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Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation.
Bras JM, Guerreiro RJ, Teo JTH, Darwent L, Vaughan J, Molloy S, Hardy J, Schneider SA. Bras JM, et al. Among authors: schneider sa. Mov Disord Clin Pract. 2014 Apr 10;1(1):45-49. doi: 10.1002/mdc3.12008. eCollection 2014 Apr. Mov Disord Clin Pract. 2014. PMID: 30363821 Free PMC article.
Characterization of PLA2G6 as a locus for dystonia-parkinsonism.
Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Paisan-Ruiz C, et al. Among authors: schneider sa. Ann Neurol. 2009 Jan;65(1):19-23. doi: 10.1002/ana.21415. Ann Neurol. 2009. PMID: 18570303 Free PMC article.
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. Houlden H, et al. Among authors: schneider sa. Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d. Neurology. 2010. PMID: 20211909 Free PMC article.
212 results