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2014 1
2021 3
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2023 4
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Page 1
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-Okazaki A, Wu Y, Osaka H, Ohtake A, Murayama K, Okazaki Y. Kishita Y, et al. Among authors: onuki t. J Med Genet. 2023 Oct;60(10):1006-1015. doi: 10.1136/jmg-2022-109027. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055166
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Ittiwut C, Ittiwut R, Kuptanon C, Matsuhashi T, Shimura M, Sugiyama Y, Onuki T, Ohtake A, Murayama K, Vatanavicharn N, Dejputtawat W, Tantisirivit N, Kor-Anantakul P, Kamolvisit W, Suphapeetiporn K, Shotelersuk V. Ittiwut C, et al. Among authors: onuki t. Sci Rep. 2023 Dec 12;13(1):22005. doi: 10.1038/s41598-023-49161-7. Sci Rep. 2023. PMID: 38086984 Free PMC article.
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K. Shimura M, et al. Among authors: onuki t. Mitochondrion. 2022 Mar;63:1-8. doi: 10.1016/j.mito.2021.12.005. Epub 2021 Dec 18. Mitochondrion. 2022. PMID: 34933128 Free article.
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Watanabe C, Osaka H, Watanabe M, Miyauchi A, Jimbo EF, Tokuyama T, Uosaki H, Kishita Y, Okazaki Y, Onuki T, Ebihara T, Aizawa K, Murayama K, Ohtake A, Yamagata T. Watanabe C, et al. Among authors: onuki t. Mol Genet Metab Rep. 2023 Jan 3;34:100951. doi: 10.1016/j.ymgmr.2022.100951. eCollection 2023 Mar. Mol Genet Metab Rep. 2023. PMID: 36632326 Free PMC article.
Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease.
Narita A, Shirai K, Kubota N, Takayama R, Takahashi Y, Onuki T, Numakura C, Kato M, Hamada Y, Sakai N, Ohno A, Asami M, Matsushita S, Hayashi A, Kumada T, Fujii T, Horino A, Inoue T, Kuki I, Asakawa K, Ishikawa H, Ohno K, Nishimura Y, Tamasaki A, Maegaki Y, Ohno K. Narita A, et al. Among authors: onuki t. Ann Clin Transl Neurol. 2014 Feb;1(2):135-40. doi: 10.1002/acn3.33. Epub 2014 Feb 4. Ann Clin Transl Neurol. 2014. PMID: 25356393 Free PMC article.