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A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S. Kurt B, et al. Among authors: copeland wc. Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332. Arch Neurol. 2010. PMID: 20142534 Free PMC article.
A novel POLG gene mutation in a patient with SANDO.
Kurt B, Naini AB, Copeland WC, Lu J, Dimauro S, Hirano M. Kurt B, et al. Among authors: copeland wc. J Exp Integr Med. 2012;2(2):10.5455/jeim.200312.cr.001. doi: 10.5455/jeim.200312.cr.001. J Exp Integr Med. 2012. PMID: 24265579 Free PMC article.
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
Varma H, Faust PL, Iglesias AD, Lagana SM, Wou K, Hirano M, DiMauro S, Mansukani MM, Hoff KE, Nagy PL, Copeland WC, Naini AB. Varma H, et al. Among authors: copeland wc. Eur J Med Genet. 2016 Oct;59(10):540-5. doi: 10.1016/j.ejmg.2016.08.012. Epub 2016 Aug 31. Eur J Med Genet. 2016. PMID: 27592148 Free PMC article.
Molecular diagnosis of Alpers syndrome.
Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK. Nguyen KV, et al. Among authors: copeland wc. J Hepatol. 2006 Jul;45(1):108-16. doi: 10.1016/j.jhep.2005.12.026. Epub 2006 Feb 20. J Hepatol. 2006. PMID: 16545482
Alpers-Huttenlocher syndrome.
Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Saneto RP, et al. Among authors: copeland wc. Pediatr Neurol. 2013 Mar;48(3):167-78. doi: 10.1016/j.pediatrneurol.2012.09.014. Pediatr Neurol. 2013. PMID: 23419467 Free PMC article. Review.
157 results