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Page 1
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M, Marth K, Loens S, Everding J, Junker J, Borngräber F, Ott F, Jesús S, Gelderblom M, Odorfer T, Kuhlenbäumer G, Kim HJ, Schaeffer E, Becktepe J, Kasten M, Brüggemann N, Pfister R, Kollewe K, Krauss JK, Lohmann E, Hinrichs F, Berg D, Jeon B, Busch H, Altenmüller E, Mir P, Kamm C, Volkmann J, Zittel S, Ferbert A, Zeuner KE, Rolfs A, Bauer P, Kühn AA, Bäumer T, Klein C, Lohmann K. Thomsen M, et al. Among authors: kuhn aa. Mov Disord. 2024 Mar;39(3):526-538. doi: 10.1002/mds.29693. Epub 2024 Jan 12. Mov Disord. 2024. PMID: 38214203
The Progressive Supranuclear Palsy Clinical Deficits Scale.
Piot I, Schweyer K, Respondek G, Stamelou M; DescribePSP study group; ProPSP study group; MDS-endorsed PSP study group; Sckopke P, Schenk T, Goetz CG, Stebbins GT, Höglinger GU. Piot I, et al. Mov Disord. 2020 Apr;35(4):650-661. doi: 10.1002/mds.27964. Epub 2020 Jan 17. Mov Disord. 2020. PMID: 31951049
Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants.
Usnich T, Olmedillas M, Schell N, Paul JJ, Curado F, Skobalj S, Csoti I, Ertan S, Gruber D, Zittel S, Sammler E, Isaacson SH, Kühn AA, Pedrosa DJ, Reetz K, Kasten M, Rolfs A, Bauer P, Skrahina V, Klein C, Brüggemann N; LIPAD Study Group. Usnich T, et al. Among authors: kuhn aa. Parkinsonism Relat Disord. 2023 Feb;107:105248. doi: 10.1016/j.parkreldis.2022.105248. Epub 2022 Dec 17. Parkinsonism Relat Disord. 2023. PMID: 36565535 No abstract available.
Tremor is associated with familial clustering of dystonia.
Loens S, Hamami F, Lohmann K, Odorfer T, Ip CW, Zittel S, Zeuner KE, Everding J, Becktepe J, Marth K, Borngräber F, Kollewe K, Kamm C, Kühn AA, Gelderblom M, Volkmann J, Klein C, Bäumer T. Loens S, et al. Among authors: kuhn aa. Parkinsonism Relat Disord. 2023 May;110:105400. doi: 10.1016/j.parkreldis.2023.105400. Epub 2023 Apr 12. Parkinsonism Relat Disord. 2023. PMID: 37086575
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Harrer P, Škorvánek M, Kittke V, Dzinovic I, Borngräber F, Thomsen M, Mandel V, Svorenova T, Ostrozovicova M, Kulcsarova K, Berutti R, Busch H, Ott F, Kopajtich R, Prokisch H, Kumar KR, Mencacci NE, Kurian MA, Di Fonzo A, Boesch S, Kühn AA, Blümlein U, Lohmann K, Haslinger B, Weise D, Jech R, Winkelmann J, Zech M. Harrer P, et al. Among authors: kuhn aa. Mov Disord. 2023 Oct;38(10):1914-1924. doi: 10.1002/mds.29562. Epub 2023 Jul 23. Mov Disord. 2023. PMID: 37485550
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.
Laabs BH, Lohmann K, Vollstedt EJ, Reinberger T, Nuxoll LM, Kilic-Berkmen G, Perlmutter JS, Loens S, Cruchaga C, Franke A, Dobricic V, Hinrichs F, Grözinger A, Altenmüller E, Bellows S, Boesch S, Bressman SB, Duque KR, Espay AJ, Ferbert A, Feuerstein JS, Frank S, Gasser T, Haslinger B, Jech R, Kaiser F, Kamm C, Kollewe K, Kühn AA, LeDoux MS, Lohmann E, Mahajan A, Münchau A, Multhaupt-Buell T, Pantelyat A, Pirio Richardson SE, Raymond D, Reich SG, Saunders Pullman R, Schormair B, Sharma N, Sichani AH, Simonyan K, Volkmann J, Wagle Shukla A, Winkelmann J, Wright LJ, Zech M, Zeuner KE, Zittel S, Kasten M, Sun YV, Bäumer T, Brüggemann N, Ozelius LJ, Jinnah HA, Klein C, König IR. Laabs BH, et al. Among authors: kuhn aa. Mov Disord. 2024 Nov;39(11):2110-2116. doi: 10.1002/mds.29968. Epub 2024 Sep 17. Mov Disord. 2024. PMID: 39287592
Gait Variability as a Potential Motor Marker of Cerebellar Disease-Relationship between Variability of Stride, Arm Swing and Trunk Movements, and Walking Speed.
Kroneberg D, Nümann A, Minnerop M, Rönnefarth M, Endres M, Kühn AA, Paul F, Doss S, Solbrig S, Elshehabi M, Maetzler W, Schmitz-Hübsch T. Kroneberg D, et al. Among authors: kuhn aa. Sensors (Basel). 2024 May 28;24(11):3476. doi: 10.3390/s24113476. Sensors (Basel). 2024. PMID: 38894268 Free PMC article.
Single-center experience of utilization and clinical efficacy of segmented leads for subthalamic deep brain stimulation in Parkinson's disease.
de Almeida Marcelino AL, Heinz V, Astalosch M, Al-Fatly B, Schneider GH, Krause P, Kübler-Weller D, Kühn AA. de Almeida Marcelino AL, et al. Among authors: kuhn aa. Clin Park Relat Disord. 2024 Sep 27;11:100273. doi: 10.1016/j.prdoa.2024.100273. eCollection 2024. Clin Park Relat Disord. 2024. PMID: 39429237 Free PMC article.
312 results