New genetic insights highlight ‘old’ ideas on motor dysfunction in dystonia von Goodchild, Rose E, Grundmann, Kathrin, Pisani, Antonio

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Disturbed brain energy metabolism in a rodent model of DYT-TOR1A dystonia von Knorr, Susanne, Rauschenberger, Lisa, Muthuraman, Muthuraman, McFleder, Rhonda, Ott, Thomas, Grundmann-Hauser, Kathrin, Higuchi, Takahiro, Volkmann, Jens, Ip, Chi Wang

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Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia von Pauly, Martje G., Hellenbroich, Yorck, Grundmann‐Hauser, Kathrin, Hinrichs, Frauke, Lohmann, Katja, Brüggemann, Norbert

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The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory activity of a central moto... von Knorr, Susanne, Rauschenberger, Lisa, Pasos, Uri Ramirez, Friedrich, Maximilian U., Peach, Robert L., Grundmann-Hauser, Kathrin, Ott, Thomas, O'Leary, Aet, Reif, Andreas, Tovote, Philip, Volkmann, Jens, Ip, Chi Wang

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Generation of a novel rodent model for DYT1 dystonia von Grundmann, Kathrin, Glöckle, Nicola, Martella, Giuseppina, Sciamanna, Giuseppe, Hauser, Till-Karsten, Yu, Libo, Castaneda, Salvador, Pichler, Bernd, Fehrenbacher, Birgit, Schaller, Martin, Nuscher, Brigitte, Haass, Christian, Hettich, Jasmin, Yue, Zhenyu, Nguyen, Huu Phuc, Pisani, Antonio, Riess, Olaf, Ott, Thomas

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Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements von Rauschenberger, Lisa, Krenig, Esther-Marie, Stengl, Alea, Knorr, Susanne, Harder, Tristan H., Steeg, Felix, Friedrich, Maximilian U., Grundmann-Hauser, Kathrin, Volkmann, Jens, Ip, Chi Wang

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Impaired dopamine- and adenosine-mediated signaling and plasticity in a novel rodent model for DYT25 dystonia von Yu-Taeger, Libo, Ott, Thomas, Bonsi, Paola, Tomczak, Celina, Wassouf, Zinah, Martella, Giuseppina, Sciamanna, Giuseppe, Imbriani, Paola, Ponterio, Giulia, Tassone, Annalisa, Schulze-Hentrich, Julia M., Goodchild, Rose, Riess, Olaf, Pisani, Antonio, Grundmann-Hauser, Kathrin, Nguyen, Huu Phuc

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Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia von Pogoda, Michaela, Hilke, Franz-Joachim, Lohmann, Ebba, Sturm, Marc, Lenz, Florian, Matthes, Jakob, Muyas, Francesc, Ossowski, Stephan, Hoischen, Alexander, Faust, Ulrike, Sepahi, Ilnaz, Casadei, Nicolas, Poths, Sven, Riess, Olaf, Schroeder, Christopher, Grundmann, Kathrin

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The impact of an audience response system on a summative assessment, a controlled field study von Schmidt, Thorsten, Gazou, Anastasia, Riess, Angelika, Riess, Olaf, Grundmann-Hauser, Kathrin, Falb, Ruth, Schadeck, Malou, Heinrich, Tilman, Abeditashi, Mahkameh, Schmidt, Jana, Mau-Holzmann, Ulrike A., Schnabel, Kai P.

