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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: ohtake a. 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
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
Kaji S, Murayama K, Nagata I, Nagasaka H, Takayanagi M, Ohtake A, Iwasa H, Nishiyama M, Okazaki Y, Harashima H, Eitoku T, Yamamoto M, Matsushita H, Kitamoto K, Sakata S, Katayama T, Sugimoto S, Fujimoto Y, Murakami J, Kanzaki S, Shiraki K. Kaji S, et al. Among authors: ohtake a. Mol Genet Metab. 2009 Aug;97(4):292-6. doi: 10.1016/j.ymgme.2009.04.014. Epub 2009 May 12. Mol Genet Metab. 2009. PMID: 19520594
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.
Tanigawa J, Kaneko K, Honda M, Harashima H, Murayama K, Wada T, Takano K, Iai M, Yamashita S, Shimbo H, Aida N, Ohtake A, Osaka H. Tanigawa J, et al. Among authors: ohtake a. Brain Dev. 2012 Nov;34(10):861-5. doi: 10.1016/j.braindev.2012.02.007. Epub 2012 Mar 10. Brain Dev. 2012. PMID: 22410471
Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.
Kondo H, Tanda K, Tabata C, Hayashi K, Kihara M, Kizaki Z, Taniguchi-Ikeda M, Mori M, Murayama K, Ohtake A. Kondo H, et al. Among authors: ohtake a. Brain Dev. 2014 Sep;36(8):730-3. doi: 10.1016/j.braindev.2013.09.005. Epub 2013 Oct 7. Brain Dev. 2014. PMID: 24113355
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.
Yamazaki T, Murayama K, Compton AG, Sugiana C, Harashima H, Amemiya S, Ajima M, Tsuruoka T, Fujinami A, Kawachi E, Kurashige Y, Matsushita K, Wakiguchi H, Mori M, Iwasa H, Okazaki Y, Thorburn DR, Ohtake A. Yamazaki T, et al. Among authors: ohtake a. Pediatr Int. 2014 Apr;56(2):180-7. doi: 10.1111/ped.12249. Epub 2014 Mar 6. Pediatr Int. 2014. PMID: 24266892
276 results