PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study von Gonsior, Kathrin, Kaucher, Gabriele Anna, Pelz, Patrik, Schumann, Dorothea, Gansel, Melanie, Kuhs, Sandra, Klockgether, Thomas, Forlani, Sylvie, Durr, Alexandra, Hauser, Stefan, Rattay, Tim W., Synofzik, Matthis, Hengel, Holger, Schöls, Ludger, Rieß, Olaf H., Hübener-Schmid, Jeannette

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Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches von Roggia, Cristiana, Armeanu-Ebinger, Sorin, Gschwind, Axel, Seibel-Kelemen, Olga, Hertler, Sonja, Faust, Ulrike, Liebmann, Alexandra, Haack, Tobias B., Neumann, Manuela, Bonzheim, Irina, Forschner, Andrea, Kopp, Hans-Georg, Herster, Franziska, Hartkopf, Andreas, Bitzer, Michael, Malek, Nisar P., Brecht, Ines B., Ruhm, Kristina, Möller, Yvonne, Löwenheim, Hubert, Ossowski, Stephan, Rieß, Olaf H., Schroeder, Christopher

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Thermal Ablation of Colorectal Cancer Metastases Leads to Activation of Individual Cancer-Specific T Cell Immunity von Haen, Sebastian, Nussbaum, Bianca, Kowalewski, Daniel Johannes, Jaeger, Guenter, Pereira, Philippe, Clasen, Stephan, Sipos, Bence, Koenigsrainer, Ingmar, Beckert, Stefan, Wagner, Silvia, Riess, Olaf H., Koenigsrainer, Alfred, Stevanovic, Stefan, Kanz, Lothar, Rammensee, Hans-Georg, Loeffler, Markus W., Gouttefangeas, Cecile

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Radiofrequency Ablation of Liver Metastases from Colorectal Cancer Induces a Cancer-Specific T Cell Repertoire in Humans von Loeffler, Markus W., Nussbaum, Bianca, Jurmeister, Philipp S., Budczies, Jan, Kowalewski, Daniel Johannes, Clasen, Stephan, Koenigsrainer, Ingmar, Beckert, Stefan, Wagner, Silvia, Sipos, Bence, Bullinger, Florian, Riess, Olaf H., Pereira, Philippe, Koenigsrainer, Alfred, Kanz, Lothar, Stevanovic, Stefan, Denkert, Carsten, Rammensee, Hans-Georg, Gouttefangeas, Cecile, Haen, Sebastian

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Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history von Engel, Christoph, Rhiem, Kerstin, Hahnen, Eric, Loibl, Sibylle, Weber, Karsten E, Seiler, Sabine, Zachariae, Silke, Hauke, Jan, Wappenschmidt, Barbara, Waha, Anke, Blümcke, Britta, Kiechle, Marion, Meindl, Alfons, Niederacher, Dieter, Bartram, Claus R, Speiser, Dorothee, Schlegelberger, Brigitte, Arnold, Norbert, Wieacker, Peter, Leinert, Elena, Gehrig, Andrea, Briest, Susanne, Kast, Karin, Riess, Olaf, Emons, Günter, Weber, Bernhard H F, Engel, Jutta, Schmutzler, Rita K

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Recommendations for whole genome sequencing in diagnostics for rare diseases von Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W, Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C, Dincer, Yasemin, Eck, Sebastian H, van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G, Weiss, Marjan M

