Browsing Universitätsbibliographie by Author "Dufke, Claudia"

Now showing items 1-10 of 10

A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype

van Der Weijden, Marlous C. M.; Rodriguez-Contreras, Dayana; Delnooz, Catherine C. S.; Robinson, Brooks G.; Condon, Alec F.; Kielhold, Michelle L.; Stormezand, Gilles N.; Ma, Kai Yu; Dufke, Claudia; Williams, John T.; Neve, Kim A.; Tijssen, Marina A. J.; Verbeek, Dineke S. (2021)
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

Dufke, Claudia; Schlipf, Nina; Schuele, Rebecca; Bonin, Michael; Auer-Grumbach, Michaela; Stevanin, Giovanni; Depienne, Christel; Kassubek, Jan; Klebe, Stephan; Klimpe, Sven; Klopstock, Thomas; Otto, Susanne; Poths, Sven; Seibel, Andrea; Stolze, Henning; Gal, Andreas; Schoels, Ludger; Bauer, Peter (2012)
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target

Gomes, Lucas Caldi; Haenzelmann, Sonja; Hausmann, Fabian; Khatri, Robin; Oller, Sergio; Parvaz, Mojan; Tzeplaeff, Laura; Pasetto, Laura; Gebelin, Marie; Ebbing, Melanie; Holzapfel, Constantin; Columbro, Stefano Fabrizio; Scozzari, Serena; Knoeferle, Johanna; Cordts, Isabell; Demleitner, Antonia F.; Deschauer, Marcus; Dufke, Claudia; Sturm, Marc; Zhou, Qihui; Zelina, Pavol; Sudria-Lopez, Emma; Haack, Tobias B.; Streb, Sebastian; Kuzma-Kozakiewicz, Magdalena; Edbauer, Dieter; Pasterkamp, R. Jeroen; Laczko, Endre; Rehrauer, Hubert; Schlapbach, Ralph; Carapito, Christine; Bonetto, Valentina; Bonn, Stefan; Lingor, Paul (2024)
Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1

Herrmann, Laura; Gelderblom, Mathias; Bester, Maxim; Deininger, Natalie; Schuetze, Thorsten; Hidding, Ute; Gross, Caspar; Buena-Atienza, Elena; Dufke, Claudia; Gerloff, Christian; Haack, Tobias B.; Zittel, Simone (2022)
Next Generation Sequencing bei erblichen Dystonien - Untersuchungen im CIZ1, GNAL und TOR1A Gen in einem Kollektiv von Dystonie-Patienten

Dufke, Claudia (2015)
Next generation sequencing of the clonal IGH rearrangement detects ongoing mutations and interfollicular trafficking in in situ follicular neoplasia

Kosmidis, Perikles; Bonzheim, Irina; Dufke, Claudia; Colak, Sema; Hentrich, Thomas; Schroeder, Christopher; Bauer, Peter; Adam, Patrick; Fend, Falko (2017)
Next-generation sequencing in X-linked intellectual disability

Tzschach, Andreas; Grasshoff, Ute; Beck-Woedl, Stefanie; Dufke, Claudia; Bauer, Claudia; Kehrer, Martin; Evers, Christina; Moog, Ute; Oehl-Jaschkowitz, Barbara; Di Donato, Nataliya; Maiwald, Robert; Jung, Christine; Kuechler, Alma; Schulz, Solveig; Meinecke, Peter; Spranger, Stephanie; Kohlhase, Juergen; Seidel, Joerg; Reif, Silke; Rieger, Manuela; Riess, Angelika; Sturm, Marc; Bickmann, Julia; Schroeder, Christopher; Dufke, Andreas; Riess, Olaf; Bauer, Peter (2015)
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

Beijer, Danique; Dohrn, Maike F.; De Winter, Jonathan; Fazal, Sarah; Cortese, Andrea; Stojkovic, Tanya; Fernandez-Eulate, Gorka; Remiche, Gauthier; Gentile, Mattia; Van Coster, Rudy; Dufke, Claudia; Synofzik, Matthis; De Jonghe, Peter; Zuchner, Stephan; Baets, Jonathan (2022)
Screening of Mutations in GNAL in Sporadic Dystonia Patients

Dufke, Claudia; Sturm, Marc; Schroeder, Christopher; Moll, Susanne; Ott, Thomas; Riess, Olaf; Bauer, Peter; Grundmann, Kathrin (2014)
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Czeschik, Johanna Christina; Bauer, Peter; Buiting, Karin; Dufke, Claudia; Guillen-Navarro, Encarna; Johnson, Diana S.; Koehler, Udo; Lopez-Gonzalez, Vanesa; Luedecke, Hermann-Josef; Male, Alison; Morrogh, Deborah; Riess, Angelika; Tzschach, Andreas; Wieczorek, Dagmar; Kuechler, Alma (2013)

Now showing items 1-10 of 10

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