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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: naviaux rk. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
Polymerase gamma disease through the ages.
Saneto RP, Naviaux RK. Saneto RP, et al. Among authors: naviaux rk. Dev Disabil Res Rev. 2010;16(2):163-74. doi: 10.1002/ddrr.105. Dev Disabil Res Rev. 2010. PMID: 20818731 Review.
Alpers-Huttenlocher syndrome.
Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Saneto RP, et al. Among authors: naviaux rk. 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.
Molecular diagnosis of Alpers syndrome.
Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK. Nguyen KV, et al. Among authors: naviaux rk. 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
The in-depth evaluation of suspected mitochondrial disease.
Mitochondrial Medicine Society's Committee on Diagnosis; Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK. Mitochondrial Medicine Society's Committee on Diagnosis, et al. Among authors: naviaux rk. Mol Genet Metab. 2008 May;94(1):16-37. doi: 10.1016/j.ymgme.2007.11.018. Epub 2008 Feb 1. Mol Genet Metab. 2008. PMID: 18243024 Free PMC article. Review.
119 results