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COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. Inoue M, et al. Among authors: takahashi t. Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2. Ann Neurol. 2019. PMID: 31155743
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Kagami M, et al. Among authors: takahashi t. Nat Genet. 2008 Feb;40(2):237-42. doi: 10.1038/ng.2007.56. Epub 2008 Jan 6. Nat Genet. 2008. PMID: 18176563
In Regard to Udovicich et al.
Takahashi T. Takahashi T. Int J Radiat Oncol Biol Phys. 2025 Feb 1;121(2):570. doi: 10.1016/j.ijrobp.2024.10.025. Int J Radiat Oncol Biol Phys. 2025. PMID: 39824574 No abstract available.
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