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Nerve Ultrasound as Helpful Tool in Polyneuropathies von Kramer, Magdalena, Grimm, Alexander, Winter, Natalie, Doerner, Marc, Grundmann-Hauser, Kathrin, Stahl, Jan-Hendrik, Wittlinger, Julia, Kegele, Josua, Kronlage, Cornelius, Willikens, Sophia

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Dynamic nuclear envelope phenotype in rats overexpressing mutated human torsinA protein von Yu-Taeger, Libo, Gaiser, Viktoria, Lotzer, Larissa, Roenisch, Tina, Fabry, Benedikt Timo, Stricker-Shaver, Janice, Casadei, Nicolas, Walter, Michael, Schaller, Martin, Riess, Olaf, Nguyen, Huu Phuc, Ott, Thomas, Grundmann-Hauser, Kathrin

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Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia von Cheng, Fubo, Walter, Michael, Wassouf, Zinah, Hentrich, Thomas, Casadei, Nicolas, Schulze-Hentrich, Julia, Barbuti, Peter, Krueger, Rejko, Riess, Olaf, Grundmann-Hauser, Kathrin, Ott, Thomas

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Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis von Zimmermann, Milan, Deininger, Natalie, Willikens, Sophia, Haack, Tobias B., Grundmann-Hauser, Kathrin, Streubel, Berthold, Schreiber, Melanie, Lerche, Holger, Grimm, Alexander

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Needs and Requirements of Modern Biobanks on the Example of Dystonia Syndromes von Lohmann, Ebba, Gasser, Thomas, Grundmann, Kathrin

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Screening of mutations in GNAL in sporadic dystonia patients von Dufke, Claudia, Sturm, Marc, Schroeder, Christopher, Moll, Susanne, Ott, Thomas, Riess, Olaf, Bauer, Peter, Grundmann, Kathrin

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New genetic insights highlight 'old' ideas on motor dysfunction in dystonia von Goodchild, Rose, Grundmann, Kathrin, Pisani, Antonio

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Mutations in CIZ1 are not a major cause for dystonia in Germany von Dufke, Claudia, Hauser, Ann-Kathrin, Sturm, Marc, Fluhr, Susanne, Wächter, Tobias, Leube, Barbara, Auburger, Georg, Ott, Thomas, Bauer, Peter, Gasser, Thomas, Grundmann, Kathrin

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HBOC multi-gene panel testing: comparison of two sequencing centers von Schroeder, Christopher, Faust, Ulrike, Sturm, Marc, Hackmann, Karl, Grundmann, Kathrin, Harmuth, Florian, Bosse, Kristin, Kehrer, Martin, Benkert, Tanja, Klink, Barbara, Mackenroth, Luisa, Betcheva-Krajcir, Elitza, Wimberger, Pauline, Kast, Karin, Heilig, Mechthilde, Nguyen, Huu Phuc, Riess, Olaf, Schröck, Evelin, Bauer, Peter, Rump, Andreas

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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors von Hsieh, Tzung-Chien, Bar-Haim, Aviram, Moosa, Shahida, Ehmke, Nadja, Gripp, Karen W., Pantel, Jean Tori, Danyel, Magdalena, Mensah, Martin Atta, Horn, Denise, Rosnev, Stanislav, Fleischer, Nicole, Bonini, Guilherme, Hustinx, Alexander, Schmid, Alexander, Knaus, Alexej, Javanmardi, Behnam, Klinkhammer, Hannah, Lesmann, Hellen, Sivalingam, Sugirthan, Kamphans, Tom, Meiswinkel, Wolfgang, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Schmidt, Axel, Peters, Sophia, Engels, Hartmut, Mangold, Elisabeth, Kreiß, Martina, Cremer, Kirsten, Perne, Claudia, Betz, Regina C., Bender, Tim, Grundmann-Hauser, Kathrin, Haack, Tobias B., Wagner, Matias, Brunet, Theresa, Bentzen, Heidi Beate, Averdunk, Luisa, Coetzer, Kimberly Christine, Lyon, Gholson J., Spielmann, Malte, Schaaf, Christian P., Mundlos, Stefan, Nöthen, Markus M., Krawitz, Peter M.

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Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia von Cheng, Fu-Bo, Feng, Jia-Chun, Ma, Ling-Yan, Miao, Jing, Ott, Thomas, Wan, Xin-Hua, Grundmann, Kathrin

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