1. A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome. Issue 10 (4th August 2020) Authors: Kishita, Yoshihito; Shimura, Masaru; Kohda, Masakazu; Akita, Masumi; Imai‐Okazaki, Atsuko; Yatsuka, Yukiko; Nakajima, Yoko; Ito, Tetsuya; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 10(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by MT-TL1 mutation: A case report. Issue 4 (April 2023) Authors: Imasawa, Toshiyuki; Kitamura, Hiroshi; Kawaguchi, Takehiko; Yatsuka, Yukiko; Okazaki, Yasushi; Murayama, Kei Journal: Heliyon Issue: Volume 9:Issue 4(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy. (15th October 2016) Authors: Imai, Atsuko; Kishita, Yoshihito; Nakayama, Yuko; Fujita, Shuhei; Futatani, Takeshi; Kohda, Masakazu; Yatsuka, Yukiko; Nakaya, Akihiro; Sakata, Yasushi; Murayama, Kei; Ohtake, Akira; Okazaki, Yasushi Journal: International journal of cardiology Issue: Volume 221(2016) Page Start: 446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease. Issue 6 (1st September 2022) Authors: Imai‐Okazaki, Atsuko; Nitta, Kazuhiro R.; Yatsuka, Yukiko; Sugiura, Ayumu; Arao, Masato; Shimura, Masaru; Ebihara, Tomohiro; Onuki, Takanori; Ichimoto, Keiko; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 6(2022) Page Start: 1143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
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) ↗
9. Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome. Issue 8 (August 2021) Authors: Kinoshita, Shintaro; Ando, Miki; Ando, Jun; Ishii, Midori; Furukawa, Yoshiki; Tomita, Osamu; Azusawa, Yoko; Shirane, Shuichi; Kishita, Yoshihito; Yatsuka, Yukiko; Eguchi, Hidetaka; Okazaki, Yasushi; Komatsu, Norio Journal: Heliyon Issue: Volume 7:Issue 8(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