkwalder, Claudia; Bachmann, Cornelius G.; Hornyak, Magdolna; Fietze, Ingo; Müller-Nurasyid, Martina ORCID logoORCID: https://orcid.org/0000-0003-3793-5910; Peters, Annette; Herms, Stefan; Nöthen, Markus M.; Müller-Myhsok, Bertram; Oexle, Konrad und Winkelmann, Juliane (2022): ExomeChip-based rare variant association study in restless legs syndrome. In: Sleep Medicine, Bd. 94: S. 26-30 [PDF, 598kB]

Schormair, Barbara; Zhao, Chen; Salminen, Aaro; Oexle, Konrad und Winkelmann, Juliane (2022): Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large genome-wide association study dataset of European ancestry. In: Sleep, Bd. 45, Nr. 8 [PDF, 5MB]

Mirza-Schreiber, Nazanin ORCID logoORCID: https://orcid.org/0000-0003-0836-8267; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad ORCID logoORCID: https://orcid.org/0000-0001-7447-2252 (2021): Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. In: Brain, Bd. 145, Nr. 2: S. 644-654 [PDF, 1MB]

Mirza-Schreiber, Nazanin; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad (2021): Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. In: Brain, Bd. 145, Nr. 2: S. 644-654 [PDF, 1MB]

Tilch, Erik; Schormair, Barbara; Zhao, Chen; Salminen, Aaro; Nikolic, Ana Antic; Holzknecht, Evi; Hoegl, Birgit; Poewe, Werner; Bachmann, Cornelius G.; Paulus, Walter; Trenkwalder, Claudia; Oertel, Wolfgang H.; Hornyak, Magdolna; Fietze, Ingo; Berger, Klaus; Lichtner, Peter; Gieger, Christian; Peters, Annette; Mueller-Myhsok, Bertram; Hoischen, Alexander; Winkelmann, Juliane und Oexle, Konrad (2020): Identification of Restless Legs Syndrome Genes by Mutational Load Analysis. In: Annals of Neurology, Bd. 87, Nr. 2: S. 184-193 [PDF, 285kB]

Hopfner, Franziska; Mueller, Stefanie H.; Szymczak, Silke; Junge, Olaf; Tittmann, Lukas; May, Sandra; Lohmann, Katja; Grallert, Harald; Lieb, Wolfgang; Strauch, Konstantin; Müller-Nurasyi, Martina; Berger, Klaus; Schormair, Barbara; Winkelmann, Juliane; Mollenhauer, Brit; Trenkwalder, Claudia; Maetzler, Walter; Berg, Daniela; Kasten, Meike; Klein, Christine; Höglinger, Günter U.; Gasser, Thomas; Deuschl, Günther; Franke, André; Krawczak, Michael; Dempfle, Astrid und Kuhlenbäumer, Gregor (2020): Private variants in PRKN are associated with late-onset Parkinson's disease. In: Parkinsonism & Related Disorders, Bd. 75: S. 24-26

Salminen, Aaro V.; Schandra, Nathalie; Schormair, Barbara; Oexle, Konrad und Winkelmann, Juliane (2020): Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome. In: Journal of Clinical Sleep Medicine, Bd. 16, Nr. 10: S. 1815-1817

Lane, Jacqueline M.; Jones, Samuel E.; Dashti, Hassan S.; Wood, Andrew R.; Aragam, Krishna G.; Hees, Vincent T. van; Strand, Linn B.; Winsvold, Bendik S.; Wang, Heming; Bowden, Jack; Song, Yanwei; Patel, Krunal; Anderson, Simon G.; Beaumont, Robin N.; Bechtold, David A.; Cade, Brian E.; Haas, Mary; Kathiresan, Sekar; Little, Max A.; Luik, Annemarie I; Loudon, Andrew S.; Purcell, Shaun; Richmond, Rebecca C.; Scheer, Frank A. J. L.; Schormair, Barbara; Tyrrell, Jessica; Winkelman, John W.; Winkelmann, Juliane; Hveem, Kristian; Zhao, Chen; Nielsen, Jonas B.; Willer, Cristen J.; Redline, Susan; Spiegelhalder, Kai; Kyle, Simon D.; Ray, David W.; Zwart, John-Anker; Brumpton, Ben; Frayling, Timothy M.; Lawlor, Deborah A.; Rutter, Martin K.; Weedon, Michael N.; Saxena, Richa; Martinsen, Amy E.; Skogholt, Anne H.; Sivertsen, Borge; Bragantini, Daniela; Kallestad, Havard; Janszky, Imre; Guzey, Ismail C.; Nilsen, Kristian B.; Fritsche, Lars; Pedersen, Linda M.; Gabrielsen, Maiken E.; Johnsen, Marianne B.; Lie, Marie U.; Engstrom, Morten; Sand, Trond und Zhou, Wei (2019): Biological and clinical insights from genetics of insomnia symptoms. In: Nature Genetics, Bd. 51, Nr. 3: 387-+ [PDF, 538kB]

