Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases
Murayama, Kei, Shimura, Masaru, Liu, Zhimei, Okazaki, Yasushi, Ohtake, Akira
Published in Journal of human genetics (01.02.2019)
Published in Journal of human genetics (01.02.2019)
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Journal Article
Perinatal lethal Gaucher disease: A case report and review of literature
Chida, Rie, Shimura, Masaru, Ishida, Yu, Suganami, Yusuke, Yamanaka, Gaku
Published in Brain & development (Tokyo. 1979) (01.02.2023)
Published in Brain & development (Tokyo. 1979) (01.02.2023)
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Journal Article
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
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 in PLoS genetics (01.01.2016)
Published in PLoS genetics (01.01.2016)
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Journal Article
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome
Kishita, Yoshihito, Ishikawa, Kaori, Nakada, Kazuto, Hayashi, Jun-Ichi, Fushimi, Takuya, Shimura, Masaru, Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Published in Scientific reports (27.05.2021)
Published in Scientific reports (27.05.2021)
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Journal Article
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
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
Published in Journal of inherited metabolic disease (01.09.2017)
Published in Journal of inherited metabolic disease (01.09.2017)
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Journal Article
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis
Maruyama, Hiroki, Miyata, Kaori, Mikame, Mariko, Taguchi, Atsumi, Guili, Chu, Shimura, Masaru, Murayama, Kei, Inoue, Takeshi, Yamamoto, Saori, Sugimura, Koichiro, Tamita, Koichi, Kawasaki, Toshihiro, Kajihara, Jun, Onishi, Akifumi, Sugiyama, Hitoshi, Sakai, Teiko, Murata, Ichijiro, Oda, Takamasa, Toyoda, Shigeru, Hanawa, Kenichiro, Fujimura, Takeo, Ura, Shigehisa, Matsumura, Mimiko, Takano, Hideki, Yamashita, Satoshi, Matsukura, Gaku, Tazawa, Ryushi, Shiga, Tsuyoshi, Ebato, Mio, Satoh, Hiroshi, Ishii, Satoshi
Published in Genetics in medicine (01.01.2019)
Published in Genetics in medicine (01.01.2019)
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Journal Article
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
Ittiwut, Chupong, Ittiwut, Rungnapa, Kuptanon, Chulaluck, Matsuhashi, Tetsuro, Shimura, Masaru, Sugiyama, Yohei, Onuki, Takanori, Ohtake, Akira, Murayama, Kei, Vatanavicharn, Nithiwat, Dejputtawat, Waralee, Tantisirivit, Nitchanund, Kor-anantakul, Phawin, Kamolvisit, Wuttichart, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Scientific reports (12.12.2023)
Published in Scientific reports (12.12.2023)
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Journal Article
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
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
Published in Scientific reports (16.11.2021)
Published in Scientific reports (16.11.2021)
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Journal Article
Effectiveness of low-dose riboflavin as a prophylactic agent in pediatric migraine
Yamanaka, Gaku, Suzuki, Shinji, Takeshita, Mika, Go, Soken, Morishita, Natsumi, Takamatsu, Tomoko, Daida, Atsuro, Morichi, Shinichiro, Ishida, Yu, Oana, Shingo, Nara, Shonosuke, Shimura, Masaru, Nishimata, Shigeo, Kawashima, Hisashi
Published in Brain & development (Tokyo. 1979) (01.08.2020)
Published in Brain & development (Tokyo. 1979) (01.08.2020)
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Journal Article
Efficacy of ketogenic diet for pyruvate dehydrogenase complex deficiency
Chida, Rie, Shimura, Masaru, Nishimata, Shigeo, Kashiwagi, Yasuyo, Kawashima, Hisashi
Published in Pediatrics international (01.11.2018)
Published in Pediatrics international (01.11.2018)
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Journal Article
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation
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
Published in Orphanet journal of rare diseases (24.07.2020)
Published in Orphanet journal of rare diseases (24.07.2020)
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Journal Article
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
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
Published in Scientific reports (11.02.2021)
Published in Scientific reports (11.02.2021)
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Journal Article
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
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, Hirata, Tomoko, Harashima, Hiroko, Nojiri, Shuko, Takeda, Atsuhito, Nakaya, Akihiro, Kogaki, Shigetoyo, Sakata, Yasushi, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Published in International journal of cardiology (15.10.2021)
Published in International journal of cardiology (15.10.2021)
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Journal Article
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
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
Published in Archives of disease in childhood. Fetal and neonatal edition (01.05.2022)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.05.2022)
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Journal Article
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
Sugiyama, Yohei, Watanabe, Taijiro, Tajika, Makiko, Matsuhashi, Tetsuro, Shimura, Masaru, Fushimi, Takuya, Ichimoto, Keiko, Matsunaga, Ayako, Ebihara, Tomohiro, Tsuruoka, Tomoko, Akiyama, Tomoyuki, Murayama, Kei
Published in Orphanet journal of rare diseases (23.02.2022)
Published in Orphanet journal of rare diseases (23.02.2022)
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Journal Article
Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient
Ban, Rui, Liu, Zhimei, Shimura, Masaru, Tong, Xiao, Wang, Junling, Yang, Lei, Xu, Manting, Xiao, Jing, Murayama, Kei, Elstner, Matthias, Prokisch, Holger, Fang, Fang
Published in Frontiers in genetics (12.07.2021)
Published in Frontiers in genetics (12.07.2021)
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Journal Article
A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter
Yamada, Hikari, Shimura, Masaru, Takahashi, Hidekuni, Nara, Shonosuke, Morishima, Yasuyuki, Go, Soken, Miyashita, Toshiyuki, Numabe, Hironao, Kawashima, Hisashi
Published in European journal of medical genetics (01.05.2020)
Published in European journal of medical genetics (01.05.2020)
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Journal Article
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency
Suyama, Tomonori, Shimura, Masaru, Fushimi, Takuya, Kuranobu, Naomi, Ichimoto, Keiko, Matsunaga, Ayako, Takayanagi, Masaki, Murayama, Kei
Published in Molecular genetics and metabolism reports (01.09.2020)
Published in Molecular genetics and metabolism reports (01.09.2020)
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Journal Article