Works by Dufke, Claudia

Results: 12

Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult‐Onset Degenerative Ataxia.

Published in:

Movement Disorders, 2023, v. 38, n. 4, p. 654, doi. 10.1002/mds.29324

By:

Oender, Demet;
Faber, Jennifer;
Wilke, Carlo;
Schaprian, Tamara;
Lakghomi, Asadeh;
Mengel, David;
Schöls, Ludger;
Traschütz, 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

Publication type:

Article

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

Published in:

Movement Disorders, 2021, v. 36, n. 3, p. 729, doi. 10.1002/mds.28385

By:

Weijden, Marlous C.M.;
Rodriguez‐Contreras, Dayana;
Delnooz, Cathérine 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.

Publication type:

Article

Mutations in CIZ1 are not a major cause for dystonia in Germany.

Published in:

Movement Disorders, 2015, v. 30, n. 5, p. 740, doi. 10.1002/mds.26198

By:

Dufke, Claudia;
Hauser, Ann‐Kathrin;
Sturm, Marc;
Fluhr, Susanne;
Wächter, Tobias;
Leube, Barbara;
Auburger, Georg;
Ott, Thomas;
Bauer, Peter;
Gasser, Thomas;
Grundmann, Kathrin

Publication type:

Article

Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49196-y

By:

Caldi Gomes, Lucas;
Hänzelmann, Sonja;
Hausmann, Fabian;
Khatri, Robin;
Oller, Sergio;
Parvaz, Mojan;
Tzeplaeff, Laura;
Pasetto, Laura;
Gebelin, Marie;
Ebbing, Melanie;
Holzapfel, Constantin;
Columbro, Stefano Fabrizio;
Scozzari, Serena;
Knöferle, Johanna;
Cordts, Isabell;
Demleitner, Antonia F.;
Deschauer, Marcus;
Dufke, Claudia;
Sturm, Marc;
Zhou, Qihui

Publication type:

Article

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.

Published in:

Journal of Neurology, 2024, v. 271, n. 5, p. 2886, doi. 10.1007/s00415-024-12229-z

By:

Pellerin, David;
Heindl, Felix;
Traschütz, Andreas;
Rujescu, Dan;
Hartmann, Annette M.;
Brais, Bernard;
Houlden, Henry;
Dufke, Claudia;
Riess, Olaf;
Haack, Tobias;
Strupp, Michael;
Synofzik, Matthis

Publication type:

Article

Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxia.

Published in:

Journal of Neurology, 2023, v. 270, n. 8, p. 4112, doi. 10.1007/s00415-023-11745-8

By:

Fleszar, Zofia;
Dufke, Claudia;
Sturm, Marc;
Schüle, Rebecca;
Schöls, Ludger;
Haack, Tobias B.;
Synofzik, Matthis

Publication type:

Article

Screening of mutations in GNAL in sporadic dystonia patients.

Published in:

Movement Disorders, 2014, v. 29, n. 9, p. 1193, doi. 10.1002/mds.25794

By:

Dufke, Claudia;
Sturm, Marc;
Schroeder, Christopher;
Moll, Susanne;
Ott, Thomas;
Riess, Olaf;
Bauer, Peter;
Grundmann, Kathrin

Publication type:

Article

Next generation sequencing of the clonal IGH rearrangement detects ongoing mutations and interfollicular trafficking in in situ follicular neoplasia.

Published in:

PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178503

By:

Kosmidis, Perikles;
Bonzheim, Irina;
Colak, Sema;
Adam, Patrick;
Fend, Falko;
Dufke, Claudia;
Hentrich, Thomas;
Schroeder, Christopher;
Bauer, Peter

Publication type:

Article

Next-generation sequencing in X-linked intellectual disability.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1513, doi. 10.1038/ejhg.2015.5

By:

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, Jürgen;
Seidel, Jörg;
Reif, Silke;
Rieger, Manuela

Publication type:

Article

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 215, doi. 10.1007/s10048-012-0329-6

By:

Dufke, Claudia;
Schlipf, Nina;
Schüle, 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;
Schöls, Ludger;
Bauer, Peter

Publication type:

Article

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.

Published in:

European Journal of Neurology, 2022, v. 29, n. 7, p. 2156, doi. 10.1111/ene.15310

By:

Beijer, Danique;
Dohrn, Maike F.;
De Winter, Jonathan;
Fazal, Sarah;
Cortese, Andrea;
Stojkovic, Tanya;
Fernández‐Eulate, Gorka;
Remiche, Gauthier;
Gentile, Mattia;
Van Coster, Rudy;
Dufke, Claudia;
Synofzik, Matthis;
De Jonghe, Peter;
Züchner, Stephan;
Baets, Jonathan

Publication type:

Article

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.

Published in:

2013

By:

Czeschik, Johanna Christina;
Bauer, Peter;
Buiting, Karin;
Dufke, Claudia;
Guillén-Navarro, Encarna;
Johnson, Diana S;
Koehler, Udo;
López-González, Vanesa;
Lüdecke, Hermann-Josef;
Male, Alison;
Morrogh, Deborah;
Rieß, Angelika;
Tzschach, Andreas;
Wieczorek, Dagmar;
Kuechler, Alma

Publication type:

journal article