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Longitudinal Multi-omics Analyses Identify Responses of Megakaryocytes, Erythroid Cells, and Plasmablasts as Hallmarks of Severe COVID-19 von Bernardes, Joana P., Tran, Florian, Best, Lena, Bordoni, Dora, Josephs-Spaulding, Jonathan, Köhler, Philipp, Künstner, Axel, Rosati, Elisa, Bacher, Petra, Bruse, Niklas, Franzenburg, Sören, Frey, Norbert, Fuß, Janina, Glück, Andreas, Hamm, Jacob, Imm, Simon, Kaiser, Sina, Lange, Christoph, Laue, Georg, Marinos, Georgios, Pickkers, Peter, Rabe, Klaus F., Renz, Alina, Röcken, Christoph, Rupp, Jan, Schaffarzyk, Annika, Scheffold, Alexander, Schulte-Schrepping, Jonas, Skowasch, Dirk, Ulas, Thomas, Wandinger, Klaus-Peter, Wittig, Michael, Zimmermann, Johannes, Busch, Hauke, Hoyer, Bimba F., Kaleta, Christoph, Heyckendorf, Jan, Rybniker, Jan, Schultze, Joachim L., Rosenstiel, Philip, Banovich, Nicholas E., Desai, Tushar, Eickelberg, Oliver, Haniffa, Muzlifa, Horvath, Peter, Kropski, Jonathan A., Lafyatis, Robert, Meyer, Kerstin, Nawijn, Martijn C., Nikolic, Marko, Ordovas Montanes, Jose, Pe’er, Dana, Tata, Purushothama Rao, Rawlins, Emma, Regev, Aviv, Reyfman, Paul, Samakovlis, Christos, Schultze, Joachim, Shalek, Alex, Shepherd, Douglas, Spence, Jason, Theis, Fabian, van den Berge, Maarten, von Papen, Michael, Whitsett, Jeffrey, Angelov, Angel, Bals, Robert, Bonifacio, Ezio, Colme-Tatche, Maria, Diefenbach, Andreas, Dilthey, Alexander, Fischer, Nicole, Gagneur, Julien, Goesmann, Alexander, Kallies, René, Kehr, Birte, Keller, Andreas, Kim-Hellmuth, Sarah, Korbel, Jan O., Kurth, Ingo, Landthaler, Markus, Li, Yang, Ludwig, Kerstin, Makarewicz, Oliwia, Nöthen, Markus, Nürnberg, Peter, Ohler, Uwe, Overmann, Jörg, Peter, Silke, Pfeffer, Klaus, Poetsch, Anna R., Rajewsky, Niklaus, Ralser, Markus, Saliba, Antoine-Emmanuel, Schulte, Eva-Christina, Sczyrba, Alexander, Stegle, Oliver, Stoye, Jens, von Kleist, Max, Walker, Andreas

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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease von Nalls, Mike A, Pankratz, Nathan, Lill, Christina M, Do, Chuong B, Hernandez, Dena G, Saad, Mohamad, DeStefano, Anita L, Kara, Eleanna, Bras, Jose, Sharma, Manu, Schulte, Claudia, Keller, Margaux F, Arepalli, Sampath, Letson, Christopher, Edsall, Connor, Stefansson, Hreinn, Liu, Xinmin, Pliner, Hannah, Lee, Joseph H, Cheng, Rong, Ikram, M Arfan, Ioannidis, John P A, Hadjigeorgiou, Georgios M, Bis, Joshua C, Martinez, Maria, Perlmutter, Joel S, Goate, Alison, Marder, Karen, Fiske, Brian, Sutherland, Margaret, Xiromerisiou, Georgia, Myers, Richard H, Clark, Lorraine N, Stefansson, Kari, Hardy, John A, Heutink, Peter, Chen, Honglei, Wood, Nicholas W, Houlden, Henry, Payami, Haydeh, Brice, Alexis, Scott, William K, Gasser, Thomas, Bertram, Lars, Eriksson, Nicholas, Foroud, Tatiana, Singleton, Andrew B

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Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease von Strauss, Karsten M., Martins, L. Miguel, Plun-Favreau, Helene, Marx, Frank P., Kautzmann, Sabine, Berg, Daniela, Gasser, Thomas, Wszolek, Zbginiew, Müller, Thomas, Bornemann, Antje, Wolburg, Hartwig, Downward, Julian, Riess, Olaf, Schulz, Jörg B., Krüger, Rejko

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Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology von Ripperger, Tim, Bielack, Stefan S., Borkhardt, Arndt, Brecht, Ines B., Burkhardt, Birgit, Calaminus, Gabriele, Debatin, Klaus‐Michael, Deubzer, Hedwig, Dirksen, Uta, Eckert, Cornelia, Eggert, Angelika, Erlacher, Miriam, Fleischhack, Gudrun, Frühwald, Michael C., Gnekow, Astrid, Goehring, Gudrun, Graf, Norbert, Hanenberg, Helmut, Hauer, Julia, Hero, Barbara, Hettmer, Simone, von Hoff, Katja, Horstmann, Martin, Hoyer, Juliane, Illig, Thomas, Kaatsch, Peter, Kappler, Roland, Kerl, Kornelius, Klingebiel, Thomas, Kontny, Udo, Kordes, Uwe, Körholz, Dieter, Koscielniak, Ewa, Kramm, Christof M., Kuhlen, Michaela, Kulozik, Andreas E., Lamottke, Britta, Leuschner, Ivo, Lohmann, Dietmar R., Meinhardt, Andrea, Metzler, Markus, Meyer, Lüder H., Moser, Olga, Nathrath, Michaela, Niemeyer, Charlotte M., Nustede, Rainer, Pajtler, Kristian W., Paret, Claudia, Rasche, Mareike, Reinhardt, Dirk, Rieß, Olaf, Russo, Alexandra, Rutkowski, Stefan, Schlegelberger, Brigitte, Schneider, Dominik, Schneppenheim, Reinhard, Schrappe, Martin, Schroeder, Christopher, von Schweinitz, Dietrich, Simon, Thorsten, Sparber‐Sauer, Monika, Spix, Claudia, Stanulla, Martin, Steinemann, Doris, Strahm, Brigitte, Temming, Petra, Thomay, Kathrin, von Bueren, Andre O., Vorwerk, Peter, Witt, Olaf, Wlodarski, Marcin, Wössmann, Willy, Zenker, Martin, Zimmermann, Stefanie, Pfister, Stefan M., Kratz, Christian P.

