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Page 1
Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family.
Kabakci K, Isbruch K, Schilling K, Hedrich K, de Carvalho Aguiar P, Ozelius LJ, Kramer PL, Schwarz MH, Klein C. Kabakci K, et al. Among authors: de carvalho aguiar p. J Neurol Neurosurg Psychiatry. 2005 Jun;76(6):860-2. doi: 10.1136/jnnp.2004.046730. J Neurol Neurosurg Psychiatry. 2005. PMID: 15897512 Free PMC article.
Phenotypic features of myoclonus-dystonia in three kindreds.
Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, De Carvalho Aguiar P, Schilling K, Kramer P, De Leon D, Raymond D, Saunders-Pullman R, Klein C, Bressman SB, Schmand B, Tijssen MA, Ozelius LJ, Silverman JM. Doheny DO, et al. Among authors: de carvalho aguiar p, de leon d. Neurology. 2002 Oct 22;59(8):1187-96. doi: 10.1212/wnl.59.8.1187. Neurology. 2002. PMID: 12391346
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
Klein C, Liu L, Doheny D, Kock N, Müller B, de Carvalho Aguiar P, Leung J, de Leon D, Bressman SB, Silverman J, Smith C, Danisi F, Morrison C, Walker RH, Velickovic M, Schwinger E, Kramer PL, Breakefield XO, Brin MF, Ozelius LJ. Klein C, et al. Among authors: de carvalho aguiar p, de leon d. Ann Neurol. 2002 Nov;52(5):675-9. doi: 10.1002/ana.10358. Ann Neurol. 2002. PMID: 12402271
Hereditary myoclonus-dystonia associated with epilepsy.
Foncke EM, Klein C, Koelman JH, Kramer PL, Schilling K, Müller B, Garrels J, de Carvalho Aguiar P, Liu L, de Froe A, Speelman JD, Ozelius LJ, Tijssen MA. Foncke EM, et al. Among authors: de carvalho aguiar p, de froe a. Neurology. 2003 Jun 24;60(12):1988-90. doi: 10.1212/01.wnl.0000066020.99191.76. Neurology. 2003. PMID: 12821748
Classification and genetics of dystonia.
de Carvalho Aguiar PM, Ozelius LJ. de Carvalho Aguiar PM, et al. Lancet Neurol. 2002 Sep;1(5):316-25. doi: 10.1016/s1474-4422(02)00137-0. Lancet Neurol. 2002. PMID: 12849429 Review.
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: de carvalho aguiar p. 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: de carvalho aguiar p. 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.
38 results