未登录 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 散发性成人起病性退行性共济失调的遗传景观：一项对377例SPORTAX队列纵向多中心研究连续患者的多模式遗传学研究 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 分享 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
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study Guenther, Rene; Wurster, Claudia Diana; Brakemeier, Svenja; Osmanovic, Alma; Schreiber-Katz, Olivia; Petri, Susanne; Uzelac, Zeljko; Hiebeler, Miriam; Thiele, Simone; Walter, Maggie C.; Weiler, Markus; Kessler, Tobias; Freigang, Maren; Lapp, Hanna Sophie; Cordts, Isabell; Lingor, Paul; Deschauer, Marcus; Hahn, Andreas; Martakis, Kyriakos; Steinbach, Robert; Ilse, Benjamin; Roediger, Annekathrin; Bellut, Julia; Nentwich, Julia; Zeller, Daniel; Muhandes, Mohamad Tareq; Baum, Tobias; Koch, Jan Christoph; Schrank, Bertold; Fischer, Sophie; Hermann, Andreas; Kamm, Christoph; Naegel, Steffen; Mensch, Alexander; Weber, Markus; Neuwirth, Christoph; Lehmann, Helmar C.; Wunderlich, Gilbert; Stadler, Christian; Tomforde, Maike; George, Annette; Gross, Martin; Pechmann, Astrid; Kirschner, Janbernd; Tuerk, Matthias; Schimmel, Mareike; Bernert, Guenther; Martin, Pascal; Rauscher, Christian; Hoerste, Gerd Meyer zu; Baum, Petra; Loescher, Wolfgang; Flotats-Bastardas, Marina; Koehler, Cornelia; Probst-Schendzielorz, Kristina; Goldbach, Susanne; Schara-Schmidt, Ulrike; Mueller-Felber, Wolfgang; Lochmueller, Hanns; von Velsen, Otgonzul; Kleinschnitz, Christoph; Ludolph, Albert C.; Hagenacker, Tim 分享 收藏
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes 大规模筛选: 分离和组合的肌张力障碍基因的表型和突变谱 Thomsen, Mirja; Marth, Katrin; Loens, Sebastian; Everding, Judith; Junker, Johanna; Borngraeber, Friederike; Ott, Fabian; Jesus, Silvia; Gelderblom, Mathias; Odorfer, Thorsten; Kuhlenbaeumer, Gregor; Kim, Han-Joon; Schaeffer, Eva; Becktepe, Jos; Kasten, Meike; Brueggemann, Norbert; Pfister, Robert; Kollewe, Katja; Krauss, Joachim K.; Lohmann, Ebba; Hinrichs, Frauke; Berg, Daniela; Jeon, Beomseok; Busch, Hauke; Altenmueller, Eckart; Mir, Pablo; Kamm, Christoph; Volkmann, Jens; Zittel, Simone; Ferbert, Andreas; Zeuner, Kirsten E.; Rolfs, Arndt; Bauer, Peter; Kuehn, Andrea A.; Baeumer, Tobias; Klein, Christine; Lohmann, Katja 分享 收藏
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis Kern, Jan; Boehringer, Judith; Timmann, Dagmar; Trollmann, Regina; Stendel, Claudia; Kamm, Cristoph; Roebl, Markus; Santhanakumaran, Vidiyaah; Groeschel, Samuel; Beck-Woedl, Stefanie; Goericke, Sophia; Kraegeloh-Mann, Ingeborg; Synofzik, Matthis 分享 收藏
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients Traschuetz, Andreas D.; Adarmes-Gomez, Astrid; Anheim, Mathieu; Baets, Jonathan; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Doss, Sarah; Hanagasi, Hasmet A.; Kamm, Christoph; Klivenyi, Peter; Klockgether, Thomas; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde M.; Santorelli, Filippo; Schoels, Ludger; Thieme, Andreas; Vielhaber, Stefan P.; van de Warrenburg, Bart; Zanni, Ginevra; Hilgers, Ralf-Dieter; Synofzik, Matthis 分享 收藏
