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Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S. Bornstein B, et al. Among authors: coku j. Neuromuscul Disord. 2008 Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504129 Free PMC article.
Mitochondrial myopathy associated with a novel mutation in mtDNA.
Pancrudo J, Shanske S, Coku J, Lu J, Mardach R, Akman O, Krishna S, Bonilla E, DiMauro S. Pancrudo J, et al. Among authors: coku j. Neuromuscul Disord. 2007 Aug;17(8):651-4. doi: 10.1016/j.nmd.2007.04.005. Epub 2007 Jun 27. Neuromuscul Disord. 2007. PMID: 17588757 Free PMC article.
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Horvath R, et al. Among authors: coku j. Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31. Brain. 2009. PMID: 19720722 Free PMC article.
Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.
Nishigaki Y, Ueno H, Coku J, Koga Y, Fujii T, Sahashi K, Nakano K, Yoneda M, Nonaka M, Tang L, Liou CW, Paquis-Flucklinger V, Harigaya Y, Ibi T, Goto Y, Hosoya H, DiMauro S, Hirano M, Tanaka M. Nishigaki Y, et al. Among authors: coku j. Mitochondrion. 2010 Apr;10(3):300-8. doi: 10.1016/j.mito.2010.01.003. Epub 2010 Jan 11. Mitochondrion. 2010. PMID: 20064630 Free PMC article.
17 results