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Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.
Wang L, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschländer A, Eckstein G, Farrer MJ, Goldwurm S, Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Klein C, Jeon B, Kim YJ, Lesage S, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pihlstrøm L, Pramstaller PP, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Silburn PA, Theuns J, Tan EK, Tomiyama H, Toft M, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore DM, Krüger R, Sharma M; GEO-PD Consortium. Wang L, et al. Among authors: pramstaller pp. Neurology. 2015 Oct 13;85(15):1283-92. doi: 10.1212/WNL.0000000000002016. Epub 2015 Sep 9. Neurology. 2015. PMID: 26354989 Free PMC article.
Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism.
Kock N, Müller B, Vieregge P, Pramstaller PP, Marder K, Abbruzzese G, Martinelli P, Lang AE, Jacobs H, Hagenah J, Harris J, Meija-Santana H, Fahn S, Hedrich K, Kann M, Gehlken U, Culjkovic B, Schwinger E, Wszolek ZK, Zühlke C, Klein C. Kock N, et al. Among authors: pramstaller pp. Ann Neurol. 2002 Aug;52(2):257-8; author reply 258. doi: 10.1002/ana.10270. Ann Neurol. 2002. PMID: 12210804 No abstract available.
Frequency of parkin mutations in late-onset Parkinson's disease.
Klein C, Hedrich K, Wellenbrock C, Kann M, Harris J, Marder K, Lang AE, Schwinger E, Ozelius LJ, Vieregge P, Pramstaller PP, Kramer PL. Klein C, et al. Among authors: pramstaller pp. Ann Neurol. 2003 Sep;54(3):415-6; author reply 416-7. doi: 10.1002/ana.10737. Ann Neurol. 2003. PMID: 12953277 No abstract available.
The R98Q variation in DJ-1 represents a rare polymorphism.
Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman SB, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C. Hedrich K, et al. Among authors: pramstaller pp. Ann Neurol. 2004 Jan;55(1):145; author reply 145-6. doi: 10.1002/ana.10816. Ann Neurol. 2004. PMID: 14705128 No abstract available.
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients.
Berg D, Niwar M, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK, Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V, Pramstaller PP, Oertel WH, Bauer P, Krueger R, Gasser T, Riess O. Berg D, et al. Among authors: pramstaller pp. Mov Disord. 2005 Sep;20(9):1191-4. doi: 10.1002/mds.20504. Mov Disord. 2005. PMID: 15895422
Co-occurrence of restless legs syndrome and Parkin mutations in two families.
Adel S, Djarmati A, Kabakci K, Pichler I, Eskelson C, Lohnau T, Kock N, Hagenah J, Hedrich K, Schwinger E, Kramer PL, Pramstaller PP, Klein C. Adel S, et al. Among authors: pramstaller pp. Mov Disord. 2006 Feb;21(2):258-63. doi: 10.1002/mds.20690. Mov Disord. 2006. PMID: 16161156
382 results