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The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Duran R, Mencacci NE, Angeli AV, Shoai M, Deas E, Houlden H, Mehta A, Hughes D, Cox TM, Deegan P, Schapira AH, Lees AJ, Limousin P, Jarman PR, Bhatia KP, Wood NW, Hardy J, Foltynie T. Duran R, et al. Among authors: mehta a. Mov Disord. 2013 Feb;28(2):232-236. doi: 10.1002/mds.25248. Epub 2012 Dec 5. Mov Disord. 2013. PMID: 23225227 Free PMC article.
Evolution and clustering of prodromal parkinsonian features in GBA1 carriers.
Mullin S, Beavan M, Bestwick J, McNeill A, Proukakis C, Cox T, Hughes D, Mehta A, Zetterberg H, Schapira AHV. Mullin S, et al. Among authors: mehta a. Mov Disord. 2019 Sep;34(9):1365-1373. doi: 10.1002/mds.27775. Epub 2019 Jun 28. Mov Disord. 2019. PMID: 31251436 Free PMC article.
Novel pathogenic mutations in the glucocerebrosidase locus.
Duran R, McNeill A, Mehta A, Hughes D, Cox T, Deegan P, Schapira AH, Hardy J. Duran R, et al. Among authors: mehta a. Mol Genet Metab. 2012 Aug;106(4):495-7. doi: 10.1016/j.ymgme.2012.05.006. Epub 2012 May 18. Mol Genet Metab. 2012. PMID: 22658918 Free PMC article.
Neurological effects of glucocerebrosidase gene mutations.
Mullin S, Hughes D, Mehta A, Schapira AHV. Mullin S, et al. Among authors: mehta a. Eur J Neurol. 2019 Mar;26(3):388-e29. doi: 10.1111/ene.13837. Epub 2018 Dec 13. Eur J Neurol. 2019. PMID: 30315684 Free PMC article. Review.
5,913 results