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Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?
Hedrich K, Hagenah J, Djarmati A, Hiller A, Lohnau T, Lasek K, Grünewald A, Hilker R, Steinlechner S, Boston H, Kock N, Schneider-Gold C, Kress W, Siebner H, Binkofski F, Lencer R, Münchau A, Klein C. Hedrich K, et al. Among authors: munchau a. Arch Neurol. 2006 Jun;63(6):833-8. doi: 10.1001/archneur.63.6.833. Arch Neurol. 2006. PMID: 16769864
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
Grünewald A, Breedveld GJ, Lohmann-Hedrich K, Rohé CF, König IR, Hagenah J, Vanacore N, Meco G, Antonini A, Goldwurm S, Lesage S, Dürr A, Binkofski F, Siebner H, Münchau A, Brice A, Oostra BA, Klein C, Bonifati V. Grünewald A, et al. Among authors: munchau a. Neurogenetics. 2007 Apr;8(2):103-9. doi: 10.1007/s10048-006-0072-y. Epub 2007 Jan 12. Neurogenetics. 2007. PMID: 17219214
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Djarmati A, et al. Among authors: munchau a. Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1. Lancet Neurol. 2009. PMID: 19345148
Phenotypic spectrum of musician's dystonia: a task-specific disorder?
Schmidt A, Jabusch HC, Altenmüller E, Enders L, Saunders-Pullman R, Bressman SB, Münchau A, Klein C, Hagenah J. Schmidt A, et al. Among authors: munchau a. Mov Disord. 2011 Feb 15;26(3):546-9. doi: 10.1002/mds.23526. Mov Disord. 2011. PMID: 21462264
438 results