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Page 1
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: kamm c. Mov Disord. 2024 Nov;39(11):2110-2116. doi: 10.1002/mds.29968. Epub 2024 Sep 17. Mov Disord. 2024. PMID: 39287592
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: kamm c. Mov Disord. 2024 Mar;39(3):526-538. doi: 10.1002/mds.29693. Epub 2024 Jan 12. Mov Disord. 2024. PMID: 38214203
Novel GNAL mutations in two German patients with sporadic dystonia.
Ziegan J, Wittstock M, Westenberger A, Dobričić V, Wolters A, Benecke R, Klein C, Kamm C. Ziegan J, et al. Among authors: kamm c. Mov Disord. 2014 Dec;29(14):1833-4. doi: 10.1002/mds.26066. Epub 2014 Nov 7. Mov Disord. 2014. PMID: 25382112 No abstract available.
The role of mutations in COL6A3 in isolated dystonia.
Lohmann K, Schlicht F, Svetel M, Hinrichs F, Zittel S, Graf J, Lohnau T, Schmidt A, Mir P, Krause P, Lang AE, Jabusch HC, Wolters A, Kamm C, Zeuner KE, Altenmüller E, Naz S, Chung SJ, Kostic VS, Münchau A, Kühn AA, Brüggemann N, Klein C. Lohmann K, et al. Among authors: kamm c. J Neurol. 2016 Apr;263(4):730-4. doi: 10.1007/s00415-016-8046-y. Epub 2016 Feb 12. J Neurol. 2016. PMID: 26872670
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia.
Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, Moro E, Steigerwald F, Wittstock M, Tronnier V, Lozano AM, Hamani C, Poon YY, Zittel S, Wächter T, Deuschl G, Krüger R, Kupsch A, Münchau A, Lohmann K, Volkmann J, Klein C. Brüggemann N, et al. Among authors: kamm c. Neurology. 2015 Mar 3;84(9):895-903. doi: 10.1212/WNL.0000000000001312. Epub 2015 Feb 4. Neurology. 2015. PMID: 25653290 Free PMC article.
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.
Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K. Walter M, et al. Among authors: kamm c. Neurobiol Dis. 2010 May;38(2):192-200. doi: 10.1016/j.nbd.2009.12.019. Epub 2010 Jan 4. Neurobiol Dis. 2010. PMID: 20053375
No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia.
Kamm C, Uflacker N, Asmus F, Schrader C, Wolters A, Wittstock M, Pahnke J, Gasser T, Volkmann J, Münchau A, Hagenah J, Benecke R, Klein C, Lohmann K. Kamm C, et al. Mov Disord. 2011 Sep;26(11):2136-7. doi: 10.1002/mds.23777. Epub 2011 Jun 2. Mov Disord. 2011. PMID: 21638323 No abstract available.
181 results