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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: elbalalesy n. 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.
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
Stiles AR, Venturoni L, Mucci G, Elbalalesy N, Woontner M, Goodman S, Abdenur JE. Stiles AR, et al. Among authors: elbalalesy n. JIMD Rep. 2016;25:15-19. doi: 10.1007/8904_2015_462. Epub 2015 Jul 5. JIMD Rep. 2016. PMID: 26141459 Free PMC article.