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Mutations in DYT1: extension of the phenotypic and mutational spectrum.
Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman SB, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. Kabakci K, et al. Among authors: vieregge p. Neurology. 2004 Feb 10;62(3):395-400. doi: 10.1212/01.wnl.0000113024.84178.f7. Neurology. 2004. PMID: 14872019
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Klein C, et al. Among authors: vieregge p. Genet Test. 1999;3(4):323-8. doi: 10.1089/gte.1999.3.323. Genet Test. 1999. PMID: 10627938
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang AE, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C. Hedrich K, et al. Among authors: vieregge p. Neurology. 2004 Feb 10;62(3):389-94. doi: 10.1212/01.wnl.0000113022.51739.88. Neurology. 2004. PMID: 14872018
Distribution, type, and origin of Parkin mutations: review and case studies.
Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P. Hedrich K, et al. Among authors: vieregge p. Mov Disord. 2004 Oct;19(10):1146-57. doi: 10.1002/mds.20234. Mov Disord. 2004. PMID: 15390068 Review.
Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease.
Hedrich K, Winkler S, Hagenah J, Kabakci K, Kasten M, Schwinger E, Volkmann J, Pramstaller PP, Kostic V, Vieregge P, Klein C. Hedrich K, et al. Among authors: vieregge p. Mov Disord. 2006 Sep;21(9):1506-10. doi: 10.1002/mds.20990. Mov Disord. 2006. PMID: 16758483
175 results