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LRRK2: cause, risk, and mechanism.
Paisán-Ruiz C, Lewis PA, Singleton AB. Paisán-Ruiz C, et al. J Parkinsons Dis. 2013;3(2):85-103. doi: 10.3233/JPD-130192. J Parkinsons Dis. 2013. PMID: 23938341 Free PMC article. Review.
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H. Sumner CJ, et al. Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207122 Free PMC article.