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Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease von Singh, Yogesh, Trautwein, Christoph, Romani, Joan, Salker, Madhuri S, Neckel, Peter H, Fraccaroli, Isabel, Abeditashi, Mahkameh, Woerner, Nils, Admard, Jakob, Dhariwal, Achal, Dueholm, Morten K D, Schäfer, Karl-Herbert, Lang, Florian, Otzen, Daniel E, Lashuel, Hilal A, Riess, Olaf, Casadei, Nicolas

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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17) von Rolfs, Arndt, Koeppen, Arnulf H., Bauer, Ingrid, Bauer, Peter, Buhlmann, Sven, Topka, Helge, Schöls, Ludger, Riess, Olaf

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Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3) von Hübener, Jeannette, Weber, Jonasz Jeremiasz, Richter, Claudia, Honold, Lisa, Weiss, Andreas, Murad, Fabronia, Breuer, Peter, Wüllner, Ullrich, Bellstedt, Peter, Paquet-Durand, Francois, Takano, Jiro, Saido, Takaomi C, Riess, Olaf, Nguyen, Huu Phuc

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Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3 von Chandrasekaran, Jayashree, Petit, Emilien, Park, Young Woo, Montcel, Sophie Tezenas, Joers, James M., Deelchand, Dinesh K., Považan, Michal, Banan, Guita, Valabregue, Romain, Ehses, Philipp, Faber, Jennifer, Coupé, Pierrick, Onyike, Chiadi U., Barker, Peter B., Schmahmann, Jeremy D., Ratai, Eva‐Maria, Subramony, S. H., Mareci, Thomas H., Bushara, Khalaf O., Paulson, Henry, Durr, Alexandra, Klockgether, Thomas, Ashizawa, Tetsuo, Lenglet, Christophe, Öz, Gülin, Rosenthal, Liana, Burns, Matthew, Grobe‐Einsler, Marcus, Oender, Demet, Kimmich, Okka, Roy, Nina, Ewenczyk, Claire, Heinzmann, Anna, Lallemant, Pauline, Heide, Solveig, Charles, Perrine, Coarelli, Giulia, Cunha, Paulina, Sayah, Sabrina, Wilmot, George, Scorr, Laura, Opal, Puneet, Sha, Sharon, Santini, Veronica, Sampson, Jacinda, Perlman, Susan, Geschwind, Michael, Nelson, Alexandra, Dietiker, Cameron, Gomez, Christopher, Hawkins, Trevor, Morrison, Peter

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Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption von Cornelis, M C, Byrne, E M, Esko, T, Nalls, M A, Paynter, N, Monda, K L, Amin, N, Renstrom, F, Cavadino, A, Nolte, I M, Teumer, A, Yu, K, Manichaikul, A, Wojczynski, M K, Vink, J M, Zhao, J H, Burlutsky, G, Lahti, J, Lemaitre, R N, Eriksson, J, Musani, S K, Tanaka, T, Luan, J, Hui, J, Ho, W-K, Magnusson, P K E, Pedersen, N L, Couper, D, Oostra, B A, Tiemeier, H W, Uitterlinden, A G, Barroso, I, Xue, L, Kaakinen, M, Milani, L, Power, C, Baumeister, S E, Biffar, R, Kutalik, Z, Jacobs, D R, Lind, L, Jensen, M, Luben, R N, Wang, J J, Männistö, S, Lehtimäki, T, Viikari, J, Mozaffarian, D, Mukamal, K, Döring, A, Montgomery, G W, Dahmen, N, Tucker, K L, Ferrucci, L, Treur, J L, Mellström, D, Hottenga, J J, Tönjes, A, Deloukas, P, Kanoni, S, Lorentzon, M, Houston, D K, Liu, Y, Mason, M A, Zonderman, A B, Franke, L, Kristal, B S, Karjalainen, J, Reed, D R, Westra, H-J, Evans, M K, Dedoussis, G, Stumvoll, M, Bandinelli, S, Ordovas, J M, Chan, A T, Ohlsson, C, Gieger, C, Martin, N G, Siscovick, D S, Raitakari, O, Eriksson, J G, Mitchell, P, Hunter, D J, Rimm, E B, Borecki, I B, Vollenweider, P, Grabe, H J, Neuhouser, M L, Wolffenbuttel, B H R, Hyppönen, E, Cupples, L A, Franks, P W, van Duijn, C M, Heiss, G, Metspalu, A, North, K E, Ingelsson, E, Nettleton, J A, van Dam, R M

