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Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Trinh J, Hicks AA, König IR, Delcambre S, Lüth T, Schaake S, Wasner K, Ghelfi J, Borsche M, Vilariño-Güell C, Hentati F, Germer EL, Bauer P, Takanashi M, Kostić V, Lang AE, Brüggemann N, Pramstaller PP, Pichler I, Rajput A, Hattori N, Farrer MJ, Lohmann K, Weissensteiner H, May P, Klein C, Grünewald A. Trinh J, et al. Among authors: grunewald a. Brain. 2023 Jul 3;146(7):2753-2765. doi: 10.1093/brain/awac464. Brain. 2023. PMID: 36478228 Free PMC article.
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: grunewald 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. Neurogenetics. 2007 Apr;8(2):103-9. doi: 10.1007/s10048-006-0072-y. Epub 2007 Jan 12. Neurogenetics. 2007. PMID: 17219214
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, Papengut F, Petersen B, Fung V, Sue CM, O'Sullivan D, Mahant N, Kupsch A, Chuang RS, Wiegers K, Pawlack H, Hagenah J, Ozelius LJ, Stephani U, Schuit R, Lang AE, Volkmann J, Münchau A, Klein C. Grünewald A, et al. Hum Mutat. 2008 Feb;29(2):331-2. doi: 10.1002/humu.9521. Hum Mutat. 2008. PMID: 18205193
Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts.
Grünewald A, Voges L, Rakovic A, Kasten M, Vandebona H, Hemmelmann C, Lohmann K, Orolicki S, Ramirez A, Schapira AH, Pramstaller PP, Sue CM, Klein C. Grünewald A, et al. PLoS One. 2010 Sep 27;5(9):e12962. doi: 10.1371/journal.pone.0012962. PLoS One. 2010. PMID: 20885945 Free PMC article.
149 results