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Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH. Korvatska O, et al. Among authors: greenup jl. Hum Mol Genet. 2013 Aug 15;22(16):3259-68. doi: 10.1093/hmg/ddt180. Epub 2013 Apr 16. Hum Mol Genet. 2013. PMID: 23595882 Free PMC article.
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.
Poorkaj P, Raskind WH, Leverenz JB, Matsushita M, Zabetian CP, Samii A, Kim S, Gazi N, Nutt JG, Wolff J, Yearout D, Greenup JL, Steinbart EJ, Bird TD. Poorkaj P, et al. Among authors: greenup jl. Mov Disord. 2010 Jul 30;25(10):1409-17. doi: 10.1002/mds.23085. Mov Disord. 2010. PMID: 20629132 Free PMC article.