Leigh Syndrome Due to <i>NDUFV1</i> Mutations Initially Presenting as LBSL

by Nurun Nahar Borna, Yoshihito Kishita, Norio Sakai, Yusuke Hamada, Koji Kamagata, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Published 2020-11-01

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome

by Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Takuya Fushimi, Masaru Shimura, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Published 2021-05-01

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

by Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Published 2020-10-01

A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes

by Yujiro Maeoka, Toshiki Doi, Masaho Aizawa, Kisho Miyasako, Shuma Hirashio, Yukinari Masuda, Yoshihito Kishita, Yasushi Okazaki, Kei Murayama, Toshiyuki Imasawa, Shigeo Hara, Takao Masaki
Published 2020-08-01

Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome

by Shintaro Kinoshita, Miki Ando, Jun Ando, Midori Ishii, Yoshiki Furukawa, Osamu Tomita, Yoko Azusawa, Shuichi Shirane, Yoshihito Kishita, Yukiko Yatsuka, Hidetaka Eguchi, Yasushi Okazaki, Norio Komatsu
Published 2021-08-01

Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction i...

by Keiichi Hirono, Fukiko Ichida, Natsuhito Nishio, Minako Ogawa‐Tominaga, Takuya Fushimi, Rene′ G. Feichtinger, Johannes A. Mayr, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Akira Ohtake, Kei Murayama
Published 2019-03-01

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

by Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
Published 2021-02-01

Valine metabolites analysis in ECHS1 deficiency

by Mari Kuwajima, Karin Kojima, Hitoshi Osaka, Yusuke Hamada, Eriko Jimbo, Miyuki Watanabe, Shiho Aoki, Ikuko Sato-Shirai, Keiko Ichimoto, Takuya Fushimi, Kei Murayama, Akira Ohtake, Masakazu Kohda, Yoshihito Kishita, Yukiko Yatsuka, Shumpei Uchino, Masakazu Mimaki, Noriko Miyake, Naomichi Matsumoto, Yasushi Okazaki, Tomomi Ogata, Takanori Yamagata, Kazuhiro Muramatsu
Published 2021-12-01

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

by Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito, Akinari Fukuda, Jun Murakami, Shunsaku Kaji, Mureo Kasahara, Kazuo Shiraki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Published 2020-07-01

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

by Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi, Hidemasa Kato, Akihiko Okuda, Shunsuke Tamaru, Nurun Nahar Borna, Kengo Banshoya, Toshiro Aigaki, Yukiko Sato-Miyata, Kohei Ohnuma, Tsutomu Suzuki, Asuteka Nagao, Hazuki Maehata, Fumihiko Matsuda, Koichiro Higasa, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto, Takuya Fushimi, Masaru Shimura, Keiko Kaiho-Ichimoto, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Published 2016-01-01