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Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB. Hammer MB, et al. Among authors: liu g. Am J Hum Genet. 2013 Feb 7;92(2):245-51. doi: 10.1016/j.ajhg.2012.12.012. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332917 Free PMC article.
Selective expression of Parkinson's disease-related Leucine-rich repeat kinase 2 G2019S missense mutation in midbrain dopaminergic neurons impairs dopamine release and dopaminergic gene expression.
Liu G, Sgobio C, Gu X, Sun L, Lin X, Yu J, Parisiadou L, Xie C, Sastry N, Ding J, Lohr KM, Miller GW, Mateo Y, Lovinger DM, Cai H. Liu G, et al. Hum Mol Genet. 2015 Sep 15;24(18):5299-312. doi: 10.1093/hmg/ddv249. Epub 2015 Jun 29. Hum Mol Genet. 2015. PMID: 26123485 Free PMC article.
Conditional expression of Parkinson's disease-related mutant α-synuclein in the midbrain dopaminergic neurons causes progressive neurodegeneration and degradation of transcription factor nuclear receptor related 1.
Lin X, Parisiadou L, Sgobio C, Liu G, Yu J, Sun L, Shim H, Gu XL, Luo J, Long CX, Ding J, Mateo Y, Sullivan PH, Wu LG, Goldstein DS, Lovinger D, Cai H. Lin X, et al. Among authors: liu g. J Neurosci. 2012 Jul 4;32(27):9248-64. doi: 10.1523/JNEUROSCI.1731-12.2012. J Neurosci. 2012. PMID: 22764233 Free PMC article.
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