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Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
Hedrich K, Meyer EM, Schüle B, Kock N, de Carvalho Aguiar P, Wiegers K, Koelman JH, Garrels J, Dürr R, Liu L, Schwinger E, Ozelius LJ, Landwehrmeyer B, Stoessl AJ, Tijssen MA, Klein C. Hedrich K, et al. Among authors: klein c. Neurology. 2004 Apr 13;62(7):1229-31. doi: 10.1212/01.wnl.0000118286.75059.35. Neurology. 2004. PMID: 15079037 No abstract available.
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: klein c. 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.
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: klein c. 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. Among authors: klein c. 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. Among authors: klein c. Hum Mutat. 2008 Feb;29(2):331-2. doi: 10.1002/humu.9521. Hum Mutat. 2008. PMID: 18205193
3,895 results