日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Meis transcription factors regulate cardiac conduction system development and adult function.

Meis转录因子调控心脏传导系统的发育和成年功能

Muñoz-Martín Noelia, Simon-Chica Ana, Díaz-Díaz Covadonga, Cadenas Vanessa, Temiño Susana, Esteban Isaac, Ludwig Andreas, Schormair Barbara, Winkelmann Juliane, Olejnickova Veronika, Sedmera David, Filgueiras-Rama David, Torres Miguel

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Sleep Related Movement Disorders: What's New and Changing Clinical Practice

睡眠相关运动障碍:临床实践的新进展和变化

Stefani, Ambra; Tang, Qi; Clemens, Stefan; DelRosso, Lourdes M; Garcia-Borreguero, Diego; Ferri, Raffaele; Frauscher, Birgit; Holzknecht, Evi; Provini, Federica; Schormair, Barbara; Winkelman, John; Högl, Birgit

Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction

对不宁腿综合征进行全基因组荟萃分析,可以深入了解其遗传结构、疾病生物学和风险预测。

Schormair, Barbara; Zhao, Chen; Bell, Steven; Didriksen, Maria; Nawaz, Muhammad S; Schandra, Nathalie; Stefani, Ambra; 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; Polo, Olli; Fietze, Ingo; Ross, Owen A; Wszolek, Zbigniew K; Ibrahim, Abubaker; Bergmann, Melanie; Kittke, Volker; Harrer, Philip; Dowsett, Joseph; Chenini, Sofiene; Ostrowski, Sisse Rye; Sørensen, Erik; Erikstrup, Christian; Pedersen, Ole B; Topholm Bruun, Mie; Nielsen, Kaspar R; Butterworth, Adam S; Soranzo, Nicole; Ouwehand, Willem H; Roberts, David J; Danesh, John; Burchell, Brendan; Furlotte, Nicholas A; Nandakumar, Priyanka; Earley, Christopher J; Ondo, William G; Xiong, Lan; Desautels, Alex; Perola, Markus; Vodicka, Pavel; Dina, Christian; Stoll, Monika; Franke, Andre; Lieb, Wolfgang; Stewart, Alexandre F R; Shah, Svati H; Gieger, Christian; Peters, Annette; Rye, David B; Rouleau, Guy A; Berger, Klaus; Stefansson, Hreinn; Ullum, Henrik; Stefansson, Kari; Hinds, David A; Di Angelantonio, Emanuele; Oexle, Konrad; Winkelmann, Juliane

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies

孤立性肌张力障碍的遗传风险因素逃逸全基因组关联研究

Laabs, Björn-Hergen; Lohmann, Katja; Vollstedt, Eva-Juliane; Reinberger, Tobias; Nuxoll, Lisa-Marie; Kilic-Berkmen, Gamze; Perlmutter, Joel S; Loens, Sebastian; Cruchaga, Carlos; Franke, Andre; Dobricic, Valerija; Hinrichs, Frauke; Grözinger, Anne; Altenmüller, Eckart; Bellows, Steven; Boesch, Sylvia; Bressman, Susan B; Duque, Kevin R; Espay, Alberto J; Ferbert, Andreas; Feuerstein, Jeanne S; Frank, Samuel; Gasser, Thomas; Haslinger, Bernhard; Jech, Robert; Kaiser, Frank; Kamm, Christoph; Kollewe, Katja; Kühn, Andrea A; LeDoux, Mark S; Lohmann, Ebba; Mahajan, Abhimanyu; Münchau, Alexander; Multhaupt-Buell, Trisha; Pantelyat, Alexander; Pirio Richardson, Sarah E; Raymond, Deborah; Reich, Stephen G; Saunders Pullman, Rachel; Schormair, Barbara; Sharma, Nutan; Sichani, Azadeh Hamzehei; Simonyan, Kristina; Volkmann, Jens; Wagle Shukla, Aparna; Winkelmann, Juliane; Wright, Laura J; Zech, Michael; Zeuner, Kirsten E; Zittel, Simone; Kasten, Meike; Sun, Yan V; Bäumer, Tobias; Brüggemann, Norbert; Ozelius, Laurie J; Jinnah, Hyder A; Klein, Christine; König, Inke R

Implementation and evaluation of personal genetic testing as part of genomics analysis courses in German universities

在德国大学基因组学分析课程中实施和评估个人基因检测

Slosarek, Tamara; Ibing, Susanne; Schormair, Barbara; Heyne, Henrike O; Böttinger, Erwin P; Andlauer, Till F M; Schurmann, Claudia

Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large genome-wide association study dataset of European ancestry

对欧洲血统人群大型全基因组关联研究数据集中的特发性不宁腿综合征候选基因研究进行重新评估

Schormair, Barbara; Zhao, Chen; Salminen, Aaro V; Oexle, Konrad; Winkelmann, Juliane

Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome

沙利度胺治疗难治性不宁腿综合征患者的疗效

Salminen, Aaro V; Schandra, Nathalie; Schormair, Barbara; Oexle, Konrad; Winkelmann, Juliane

Biological and clinical insights from genetics of insomnia symptoms

从遗传学角度对失眠症状进行生物学和临床方面的探讨

Lane, Jacqueline M; Jones, Samuel E; Dashti, Hassan S; Wood, Andrew R; Aragam, Krishna G; van Hees, Vincent T; 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

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

通过对欧洲血统个体进行全基因组关联研究,鉴定出不宁腿综合征的新风险基因位点:一项荟萃分析

Schormair, Barbara; Zhao, Chen; Bell, Steven; Tilch, Erik; Salminen, Aaro V; Pütz, Benno; Dauvilliers, Yves; Stefani, Ambra; Högl, Birgit; Poewe, Werner; Kemlink, David; Sonka, Karel; Bachmann, Cornelius G; Paulus, Walter; Trenkwalder, Claudia; Oertel, Wolfgang H; Hornyak, Magdolna; Teder-Laving, Maris; Metspalu, Andres; Hadjigeorgiou, Georgios M; Polo, Olli; Fietze, Ingo; Ross, Owen A; Wszolek, Zbigniew; Butterworth, Adam S; Soranzo, Nicole; Ouwehand, Willem H; Roberts, David J; Danesh, John; Allen, Richard P; Earley, Christopher J; Ondo, William G; Xiong, Lan; Montplaisir, Jacques; Gan-Or, Ziv; Perola, Markus; Vodicka, Pavel; Dina, Christian; Franke, Andre; Tittmann, Lukas; Stewart, Alexandre F R; Shah, Svati H; Gieger, Christian; Peters, Annette; Rouleau, Guy A; Berger, Klaus; Oexle, Konrad; Di Angelantonio, Emanuele; Hinds, David A; Müller-Myhsok, Bertram; Winkelmann, Juliane