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A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. Staropoli JF, et al. Among authors: romansky sg. Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28. Am J Hum Genet. 2012. PMID: 22748208 Free PMC article.
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.
Mancuso M, Ferraris S, Nishigaki Y, Azan G, Mauro A, Sammarco P, Krishna S, Tay SK, Bonilla E, Romansky SG, Hirano M, DiMauro S. Mancuso M, et al. Among authors: romansky sg. J Neurol Sci. 2005 Jan 15;228(1):93-7. doi: 10.1016/j.jns.2004.10.018. J Neurol Sci. 2005. PMID: 15607216
Chloroquine-induced lipidosis mimicking Fabry disease.
Albay D, Adler SG, Philipose J, Calescibetta CC, Romansky SG, Cohen AH. Albay D, et al. Among authors: romansky sg. Mod Pathol. 2005 May;18(5):733-8. doi: 10.1038/modpathol.3800344. Mod Pathol. 2005. PMID: 15605079 Free article.
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