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New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.
Uehara N, Mori M, Tokuzawa Y, Mizuno Y, Tamaru S, Kohda M, Moriyama Y, Nakachi Y, Matoba N, Sakai T, Yamazaki T, Harashima H, Murayama K, Hattori K, Hayashi J, Yamagata T, Fujita Y, Ito M, Tanaka M, Nibu K, Ohtake A, Okazaki Y. Uehara N, et al. Among authors: mori m. Ann Clin Transl Neurol. 2014 May;1(5):361-9. doi: 10.1002/acn3.59. Epub 2014 Apr 28. Ann Clin Transl Neurol. 2014. PMID: 25356405 Free PMC article.
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: mori m. Pediatr Int. 2014 Apr;56(2):180-7. doi: 10.1111/ped.12249. Epub 2014 Mar 6. Pediatr Int. 2014. PMID: 24266892
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y. Kohda M, et al. Among authors: mori m. PLoS Genet. 2016 Jan 7;12(1):e1005679. doi: 10.1371/journal.pgen.1005679. eCollection 2016 Jan. PLoS Genet. 2016. PMID: 26741492 Free PMC article.
Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.
Imai A, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, Harashima H, Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y. Imai A, et al. Among authors: mori m. Int J Cardiol. 2016 Mar 15;207:203-5. doi: 10.1016/j.ijcard.2016.01.026. Epub 2016 Jan 7. Int J Cardiol. 2016. PMID: 26803244 No abstract available.
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa E, Shimura M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Mori M, Kohda M, Kishita Y, Okazaki Y, Takahashi S, Ohtake A, Murayama K. Ogawa E, et al. Among authors: mori m. J Inherit Metab Dis. 2017 Sep;40(5):685-693. doi: 10.1007/s10545-017-0042-6. Epub 2017 Apr 20. J Inherit Metab Dis. 2017. PMID: 28429146 Free PMC article.
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: mori m. 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
9,977 results