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A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H. Salpietro V, et al. Among authors: kelly mp. Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2. Mov Disord. 2018. PMID: 29392776 Free PMC article.
PDE11A negatively regulates lithium responsivity.
Pathak G, Agostino MJ, Bishara K, Capell WR, Fisher JL, Hegde S, Ibrahim BA, Pilarzyk K, Sabin C, Tuczkewycz T, Wilson S, Kelly MP. Pathak G, et al. Among authors: kelly mp. Mol Psychiatry. 2017 Dec;22(12):1714-1724. doi: 10.1038/mp.2016.155. Epub 2016 Sep 20. Mol Psychiatry. 2017. PMID: 27646265 Free PMC article.
639 results