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Page 1
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.
Oender D, Faber J, Wilke C, Schaprian T, Lakghomi A, Mengel D, Schöls L, Traschütz A, Fleszar Z, Dufke C, Vielhaber S, Machts J, Giordano I, Grobe-Einsler M, Klopstock T, Stendel C, Boesch S, Nachbauer W, Timmann-Braun D, Thieme AG, Kamm C, Dudesek A, Tallaksen C, Wedding I, Filla A, Schmid M, Synofzik M, Klockgether T. Oender D, et al. Among authors: dufke c. Mov Disord. 2023 Apr;38(4):654-664. doi: 10.1002/mds.29324. Epub 2023 Jan 25. Mov Disord. 2023. PMID: 36695111
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P. Dufke C, et al. Neurogenetics. 2012 Aug;13(3):215-27. doi: 10.1007/s10048-012-0329-6. Epub 2012 May 3. Neurogenetics. 2012. PMID: 22552817
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group. Traschütz A, et al. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.
Traschütz A, Heindl F, Bilal M, Hartmann AM, Dufke C, Riess O, Zwergal A, Rujescu D, Haack T, Synofzik M, Strupp M. Traschütz A, et al. Among authors: dufke c. Neurology. 2023 Sep 5;101(10):e1001-e1013. doi: 10.1212/WNL.0000000000207553. Epub 2023 Jul 17. Neurology. 2023. PMID: 37460231
Mutations in CIZ1 are not a major cause for dystonia in Germany.
Dufke C, Hauser AK, Sturm M, Fluhr S, Wächter T, Leube B, Auburger G, Ott T, Bauer P, Gasser T, Grundmann K. Dufke C, et al. Mov Disord. 2015 Apr 15;30(5):740-3. doi: 10.1002/mds.26198. Epub 2015 Mar 17. Mov Disord. 2015. PMID: 25778706 No abstract available.
15 results