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

Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients.

by Koichi Hagiwara, Hiroyuki Morino, Jun Shiihara, Tomoaki Tanaka, Hitoshi Miyazawa, Tomoko Suzuki, Masakazu Kohda, Yasushi Okazaki, Kuniaki Seyama, Hideshi Kawakami
Published 2011-01-01

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

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

A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA.

by Takuya Awata, Hisakuni Yamashita, Susumu Kurihara, Tomoko Morita-Ohkubo, Yumi Miyashita, Shigehiro Katayama, Keisuke Mori, Shin Yoneya, Masakazu Kohda, Yasushi Okazaki, Taro Maruyama, Akira Shimada, Kazuki Yasuda, Nao Nishida, Katsushi Tokunaga, Asako Koike
Published 2014-01-01

Correction: A Genome-Wide Association Study for Diabetic Retinopathy in a Japanese Population: Potential Association with a Long Intergenic Non-Coding RNA.

by Takuya Awata, Hisakuni Yamashita, Susumu Kurihara, Tomoko Morita-Ohkubo, Yumi Miyashita, Shigehiro Katayama, Keisuke Mori, Shin Yoneya, Masakazu Kohda, Yasushi Okazaki, Taro Maruyama, Akira Shimada, Kazuki Yasuda, Nao Nishida, Katsushi Tokunaga, Asako Koike
Published 2015-01-01

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

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