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2003 1
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2014 2
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15 results

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Page 1
Barth Syndrome: Different Approaches to Diagnosis.
Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y. Imai-Okazaki A, et al. Among authors: harashima h. J Pediatr. 2018 Feb;193:256-260. doi: 10.1016/j.jpeds.2017.09.075. Epub 2017 Dec 15. J Pediatr. 2018. PMID: 29249525
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Akiyama N, et al. Among authors: harashima h. Sci Rep. 2021 Feb 11;11(1):3531. doi: 10.1038/s41598-021-81015-y. Sci Rep. 2021. PMID: 33574353 Free PMC article.
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.
Imai-Okazaki A, Kishita Y, Kohda M, Mizuno Y, Fushimi T, Matsunaga A, Yatsuka Y, Hirata T, Harashima H, Takeda A, Nakaya A, Sakata Y, Kogaki S, Ohtake A, Murayama K, Okazaki Y. Imai-Okazaki A, et al. Among authors: harashima h. Int J Cardiol. 2019 Mar 15;279:115-121. doi: 10.1016/j.ijcard.2019.01.017. Epub 2019 Jan 5. Int J Cardiol. 2019. PMID: 30642647
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Ogawa-Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Imai-Okazaki A, et al. Among authors: harashima h. Int J Cardiol. 2021 Oct 15;341:48-55. doi: 10.1016/j.ijcard.2021.06.042. Epub 2021 Jul 21. Int J Cardiol. 2021. PMID: 34298071 Free article.
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Akiyama N, et al. Among authors: harashima h. Sci Rep. 2021 Nov 16;11(1):22682. doi: 10.1038/s41598-021-02108-2. Sci Rep. 2021. PMID: 34785734 Free PMC article. No abstract available.
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
Suzuki-Ajihara S, Saito-Tsuruoka M, Harashima H, Arai K, Koide H, Yatsuka Y, Imai-Okazaki A, Okazaki Y, Murayama K, Numakura C, Akioka Y, Ohtake A. Suzuki-Ajihara S, et al. Among authors: harashima h. Mol Genet Metab Rep. 2023 Mar 17;35:100966. doi: 10.1016/j.ymgmr.2023.100966. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 36967720 Free PMC article.
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: harashima h. 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.
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: harashima h. 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.
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: harashima h. 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
15 results