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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: kostic v. 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.
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: kostic v. Ann Neurol. 2004 Jan;55(1):145; author reply 145-6. doi: 10.1002/ana.10816. Ann Neurol. 2004. PMID: 14705128 No abstract available.
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: kostic v. Neurology. 2004 Feb 10;62(3):395-400. doi: 10.1212/01.wnl.0000113024.84178.f7. Neurology. 2004. PMID: 14872019
Genetic heterogeneity in ten families with myoclonus-dystonia.
Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, De Carvalho Aguiar P, Liu L, Kabakci K, Garrels J, Meyer EM, Berisavac I, Schwinger E, Kramer PL, Ozelius LJ, Klein C, Kostic V. Schüle B, et al. Among authors: kostic v. J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1181-5. doi: 10.1136/jnnp.2003.027177. J Neurol Neurosurg Psychiatry. 2004. PMID: 15258227 Free PMC article.
482 results