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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: pramstaller pp. Brain. 2023 Jul 3;146(7):2753-2765. doi: 10.1093/brain/awac464. Brain. 2023. PMID: 36478228 Free PMC article.
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: pramstaller pp. Neurology. 2004 Feb 10;62(3):389-94. doi: 10.1212/01.wnl.0000113022.51739.88. Neurology. 2004. PMID: 14872018
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: pramstaller pp. Neurology. 2004 Feb 10;62(3):395-400. doi: 10.1212/01.wnl.0000113024.84178.f7. Neurology. 2004. PMID: 14872019
Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?
Lohmann-Hedrich K, Neumann A, Kleensang A, Lohnau T, Muhle H, Djarmati A, König IR, Pramstaller PP, Schwinger E, Kramer PL, Ziegler A, Stephani U, Klein C. Lohmann-Hedrich K, et al. Among authors: pramstaller pp. Neurology. 2008 Feb 26;70(9):686-94. doi: 10.1212/01.wnl.0000282760.07650.ba. Epub 2007 Nov 21. Neurology. 2008. PMID: 18032746
ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease.
De Grandi A, Volpato CB, Bedin E, Pattaro C, Marroni F, Pichler I, Hicks AA, Casari G, Pramstaller PP. De Grandi A, et al. Among authors: pramstaller pp. J Mol Neurosci. 2009 Sep;39(1-2):235-41. doi: 10.1007/s12031-009-9193-8. Epub 2009 Mar 25. J Mol Neurosci. 2009. PMID: 19319700
382 results