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A mutation in SCARB2 is a modifier in Gaucher disease.
Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. Velayati A, et al. Among authors: westbroek w. Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15. Hum Mutat. 2011. PMID: 21796727 Free PMC article.
Glucocerebrosidase is shaking up the synucleinopathies.
Siebert M, Sidransky E, Westbroek W. Siebert M, et al. Among authors: westbroek w. Brain. 2014 May;137(Pt 5):1304-22. doi: 10.1093/brain/awu002. Epub 2014 Feb 14. Brain. 2014. PMID: 24531622 Free PMC article. Review.
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