Zech, Michael; Wagner, Matias; Schormair, Barbara; Oexle, Konrad und Winkelmann, Juliane (2019): Exomdiagnostik in der Neurologie. In: Nervenarzt, Bd. 90, Nr. 2: S. 131-137 [PDF, 401kB]

Trenkwalder, Claudia; Allen, Richard; Högl, Birgit; Clemens, Stefan; Patton, Stephanie; Schormair, Barbara und Winkelmann, Juliane (2018): Comorbidities, treatment, and pathophysiology in restless legs syndrome. In: Lancet Neurology, Bd. 17, Nr. 11: S. 994-1005

Salminen, Aaro V.; Schormair, Barbara; Flachskamm, Cornelia; Torres, Miguel; Müller-Myhsok, Bertram; Kimura, Mayumi und Winkelmann, Juliane (2018): Sleep disturbance by pramipexole is modified by Meis1 in mice. In: Journal of Sleep Research, Bd. 27, Nr. 4

Salminen, Aaro V.; Garrett, Lillian; Schormair, Barbara; Rozman, Jan; Giesert, Florian; Niedermeier, Kristina M.; Becker, Lore; Rathkolb, Birgit; Racz, Ildiko; Klingenspor, Martin; Klopstock, Thomas; Wolf, Eckhard; Zimmer, Andreas; Gailus-Durner, Valerie; Torres, Miguel; Fuchs, Helmut; Hrabe de Angelis, Martin; Wurst, Wolfgang; Hölter, Sabine M. und Winkelmann, Juliane (2017): Meis1: effects on motor phenotypes and the sensorimotor system in mice. In: Disease Models & Mechanisms, Bd. 10, Nr. 8: S. 981-991

Winkelmann, Juliane; Czamara, Darina; Schormair, Barbara; Knauf, Franziska; Schulte, Eva C.; Trenkwalder, Claudia; Dauvilliers, Yves; Polo, Olli; Hoegl, Birgit; Berger, Klaus; Fuhs, Andrea; Gross, Nadine; Stiasny-Kolster, Karin; Oertel, Wolfgang; Bachmann, Cornelius G.; Paulus, Walter; Xiong, Lan; Montplaisir, Jacques; Rouleau, Guy A.; Fietze, Ingo; Vavrova, Jana; Kemlink, David; Sonka, Karel; Nevsimalova, Sona; Lin, Siong-Chi; Wszolek, Zbigniew; Vilarino-Gueell, Carles; Farrer, Matthew J.; Gschliesser, Viola; Frauscher, Birgit; Falkenstetter, Tina; Poewe, Werner; Allen, Richard P.; Earley, Christopher J.; Ondo, William G.; Le, Wei-Dong; Spieler, Derek; Kaffe, Maria; Zimprich, Alexander; Kettunen, Johannes; Perola, Markus; Silander, Kaisa; Cournu-Rebeix, Isabelle; Francavilla, Marcella; Fontenille, Claire; Fontaine, Bertrand; Vodicka, Pavel; Prokisch, Holger; Lichtner, Peter; Peppard, Paul; Faraco, Juliette; Mignot, Emmanuel; Gieger, Christian; Illig, Thomas; Wichmann, Heinz-Erich; Mueller-Myhsok, Bertram und Meitinger, Thomas (Juli 2011): Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1.
In: PLOS Genetics 7(7), e1002171 [PDF, 683kB]

Schormair, Barbara; Plag, Jens; Kaffe, Maria; Gross, Nadine; Czamara, Darina; Samtleben, Walter; Lichtner, Peter; Ströhle, Andreas; Stefanidis, Ioannis; Vainas, Andreas; Dardiotis, Efthimios; Sakkas, George K.; Gieger, Christian; Müller-Myhsok, Bertram; Meitinger, Thomas; Heemann, Uwe; Hadjigeorgiou, Georgios M.; Oexle, Konrad und Winkelmann, Juliane (Juli 2011): MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease. In: Journal of medical genetics, Bd. 48, Nr. 7: S. 462-466 [PDF, 131kB]

Hopfner, Franziska; Schormair, Barbara; Knauf, Franziska; Berthele, Achim; Toelle, Thomas R.; Baron, Ralf; Maier, Christoph; Treede, Rolf-Detlef; Binder, Andreas; Sommer, Claudia; Maihoefner, Christian; Kunz, Wolfram; Zimprich, Friedrich; Heemann, Uwe; Pfeufer, Arne; Naebauer, Michael; Kaeaeb, Stefan; Nowak, Barbara; Gieger, Christian; Lichtner, Peter; Trenkwalder, Claudia; Oexle, Konrad und Winkelmann, Juliane (2011): Novel SCARB2 mutation in Action Myoclonus-Renal Failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features. In: BMC Neurology 11:134 [PDF, 731kB]

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