Tremor is associated with familial clustering of dystonia Loens, Sebastian; Hamami, Feline; Lohmann, Katja; Odorfer, Thorsten; Ip, Chi Wang; Zittel, Simone; Zeuner, Kirsten E.; Everding, Judith; Becktepe, Jos; Marth, Katrin; Borngraeber, Friederike; Kollewe, Katja; Kamm, Christoph; Kuehn, Andrea A.; Gelderblom, Mathias; Volkmann, Jens; Klein, Christine; Baeumer, Tobias 分享 收藏
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients Traschuetz, Andreas; Adarmes-Gomez, Astrid D.; Anheim, Mathieu; Baets, Jonathan; Falkenburger, Bjoern H.; Gburek-Augustat, Janina; Doss, Sarah; Kamm, Christoph; Klivenyi, Peter; Grobe-Einsler, Marcus; Klopstock, Thomas; Minnerop, Martina; Munchau, Alexander; Pane, Chiara; Renaud, Mathilde; Santorelli, Filippo M.; Schoels, Ludger; Timmann, Dagmar; Vielhaber, Stefan; Haack, Tobias B.; van de Warrenburg, Bart P.; Zanni, Ginevra; Synofzik, Matthis 分享 收藏
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia Oender, Demet; Faber, Jennifer; Wilke, Carlo; Schaprian, Tamara; Lakghomi, Asadeh; Mengel, David; Schoels, Ludger; Traschuetz, Andreas; Fleszar, Zofia; Dufke, Claudia; Vielhaber, Stefan; Machts, Judith; Giordano, Ilaria; Grobe-Einsler, Marcus; Klopstock, Thomas; Stendel, Claudia; Boesch, Sylvia; Nachbauer, Wolfgang; Timmann-Braun, Dagmar; Thieme, Andreas Gustafsson; Kamm, Christoph; Dudesek, Ales; Tallaksen, Chantal; Wedding, Iselin; Filla, Alessandro; Schmid, Matthias; Synofzik, Matthis; Klockgether, Thomas 分享 收藏
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study Nusinersen治疗期间步行距离的改善-一项为期3年的前瞻性SMArtCARE注册研究 Pechmann, Astrid; Behrens, Max; Doernbrack, Katharina; Tassoni, Adrian; Wenzel, Franziska; Stein, Sabine; Vogt, Sibylle; Zoeller, Daniela; Bernert, Gunther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Walter, Maggie C.; Steinbach, Meike; Blaschek, Astrid; Baumann, Matthias; Baumgartner, Manuela; Becker, Benedikt; Flotats-Bastardas, Marina; Friese, Johannes; Guenther, Rene; Hahn, Andreas; Kuepper, Hanna; Johannsen, Jessika; Kamm, Christoph; Koch, Jan Christoph; Koehler, Cornelia; Koelbel, Heike; Kolzter, Kirsten; von Moers, Arpad; Naegel, Steffen; Neuwirth, Christoph; Petri, Susanne; Roediger, Annekathrin; Schimmel, Mareike; Schrank, Bertold; Schreiber, Gudrun; Smitka, Martin; Stadler, Christian; Steiner, Elisabeth; Stogmann, Eva; Trollmann, Regina; Tuerk, Matthias; Weiler, Markus; Stoltenburg, Corinna; Willichowsky, Ekkehard; Zeller, Daniel; Ziegler, Andreas; Lochmueller, Hanns; Kirschner, Janbernd 分享 收藏
Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy Binz, Camilla; Osmanovic, Alma; Thomas, Nele H.; Stolte, Benjamin; Freigang, Maren; Cordts, Isabell; Griep, Ramona; Uzelac, Zeljko; Wurster, Claudia D.; Kamm, Christoph; Siegler, Hannah A.; Wieselmann, Gary; Hermann, Andreas; Lingor, Paul; Deschauer, Marcus; Ludolph, Albert C.; Meyer, Thomas; Guenther, Rene; Hagenacker, Tim; Petri, Susanne; Schreiber-Katz, Olivia 分享 收藏
Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment 诺西那生钠治疗下成人脊髓性肌萎缩症患者的血清肌酸激酶和肌酐水平 Freigang, Maren; Wurster, Claudia D.; Hagenacker, Tim; Stolte, Benjamin; Weiler, Markus; Kamm, Christoph; Schreiber-Katz, Olivia; Osmanovic, Alma; Petri, Susanne; Kowski, Alexander; Meyer, Thomas; Koch, Jan C.; Cordts, Isabell; Deschauer, Marcus; Lingor, Paul; Aust, Elisa; Petzold, Daniel; Ludolph, Albert C.; Falkenburger, Bjoern; Hermann, Andreas; Guenther, Rene 分享 收藏
Frequency and risk factors of antibody-induced secondary failure of botulinum neurotoxin therapy Walter, Uwe; Muehlenhoff, Christopher; Benecke, Reiner; Dressler, Dirk; Mix, Eilhard; Alt, Janes; Wittstock, Matthias; Dudesek, Ales; Storch, Alexander; Kamm, Christoph 分享 收藏
Prominent White Matter Involvement in Multiple System Atrophy of Cerebellar Type Faber, Jennifer; Giordano, Ilaria; Jiang, Xueyan; Kindler, Christine; Spottke, Annika; Acosta-Cabronero, Julio; Nestor, Peter J.; Machts, Judith; Duezel, Emrah; Vielhaber, Stefan; Speck, Oliver; Dudesek, Ales; Kamm, Christoph; Scheef, Lukas; Klockgether, Thomas 分享 收藏
Validation of a self-completed Dystonia Non-Motor Symptoms Questionnaire Klingelhoefer, Lisa; Chaudhuri, Kallol R.; Kamm, Christoph; Martinez-Martin, Pablo; Bhatia, Kailash; Sauerbier, Anna; Kaiser, Maximilian; Rodriguez-Blazquez, Carmen; Balint, Bettina; Untucht, Robert; Hall, Lynsey J.; Mildenstein, Lauritz; Wienecke, Miriam; Martino, Davide; Gregor, Olaf; Storch, Alexander; Reichmann, Heinz 分享 收藏
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P. C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schoels, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria Grazia; Monin, Marie-Lorraine; De Bleecker, Jan; Migeotte, Isabelle; Charles, Perrine; Bassi, Maria Teresa; Klopstock, Thomas; Mochel, Fanny; Ollagnon-Roman, Elisabeth; D'Hooghe, Marc; Kamm, Christoph; Kurzwelly, Delia; Papin, Melanie; Davoine, Claire-Sophie; Banneau, Guillaume; du Montcel, Sophie Tezenas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni; Durr, Alexandra 分享 收藏
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schoels, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Boesch, Sylvia; Eigentler, Andreas; van de Warrenburg, Bart; van Gaalen, Judith; Kamm, Christoph; Dudesek, Ales; Kang, Jun-Suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; du Montcel, Sophie Tezenas; Klockgether, Thomas 分享 收藏
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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients Schuele, Rebecca; Wiethoff, Sarah; Martus, Peter; Karle, Kathrin N.; Otto, Susanne; Klebe, Stephan; Klimpe, Sven; Gallenmueller, Constanze; Kurzwelly, Delia; Henkel, Dorothea; Rimmele, Florian; Stolze, Henning; Kohl, Zacharias; Kassubek, Jan; Klockgether, Thomas; Vielhaber, Stefan; Kamm, Christoph; Klopstock, Thomas; Bauer, Peter; Zuechner, Stephan; Liepelt-Scarfone, Inga; Schoels, Ludger 分享 收藏
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