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Mitochondrial diseases.
Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Gorman GS, et al. Among authors: koga y. Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Nat Rev Dis Primers. 2016. PMID: 27775730 Review.
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: koga y. 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.
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.
Mancuso M, McFarland R, Klopstock T, Hirano M; consortium on Trial Readiness in Mitochondrial Myopathies. Mancuso M, et al. Neuromuscul Disord. 2017 Dec;27(12):1126-1137. doi: 10.1016/j.nmd.2017.08.006. Epub 2017 Sep 8. Neuromuscul Disord. 2017. PMID: 29074296 Free PMC article. No abstract available.
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
Karaa A, MacMullen LE, Campbell JC, Christodoulou J, Cohen BH, Klopstock T, Koga Y, Lamperti C, van Maanen R, McFarland R, Parikh S, Rahman S, Scaglia F, Sherman AV, Yeske P, Falk MJ. Karaa A, et al. Among authors: koga y. Adv Genet (Hoboken). 2022 Mar;3(1):2100047. doi: 10.1002/ggn2.202100047. Epub 2021 Dec 19. Adv Genet (Hoboken). 2022. PMID: 35317023 Free PMC article.
1,881 results