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Genome-wide association study reveals genetic risk underlying Parkinson's disease von Singleton, Andrew B, Gasser, Thomas, Simón-Sánchez, Javier, Schulte, Claudia, Bras, Jose M, Sharma, Manu, Gibbs, J Raphael, Berg, Daniela, Paisan-Ruiz, Coro, Lichtner, Peter, Scholz, Sonja W, Hernandez, Dena G, Krüger, Rejko, Federoff, Monica, Klein, Christine, Goate, Alison, Perlmutter, Joel, Bonin, Michael, Nalls, Michael A, Illig, Thomas, Gieger, Christian, Houlden, Henry, Steffens, Michael, Okun, Michael S, Racette, Brad A, Cookson, Mark R, Foote, Kelly D, Fernandez, Hubert H, Traynor, Bryan J, Schreiber, Stefan, Arepalli, Sampath, Zonozi, Ryan, Gwinn, Katrina, van der Brug, Marcel, Lopez, Grisel, Chanock, Stephen J, Schatzkin, Arthur, Park, Yikyung, Hollenbeck, Albert, Gao, Jianjun, Huang, Xuemei, Wood, Nick W, Lorenz, Delia, Deuschl, Günther, Chen, Honglei, Riess, Olaf, Hardy, John A

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Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition von Siebzehnrübl, Florian A., Raber, Kerstin A., Urbach, Yvonne K., Schulze-Krebs, Anja, Canneva, Fabio, Moceri, Sandra, Habermeyer, Johanna, Achoui, Dalila, Gupta, Bhavana, Steindler, Dennis A., Stephan, Michael, Nguyen, Huu Phuc, Bonin, Michael, Riess, Olaf, Bauer, Andreas, Aigner, Ludwig, Couillard-Despres, Sebastien, Paucar, Martin Arce, Svenningsson, Per, Osmand, Alexander, Andreew, Alexander, Zabel, Claus, Weiss, Andreas, Kuhn, Rainer, Moussaoui, Saliha, Blockx, Ines, Van der Linden, Annemie, Cheong, Rachel Y., Roybon, Laurent, Petersén, Åsa, von Hörsten, Stephan

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The cellular and molecular basis of hyperthermia von Hildebrandt, Bert, Wust, Peter, Ahlers, Olaf, Dieing, Annette, Sreenivasa, Geetha, Kerner, Thoralf, Felix, Roland, Riess, Hanno

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Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia von Rezende, Thiago J.R., Petit, Emilien, Park, Young Woo, Tezenas du Montcel, Sophie, Joers, James M., DuBois, Jonathan M., Moore Arnold, H., Povazan, Michal, Banan, Guita, Valabregue, Romain, Ehses, Philipp, Faber, Jennifer, Coupé, Pierrick, Onyike, Chiadi U., Barker, Peter B., Schmahmann, Jeremy D., Ratai, Eva‐Maria, Subramony, Sub H., Mareci, Thomas H., Bushara, Khalaf O., Paulson, Henry, Klockgether, Thomas, Durr, Alexandra, Ashizawa, Tetsuo, Lenglet, Christophe, Öz, Gülin, Rosenthal, Liana, Burns, Matthew, Grobe‐Einsler, Marcus, Oender, Demet, Koyak, Berkan, Kimmich, Okka, Roy, Nina, Coarelli, Giulia, Ewenczyk, Claire, Heinzmann, Anna, Lallemant, Pauline, Hurmic, Hortense, Wilmot, George, Scorr, Laura, Opal, Puneet, Sha, Sharon, Santini, Veronica, Sampson, Jacinda, Perlman, Susan, Geschwind, Michael, Nelson, Alexandra, Dietiker, Cameron, Gomez, Christopher, Shakkottai, Vikram, Kuo, Sheng‐Han, Hawkins, Trevor, Morrison, Peter, Pulst, Stefan M., Figueroa, Karla P., Fauret‐Amsellem, Anne‐Laure, Forlani, Sylvie, Riess, Olaf

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Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease von Weber, Jonasz J, Haas, Eva, Maringer, Yacine, Hauser, Stefan, Casadei, Nicolas L P, Chishti, Athar H, Riess, Olaf, Hübener-Schmid, Jeannette

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