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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.
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.
Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.
Müller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein C. Müller B, et al. Among authors: pramstaller pp. Am J Hum Genet. 2002 Dec;71(6):1303-11. doi: 10.1086/344531. Epub 2002 Nov 20. Am J Hum Genet. 2002. PMID: 12444570 Free PMC article.
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.
390 results