Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL

por Borna, Nurun Nahar, Kishita, Yoshihito, Sakai, Norio, Hamada, Yusuke, Kamagata, Koji, Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Publicado 2020

Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report

por Naganuma, Tsukasa, Imasawa, Toshiyuki, Nukui, Ikuo, Wakasugi, Masakiyo, Kitamura, Hiroshi, Yatsuka, Yukiko, Kishita, Yoshihito, Okazaki, Yasushi, Murayama, Kei, Jinguji, Yoshimi
Publicado 2023

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

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

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

por Kishita, Yoshihito, Shimura, Masaru, Kohda, Masakazu, Akita, Masumi, Imai‐Okazaki, Atsuko, Yatsuka, Yukiko, Nakajima, Yoko, Ito, Tetsuya, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Publicado 2020

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

por Maeoka, Yujiro, Doi, Toshiki, Aizawa, Masaho, Miyasako, Kisho, Hirashio, Shuma, Masuda, Yukinari, Kishita, Yoshihito, Okazaki, Yasushi, Murayama, Kei, Imasawa, Toshiyuki, Hara, Shigeo, Masaki, Takao
Publicado 2020

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

por 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
Publicado 2021

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

por 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
Publicado 2019

Total and reduced/oxidized forms of coenzyme Q(10) in fibroblasts of patients with mitochondrial disease

por Watanabe, Chika, Osaka, Hitoshi, Watanabe, Miyuki, Miyauchi, Akihiko, Jimbo, Eriko F., Tokuyama, Takeshi, Uosaki, Hideki, Kishita, Yoshihito, Okazaki, Yasushi, Onuki, Takanori, Ebihara, Tomohiro, Aizawa, Kenichi, Murayama, Kei, Ohtake, Akira, Yamagata, Takanori
Publicado 2023

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

por Shimura, Masaru, Nozawa, Naoko, Ogawa-Tominaga, Minako, Fushimi, Takuya, Tajika, Makiko, Ichimoto, Keiko, Matsunaga, Ayako, Tsuruoka, Tomoko, Kishita, Yoshihito, Ishii, Takuya, Takahashi, Kiwamu, Tanaka, Tohru, Nakajima, Motowo, Okazaki, Yasushi, Ohtake, Akira, Murayama, Kei
Publicado 2019

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

por 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
Publicado 2017

Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease

por Asano, Kana, Suzuki, Takeo, Saito, Ayaka, Wei, Fan-Yan, Ikeuchi, Yoshiho, Numata, Tomoyuki, Tanaka, Ryou, Yamane, Yoshihisa, Yamamoto, Takeshi, Goto, Takanobu, Kishita, Yoshihito, Murayama, Kei, Ohtake, Akira, Okazaki, Yasushi, Tomizawa, Kazuhito, Sakaguchi, Yuriko, Suzuki, Tsutomu
Publicado 2018

A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing

por Yao, Yue, Nishimura, Motoi, Murayama, Kei, Kuranobu, Naomi, Tojo, Satomi, Beppu, Minako, Ishige, Takayuki, Itoga, Sakae, Tsuchida, Sachio, Mori, Masato, Takayanagi, Masaki, Yokoyama, Masataka, Yamagata, Kazuyuki, Kishita, Yoshihito, Okazaki, Yasushi, Nomura, Fumio, Matsushita, Kazuyuki, Tanaka, Tomoaki
Publicado 2019

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

por 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, Murayama, Kei
Publicado 2020

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

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

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

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

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

por Ebihara, Tomohiro, Nagatomo, Taro, Sugiyama, Yohei, Tsuruoka, Tomoko, Osone, Yoshiteru, Shimura, Masaru, Tajika, Makiko, Ichimoto, Keiko, Naruke, Yuki, Akiyama, Nana, Lim, Sze Chern, Yatsuka, Yukiko, Nitta, Kazuhiro R., Kishita, Yoshihito, Fushimi, Takuya, Okazaki, Atsuko, Ohtake, Akira, Okazaki, Yasushi, Murayama, Kei
Publicado 2022

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

por 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-Okazaki, Atsuko, Ohtake, Akira, Okazaki, Yasushi, Murayama, Kei
Publicado 2022

Valine metabolites analysis in ECHS1 deficiency

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

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

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

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

por Kishita, Yoshihito, Pajak, Aleksandra, Bolar, Nikhita Ajit, Marobbio, Carlo M.T., Maffezzini, Camilla, Miniero, Daniela V., Monné, Magnus, Kohda, Masakazu, Stranneheim, Henrik, Murayama, Kei, Naess, Karin, Lesko, Nicole, Bruhn, Helene, Mourier, Arnaud, Wibom, Rolf, Nennesmo, Inger, Jespers, Ann, Govaert, Paul, Ohtake, Akira, Van Laer, Lut, Loeys, Bart L., Freyer, Christoph, Palmieri, Ferdinando, Wredenberg, Anna, Okazaki, Yasushi, Wedell, Anna
Publicado 2015