1. Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. (15th March 2019) Authors: Imai-Okazaki, Atsuko; Kishita, Yoshihito; Kohda, Masakazu; Mizuno, Yosuke; Fushimi, Takuya; Matsunaga, Ayako; Yatsuka, Yukiko; Hirata, Tomoko; Harashima, Hiroko; Takeda, Atsuhito; Nakaya, Akihiro; Sakata, Yasushi; Kogaki, Shigetoyo; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi Journal: International journal of cardiology Issue: Volume 279(2019) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. Issue 5 (20th April 2017) Authors: Ogawa, Erika; Shimura, Masaru; Fushimi, Takuya; Tajika, Makiko; Ichimoto, Keiko; Matsunaga, Ayako; Tsuruoka, Tomoko; Ishige, Mika; Fuchigami, Tatsuo; Yamazaki, Taro; Mori, Masato; Kohda, Masakazu; Kishita, Yoshihito; Okazaki, Yasushi; Takahashi, Shori; Ohtake, Akira; Murayama, Kei Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 5(2017) Page Start: 685 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2. Issue 11 (2nd September 2021) Authors: Kishita, Yoshihito; Shimura, Masaru; Kohda, Masakazu; Fushimi, Takuya; Nitta, Kazuhiro R.; Yatsuka, Yukiko; Hirose, Shinichi; Ideguchi, Hiroshi; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi Journal: Human mutation Issue: Volume 42:Issue 11(2021) Page Start: 1422 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. (15th October 2021) Authors: Imai-Okazaki, Atsuko; Matsunaga, Ayako; Yatsuka, Yukiko; Nitta, Kazuhiro R.; Kishita, Yoshihito; Sugiura, Ayumu; Sugiyama, Yohei; Fushimi, Takuya; Shimura, Masaru; Ichimoto, Keiko; Tajika, Makiko; Ogawa-Tominaga, Minako; Ebihara, Tomohiro; Matsuhashi, Tetsuro; Tsuruoka, Tomoko; Kohda, Masakazu; H... Journal: International journal of cardiology Issue: Volume 341(2021) Page Start: 48 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Macroscopic Characteristics of the Native Liver in Children With MPV17‐Related Mitochondrial DNA Depletion Syndrome: An Indication for Performing Liver Transplantation?. Issue 3 (12th October 2021) Authors: Kasahara, Mureo; Sakamoto, Seisuke; Fukuda, Akinari; Horikawa, Reiko; Ito, Reiko; Uchida, Hajime; Yanagi, Yusuke; Shimizu, Seiichi; Nakao, Toshimasa; Mimori, Kotaro; Haga, Chizuko; Schlegel, Andrea; Ohtake, Akira; Shimura, Masaru; Fushimi, Takuya; Ichimoto, Keiko; Matsunaga, Ayako; Murayama, Kei Journal: Liver transplantation Issue: Volume 28:Issue 3(2022) Page Start: 497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report. Issue 3 (7th February 2019) Authors: Hirono, Keiichi; Ichida, Fukiko; Nishio, Natsuhito; Ogawa‐Tominaga, Minako; Fushimi, Takuya; Feichtinger, Rene′ G.; Mayr, Johannes A.; Kohda, Masakazu; Kishita, Yoshihito; Okazaki, Yasushi; Ohtake, Akira; Murayama, Kei Journal: Clinical case reports Issue: Volume 7:Issue 3(2019) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis. Issue 4 (10th February 2020) Authors: Ogawa, Erika; Fushimi, Takuya; Ogawa‐Tominaga, Minako; Shimura, Masaru; Tajika, Makiko; Ichimoto, Keiko; Matsunaga, Ayako; Tsuruoka, Tomoko; Ishige, Mika; Fuchigami, Tatsuo; Yamazaki, Taro; Kishita, Yoshihito; Kohda, Masakazu; Imai‐Okazaki, Atsuko; Okazaki, Yasushi; Morioka, Ichiro; Ohtake, Akira... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 4(2020) Page Start: 819 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis. Issue 3 (7th October 2021) Authors: Ebihara, Tomohiro; Nagatomo, Taro; Sugiyama, Yohei; Tsuruoka, Tomoko; Osone, Yoshiteru; Shimura, Masaru; Tajika, Makiko; Matsuhashi, Tetsuro; Ichimoto, Keiko; Matsunaga, Ayako; Akiyama, Nana; Ogawa-Tominaga, Minako; Yatsuka, Yukiko; Nitta, Kazuhiro R; Kishita, Yoshihito; Fushimi, Takuya; Imai-Oka... Journal: Archives of disease in childhood Issue: Volume 107:Issue 3(2022) Page Start: 329 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