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Propensity-matched analysis comparing omaveloxolone treatment to Friedreich ataxia natural history data: a plain language summary Lynch, David R.; Goldsberry, Angie; Rummey, Christian; Farmer, Jennifer; Boesch, Sylvia; Delatycki, Martin B.; Giunti, Paola; Hoyle, J. Chad; Mariotti, Caterina; Mathews, Katherine D.; Nachbauer, Wolfgang; Perlman, Susan; Subramony, Sub H.; Wilmot, George; Zesiewicz, Theresa; Weissfeld, Lisa; Meyer, Colin Share Save
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Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia Sorrentino, Ugo; Pavlov, Martin; Mirza-Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M.; Wagner, Matias; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne; Di Fonzo, Alessio; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra; Tautanova, Raushana; Losecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan; Skorvanek, Matej; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Oexle, Konrad; Graf, Elisabeth; Zech, Michael Share Save
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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia 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; Mourao, Andre Santos Dias; 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 Share Save
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort Beijer, Danique; Mengel, David; Onder, Demet; Wilke, Carlo; Traschuetz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; Warrenburg, Bart P. van de; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Riess, Olaf; Schoels, Ludger; Haack, Tobias; Zuechner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis Share Save
Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia Chen, Shihan; Ashton, Catherine; Sakalla, Rawan; Clement, Guillemette; Planel, Sophie; Bonnet, Celine; Lamont, Phillipa J.; Kulanthaivelu, Karthik; Nalini, Atchayaram; Houlden, Henry; Duquette, Antoine; Dicaire, Marie-Josee; Iruzubieta Agudo, Pablo; Ruiz-Martinez, Javier; Marco De Lucas, Enrique; Sutil Berjon, Rodrigo; Infante Ceberio, Jon; Indelicato, Elisabetta; Boesch, Sylvia M.; Synofzik, Matthis; Bender, Benjamin; Danzi, Matt C.; Zuchner, Stephan; Pellerin, David; Brais, Bernard; Renaud, Mathilde; La Piana, Roberta Share Save
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Atypical ADCY5-related movement disorders: Highlighting adolescent/ adult-onset cervical dystonia Quazza, Floriane; Riant, Florence; Patera, Martina; Suppa, Antonio; Satolli, Sara; Burglen, Lydie; Zech, Michael; Boesch, Sylvia; Indelicato, Elisabetta; Hainque, Elodie; Apartis, Emmanuelle; Rodriguez, Diana; Doummar, Diane; Meneret, Aurelie; Ravelli, Claudia Share Save
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The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from ENIGMA-Ataxia Robertson, Jason W.; Adanyeguh, Isaac; Bender, Benjamin; Boesch, Sylvia; Brunetti, Arturo; Deistung, Andreas; Diciotti, Stefano; Dogan, Imis; Durr, Alexandra; Goericke, Sophia L.; Grisoli, Marina; Han, Shuo; Mariotti, Caterina; Marzi, Chiara; Mascalchi, Mario; Mochel, Fanny; Nachbauer, Wolfgang; Nanetti, Lorenzo; Nigri, Anna; Ono, Sergio E.; Onyike, Chiadi U.; Prince, Jerry L.; Reetz, Kathrin; Romanzetti, Sandro; Sacca, Francesco; Synofzik, Matthis; Teive, Helio A. Ghizoni; Thomopoulos, Sophia I.; Thompson, Paul M.; Timmann, Dagmar; Ying, Sarah H.; Harding, Ian H.; Hernandez-Castillo, Carlos R. Share Save
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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. Share Save
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