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Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.
Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA. Bozorg S, et al. Surv Ophthalmol. 2009 Jul-Aug;54(4):463-71. doi: 10.1016/j.survophthal.2009.04.007. Surv Ophthalmol. 2009. PMID: 19539834 Free PMC article. Review.
Nonsense-mediated decay in genetic disease: friend or foe?
Miller JN, Pearce DA. Miller JN, et al. Mutat Res Rev Mutat Res. 2014 Oct-Dec;762:52-64. doi: 10.1016/j.mrrev.2014.05.001. Epub 2014 May 28. Mutat Res Rev Mutat Res. 2014. PMID: 25485595 Free PMC article. Review.