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收藏Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies
Laabs, Bjoern-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; Groezinger, Anne; Altenmueller, 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; Kuehn, Andrea A.; LeDoux, Mark S.; Lohmann, Ebba; Mahajan, Abhimanyu; Muenchau, 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.; Baeumer, Tobias; Brueggemann, Norbert; Ozelius, Laurie J.; Jinnah, Hyder A.; Klein, Christine; Koenig, Inke R. 分享 收藏 Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkers神经丝和颗粒蛋白前体与额颞叶变性中的萎缩有关-一项跨诊断研究，交叉验证萎缩和体液生物标志物Hueper, Lea; Steinacker, Petra; Polyakova, Maryna; Mueller, Karsten; Godulla, Jannis; Herzig, Sabine; Danek, Adrian; Engel, Annerose; Diehl-Schmid, Janine; Classen, Joseph; Fassbender, Klaus; Fliessbach, Klaus; Jahn, Holger; Kassubek, Jan; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Obrig, Hellmuth; Oeckl, Patrick; Prudlo, Johannes; Saur, Dorothee; Anderl-Straub, Sarah; Synofzik, Matthis; Wagner, Matias; Wiltfang, Jens; Winkelmann, Juliane; Volk, Alexander E.; Huppertz, Hans-Juergen; Otto, Markus; Schroeter, Matthias L. 分享 收藏 分享 收藏 Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's diseaseSeyedtaghia, Mohammad Reza; Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Vafadar, Shabnam; Shalaei, Neda; Nouri, Vahid; Zech, Michael; Winkelmann, Julianne; Shoeibi, Ali; Sadr-Nabavi, Ariane 分享 收藏 Recurrent VPS16 p.Arg187*Nonsense Variant in Early- Onset Generalized DystoniaOstrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A.; Wiethoff, Sarah; Houlden, Henry; Havrankova, Petra; Winkelmann, Julianne; Zech, Michael; Skorvanek, Matej 分享 收藏 Private variants in PRKN are associated with late-onset Parkinson's diseaseHopfner, Franziska; Mueller, Stefanie H.; Szymczak, Silke; Junge, Olaf; Tittmann, Lukas; May, Sandra; Lohmann, Katja; Grallert, Harald; Lieb, Wolfgang; Strauch, Konstantin; Mueller-Nurasyid, Martina; Berger, Klaus; Schormair, Barbara; Winkelmann, Juliane; Mollenhauer, Brit; Trenkwalder, Claudia; Maetzler, Walter; Berg, Daniela; Kasten, Meike; Klein, Christine; Hoeglinger, Guenter U.; Gasser, Thomas; Deuschl, Guenther; Franke, Andre; Krawczak, Michael; Dempfle, Astrid; Kuhlenbaeumer, Gregor 分享 收藏 分享 收藏 Association of AHSG with alopecia and mental retardation (APMR) syndromeSailani, M. Reza; Jahanbani, Fereshteh; Nasiri, Jafar; Behnam, Mahdiyeh; Salehi, Mansoor; Sedghi, Maryam; Hoseinzadeh, Majid; Takahashi, Shinichi; Zia, Amin; Gruber, Joshua; Lynch, Janet Linnea; Lam, Daniel; Winkelmann, Juliane; Amirkiai, Semira; Pang, Baoxu; Rego, Shannon; Mazroui, Safoura; Bernstein, Jonathan A.; Snyder, Michael P. 分享 收藏 Meis1: effects on motor phenotypes and the sensorimotor system in miceSalminen, 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; de Angelis, Martin Hrabe; Wurst, Wolfgang; Hoelter, Sabine M.; Winkelmann, Juliane 分享 收藏 Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controlsZech, Michael; Jochim, Angela; Boesch, Sylvia; Weber, Sandrina; Meindl, Tobias; Peters, Annette; Gieger, Christian; Mueller, Joerg; Messner, Michael; Ceballos-Baumann, Andres; Poewe, Werner; Haslinger, Bernhard; Winkelmann, Juliane 分享 收藏 Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroupsRothwell, Simon; Cooper, Robert G.; Lundberg, Ingrid E.; Miller, Frederick W.; Gregersen, Peter K.; Bowes, John; Vencovsky, Jiri; Danko, Katalin; Limaye, Vidya; Selva-O'Callaghan, Albert; Hanna, Michael G.; Machado, Pedro M.; Pachman, Lauren M.; Reed, Ann M.; Rider, Lisa G.; Cobb, Joanna; Platt, Hazel; Molberg, Oyvind; Benveniste, Olivier; Mathiesen, Pernille; Radstake, Timothy; Doria, Andrea; De Bleecker, Jan; De Paepe, Boel; Maurer, Britta; Ollier, William E.; Padyukov, Leonid; O'Hanlon, Terrance P.; Lee, Annette; Amos, Christopher I.; Gieger, Christian; Meitinger, Thomas; Winkelmann, Juliane; Wedderburn, Lucy R.; Chinoy, Hector; Lamb, Janine A. 分享 收藏 Guidelines for the first-line treatment of restless legs syndrome/Willis-Ekbom disease, prevention and treatment of dopaminergic augmentation: a combined task force of the IRLSSG, EURLSSG, and the RLS-foundationGarcia-Borreguero, Diego; Silber, Michael H.; Winkelman, John W.; Hoegl, Birgit; Bainbridge, Jacquelyn; Buchfuhrer, Mark; Hadjigeorgiou, Georgios; Inoue, Yuichi; Manconi, Mauro; Oertel, Wolfgang; Ondo, William; Winkelmann, Juliane; Allen, Richard P. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic ArchitectureStuart, Philip E.; Nair, Rajan P.; Tsoi, Lam C.; Tejasvi, Trilokraj; Das, Sayantan; Kang, Hyun Min; Ellinghaus, Eva; Chandran, Vinod; Callis-Duffin, Kristina; Ike, Robert; Li, Yanming; Wen, Xiaoquan; Enerback, Charlotta; Gudjonsson, Johann E.; Koks, Sulev; Kingo, Kuelli; Esko, Tonu; Mrowietz, Ulrich; Reis, Andre; Wichmann, H. Erich; Gieger, Christian; Hoffmann, Per; Noethen, Markus M.; Winkelmann, Juliane; Kunz, Manfred; Moreta, Elvia G.; Mease, Philip J.; Ritchlin, Christopher T.; Bowcock, Anne M.; Krueger, Gerald G.; Lim, Henry W.; Weidinger, Stephan; Weichenthal, Michael; Voorhees, John J.; Rahman, Proton; Gregersen, Peter K.; Franke, Andre; Gladman, Dafna D.; Abecasis, Goncalo R.; Elder, James T. 分享 收藏 分享 收藏 
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