A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

by Shimbo, Hiroko, Takagi, Mariko, Okuda, Mitsuko, Tsuyusaki, Yu, Takano, Kyoko, Iai, Mizue, Yamashita, Sumimasa, Murayama, Kei, Ohtake, Akira, Goto, Yu-ichi, Aida, Noriko, Osaka, Hitoshi
Published 2014

New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders

by Uehara, Natsumi, Mori, Masato, Tokuzawa, Yoshimi, Mizuno, Yosuke, Tamaru, Shunsuke, Kohda, Masakazu, Moriyama, Yohsuke, Nakachi, Yutaka, Matoba, Nana, Sakai, Tetsuro, Yamazaki, Taro, Harashima, Hiroko, Murayama, Kei, Hattori, Keisuke, Hayashi, Jun-Ichi, Yamagata, Takanori, Fujita, Yasunori, Ito, Masafumi, Tanaka, Masashi, Nibu, Ken-ichi, Ohtake, Akira, Okazaki, Yasushi
Published 2014

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

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

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

by Haack, Tobias B, Jackson, Christopher B, Murayama, Kei, Kremer, Laura S, Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C, Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M, Alston, Charlotte L, Taylor, Robert W, Rodenburg, Richard J, Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M, Hoffmann, Georg F, Mayr, Johannes A, Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean-Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas
Published 2015