Copeland WC - Search Results

1

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Among authors: copeland wc. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.

2

De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

Chan SS, Naviaux RK, Basinger AA, Casas KA, Copeland WC. Chan SS, et al. Among authors: copeland wc. Mitochondrion. 2009 Sep;9(5):340-5. doi: 10.1016/j.mito.2009.05.002. Epub 2009 Jun 6. Mitochondrion. 2009. PMID: 19501198 Free PMC article.

3

Clinical and molecular features of POLG-related mitochondrial disease.

Stumpf JD, Saneto RP, Copeland WC. Stumpf JD, et al. Among authors: copeland wc. Cold Spring Harb Perspect Biol. 2013 Apr 1;5(4):a011395. doi: 10.1101/cshperspect.a011395. Cold Spring Harb Perspect Biol. 2013. PMID: 23545419 Free PMC article. Review.

4

Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

Chan SS, Longley MJ, Naviaux RK, Copeland WC. Chan SS, et al. Among authors: copeland wc. DNA Repair (Amst). 2005 Dec 8;4(12):1381-9. doi: 10.1016/j.dnarep.2005.08.010. Epub 2005 Sep 21. DNA Repair (Amst). 2005. PMID: 16181814

5

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

6

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.

7

Mitochondrial disease: clinical aspects, molecular mechanisms, translational science, and clinical frontiers.

Thornton B, Cohen B, Copeland W, Maria BL. Thornton B, et al. J Child Neurol. 2014 Sep;29(9):1179-207. doi: 10.1177/0883073814537379. Epub 2014 Jun 9. J Child Neurol. 2014. PMID: 24916430 Free PMC article.

8

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.

Stumpf JD, Copeland WC. Stumpf JD, et al. Among authors: copeland wc. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi: 10.1007/s00018-010-0530-4. Epub 2010 Oct 8. Cell Mol Life Sci. 2011. PMID: 20927567 Free PMC article. Review.

9

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

Stuart GR, Santos JH, Strand MK, Van Houten B, Copeland WC. Stuart GR, et al. Among authors: copeland wc. Hum Mol Genet. 2006 Jan 15;15(2):363-74. doi: 10.1093/hmg/ddi454. Epub 2005 Dec 20. Hum Mol Genet. 2006. PMID: 16368709

10

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.

Stumpf JD, Bailey CM, Spell D, Stillwagon M, Anderson KS, Copeland WC. Stumpf JD, et al. Among authors: copeland wc. Hum Mol Genet. 2010 Jun 1;19(11):2123-33. doi: 10.1093/hmg/ddq089. Epub 2010 Feb 25. Hum Mol Genet. 2010. PMID: 20185557 Free PMC article.

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