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The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort 在不同的HD队列中，同义HTT中断丢失和中断重复变体的频率和临床影响 Dawson, Jessica; Kay, Chris; Black, Hailey Findlay; Bortnick, Stephanie; Javier, Kyla; Xia, Qingwen; Sandhu, Akshdeep; Buchanan, Christina; Hogg, Virginia; Chang, Florence C. F.; Goto, Jun; Arning, Larissa; Saft, Carsten; Bijlsma, Emilia K.; Nguyen, Huu P.; Roxburgh, Richard; Hayden, Michael R. 分享 收藏
NEMO reshapes the α-Synuclein aggregate interface and acts as an autophagy adapter by co-condensation with p62 Furthmann, Nikolas; Bader, Verian; Angersbach, Lena; Blusch, Alina; Goel, Simran; Sanchez-Vicente, Ana; Krause, Laura J.; Chaban, Sarah A.; Grover, Prerna; Trinkaus, Victoria A.; van Well, Eva M.; Jaugstetter, Maximilian; Tschulik, Kristina; Damgaard, Rune Busk; Saft, Carsten; Ellrichmann, Gisa; Gold, Ralf; Koch, Arend; Englert, Benjamin; Westenberger, Ana; Klein, Christine; Jungbluth, Lisa; Sachse, Carsten; Behrends, Christian; Glatzel, Markus; Hartl, F. Ulrich; Nakamura, Ken; Christine, Chadwick W.; Huang, Eric J.; Tatzelt, Jorg; Winklhofer, Konstanze F. 分享 收藏
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Differential diagnosis of chorea (guidelines of the German Neurological Society) Saft, Carsten; Burgunder, Jean-Marc; Dose, Matthias; Jung, Hans Heinrich; Katzenschlager, Regina; Priller, Josef; Nguyen, Huu Phuc; Reetz, Kathrin; Reilmann, Ralf; Seppi, Klaus; Landwehrmeyer, Georg Bernhard 分享 收藏
Symptomatic treatment options for Huntington's disease (guidelines of the German Neurological Society) Saft, Carsten; Burgunder, Jean-Marc; Dose, Matthias; Jung, Hans Heinrich; Katzenschlager, Regina; Priller, Josef; Nguyen, Huu Phuc; Reetz, Kathrin; Reilmann, Ralf; Seppi, Klaus; Landwehrmeyer, Georg Bernhard 分享 收藏
Evidences for Mutant Huntingtin Inducing Musculoskeletal and Brain Growth Impairments via Disturbing Testosterone Biosynthesis in Male Huntington Disease Animals Yu-Taeger, Libo; Novati, Arianna; Weber, Jonasz Jeremiasz; Singer-Mikosch, Elisabeth; Pabst, Ann-Sophie; Cheng, Fubo; Saft, Carsten; Koenig, Jennifer; Ellrichmann, Gisa; Heikkinen, Taneli; Pouladi, Mahmoud A.; Riess, Olaf; Nguyen, Huu Phuc 分享 收藏
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MUTANT HUNTINGTIN IMPAIRS MUSCULOSKELETAL AND BRAIN GROWTH VIA DISTURBING TESTOSTERONE BIOSYNTHESIS IN MALE HUNTINGTON DISEASE ANIMALS Yu-Taeger, Libo; Novati, Arianna; Weber, Jonasz Jeremiasz; Singer-Mikosch, Elisabeth; Pabst, Ann-Sophie; Saft, Carsten; Koenig, Jennifer; Ellrichmann, Gisa; Heikkinen, Taneli; Pouladi, Mahmoud A.; Riess, Olaf; Nguyen, Huu Phuc 分享 收藏
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Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia Park, Joohyun; Reilaender, Annemarie; Petry-Schmelzer, Jan N.; Stoebe, Petra; Cordts, Isabell; Harmuth, Florian; Rautenberg, Maren; Woerz, Sarah E.; Demidov, German; Sturm, Marc; Ossowski, Stephan; Schwaibold, Eva M. C.; Wunderlich, Gilbert; Paus, Sebastian; Saft, Carsten; Haack, Tobias B. 分享 收藏
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Teaching Video NeuroImage: New STUB1 Variant Causes Chorea, Tremor, Dystonia, Myoclonus, Ataxia, Depression, Cognitive Impairment, Epilepsy, and Superficial Siderosis Saft, Carsten; Skodda, Sabine; Nguyen, Huu Phuc; Park, Joohyun; Haack, Tobias B. 分享 收藏
NOVEL MUTATIONS AND FINDINGS IN A COHORT OF MCLEOD NEUROACANTHOCYTOSIS, AN X-LINKED HD PHENOCOPY Peikert, Kevin; Schlotter-Weigel, Beate; Montagnese, Federica; Reilich, Peter; Saft, Carsten; Marxreiter, Franz; Kohl, Zacharias; Evers, Stefan; von Kalckreuth, Wolfgang; Buhmann, Carsten; Mayer, Beate; Walther, Ernst; Orth, Armin; Hoenig, Manfred; Nedeltchev, Krassen; Loscher, Wolfgang N.; Jung, Hans H.; Mattle-Greminger, Maja; Frey, Beat M.; Hermann, Andreas; Danek, Adrian 分享 收藏
A JOINT INITIATIVE FOR IMPROVED CARE OF HUNTINGTON'S DISEASE PATIENTS IN GERMANY Winkelmann, Michaela; Maier, Jochen; Ulrich, Hannelore; Vogel, Carmen; Ritter, Gabriele; Bernhard, U.; Anne, B.; Reuter, Ines; Kretschmann, Anita; Glasl, Jeanette; Muehlbaeck, Alzbeta; Werner, Cornelius; Schumann-Werner, Beate; Overbeck, Rena; Reetz, Kathrin; Sass, Christian; Lang, Michael; Reilmann, Ralf; Saft, Carsten; Landwehrmeyer, Bernhard 分享 收藏
Cardiac manifestation is evident in chorea-acanthocytosis but different from McLeod syndrome 心脏表现在舞蹈病-棘红细胞增多症中很明显，但与McLeod综合征不同 Quick, Silvio; Heidrich, Felix Matthias; Winkler, Max-Valentin; Winkler, Anna Helene; Ibrahim, Karim; Linke, Axel; Speiser, Uwe; Grabmaier, Ulrich; Buhmann, Carsten; Marxreiter, Franz; Saft, Carsten; Danek, Adrian; Hermann, Andreas; Peikert, Kevin 分享 收藏
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