Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene
Yamada, Yuma, Somiya, Kana, Miyauchi, Akihiko, Osaka, Hitoshi, Harashima, Hideyoshi
Published in Scientific reports (05.05.2020)
Published in Scientific reports (05.05.2020)
Get full text
Journal Article
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency
Kojima, Karin, Nakajima, Takeshi, Taga, Naoyuki, Miyauchi, Akihiko, Kato, Mitsuhiro, Matsumoto, Ayumi, Ikeda, Takahiro, Nakamura, Kazuyuki, Kubota, Tetsuo, Mizukami, Hiroaki, Ono, Sayaka, Onuki, Yoshiyuki, Sato, Toshihiko, Osaka, Hitoshi, Muramatsu, Shin-ichi, Yamagata, Takanori
Published in Brain (London, England : 1878) (01.02.2019)
Published in Brain (London, England : 1878) (01.02.2019)
Get full text
Journal Article
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy
Hamanaka, Kohei, Imagawa, Eri, Koshimizu, Eriko, Miyatake, Satoko, Tohyama, Jun, Yamagata, Takanori, Miyauchi, Akihiko, Ekhilevitch, Nina, Nakamura, Fumio, Kawashima, Takeshi, Goshima, Yoshio, Mohamed, Ahmad Rithauddin, Ch'ng, Gaik-Siew, Fujita, Atsushi, Azuma, Yoshiteru, Yasuda, Ken, Imamura, Shintaro, Nakashima, Mitsuko, Saitsu, Hirotomo, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Matsumoto, Naomichi
Published in American journal of human genetics (02.04.2020)
Published in American journal of human genetics (02.04.2020)
Get full text
Journal Article
Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors
Miyauchi, Akihiko, Watanabe, Chika, Yamada, Naoya, Jimbo, Eriko F., Kobayashi, Mizuki, Ohishi, Natsumi, Nagayoshi, Atsuko, Aoki, Shiho, Kishita, Yoshihito, Ohtake, Akira, Ohno, Nobuhiko, Takahashi, Masafumi, Yamagata, Takanori, Osaka, Hitoshi
Published in Scientific reports (27.02.2024)
Published in Scientific reports (27.02.2024)
Get full text
Journal Article
Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome
Kobayashi, Mizuki, Miyauchi, Akihiko, Jimbo, Eriko F., Oishi, Natsumi, Aoki, Shiho, Watanabe, Miyuki, Yoshikawa, Yasushi, Akiyama, Yutaka, Yamagata, Takanori, Osaka, Hitoshi
Published in Scientific reports (21.05.2024)
Published in Scientific reports (21.05.2024)
Get full text
Journal Article
Two cases of DYNC1H1 mutations with intractable epilepsy
Matsumoto, Ayumi, Kojima, Karin, Miya, Fuyuki, Miyauchi, Akihiko, Watanabe, Kazuhisa, Iwamoto, Sadahiko, Kawai, Kensuke, Kato, Mitsuhiro, Takahashi, Yukitoshi, Yamagata, Takanori
Published in Brain & development (Tokyo. 1979) (01.09.2021)
Published in Brain & development (Tokyo. 1979) (01.09.2021)
Get full text
Journal Article
A Case of Infantile Mitochondrial Cardiomyopathy Treated with a Combination of Low-Dose Propranolol and Cibenzoline for Left Ventricular Outflow Tract Stenosis
Shimozawa, Hironori, Sato, Tomoyuki, Osaka, Hitoshi, Takeda, Atsuhito, Miyauchi, Akihiko, Omika, Narumi, Yada, Yukari, Kono, Yumi, Murayama, Kei, Okazaki, Yasushi, Kishita, Yoshihito, Yamagata, Takanori
Published in International Heart Journal (30.09.2022)
Published in International Heart Journal (30.09.2022)
Get full text
Journal Article
A female case of aromatic l -amino acid decarboxylase deficiency responsive to MAO-B inhibition
Kojima, Karin, Anzai, Rie, Ohba, Chihiro, Goto, Tomohide, Miyauchi, Akihiko, Thöny, Beat, Saitsu, Hirotomo, Matsumoto, Naomichi, Osaka, Hitoshi, Yamagata, Takanori
Published in Brain & development (Tokyo. 1979) (01.11.2016)
Published in Brain & development (Tokyo. 1979) (01.11.2016)
Get full text
Journal Article
An Efficient Cu/BaO/La2O3 Catalyst for the Simultaneous Removal of Carbon Soot and Nitrogen Oxides from Simulated Diesel Exhaust
Mori, Kohsuke, Iwata, Yoshiro, Yamamoto, Makoto, Kimura, Naoto, Miyauchi, Akihiko, Okamoto, Go, Toyoshima, Takahiro, Yamashita, Hiromi
Published in Journal of physical chemistry. C (01.05.2014)
Published in Journal of physical chemistry. C (01.05.2014)
Get full text
Journal Article
Miglustat therapy in a case of early-infantile Niemann-Pick type C
Usui, Miho, Miyauchi, Akihiko, Nakano, Yuko, Nakamura, Sachie, Jimbo, Eriko, Itamura, Shinji, Adachi, Kaori, Nanba, Eiji, Narita, Aya, Yamagata, Takanori, Osaka, Hitoshi
Published in Brain & development (Tokyo. 1979) (01.11.2017)
Published in Brain & development (Tokyo. 1979) (01.11.2017)
Get full text
Journal Article
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation
Kojima, Karin, Shirai, Kentaro, Kobayashi, Mizuki, Miyauchi, Akihiko, Saitsu, Hirotomo, Matsumoto, Naomichi, Osaka, Hitoshi, Yamagata, Takanori
Published in Brain & development (Tokyo. 1979) (01.01.2018)
Published in Brain & development (Tokyo. 1979) (01.01.2018)
Get full text
Journal Article
A case of severe movement disorder with GNAO1 mutation responsive to topiramate
Sakamoto, Saori, Monden, Yukifumi, Fukai, Ryoko, Miyake, Noriko, Saito, Hiroshi, Miyauchi, Akihiko, Matsumoto, Ayumi, Nagashima, Masako, Osaka, Hitoshi, Matsumoto, Naomichi, Yamagata, Takanori
Published in Brain & development (Tokyo. 1979) (01.05.2017)
Published in Brain & development (Tokyo. 1979) (01.05.2017)
Get full text
Journal Article
Japanese Leigh syndrome case treated with EPI-743
Kouga, Takeshi, Takagi, Mariko, Miyauchi, Akihiko, Shimbo, Hiroko, Iai, Mizue, Yamashita, Sumimasa, Murayama, Kei, Klein, Matthew B., Miller, Guy, Goto, Tomohide, Osaka, Hitoshi
Published in Brain & development (Tokyo. 1979) (01.02.2018)
Published in Brain & development (Tokyo. 1979) (01.02.2018)
Get full text
Journal Article
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation
Miyauchi, Akihiko, Osaka, Hitoshi, Nagashima, Masako, Kuwajima, Mari, Monden, Yukifumi, Kohda, Masakazu, Kishita, Yoshihito, Okazaki, Yasushi, Murayama, Kei, Ohtake, Akira, Yamagata, Takanori
Published in Brain & development (Tokyo. 1979) (01.06.2018)
Published in Brain & development (Tokyo. 1979) (01.06.2018)
Get full text
Journal Article
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease
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
Published in Molecular genetics and metabolism reports (01.03.2023)
Published in Molecular genetics and metabolism reports (01.03.2023)
Get full text
Journal Article
Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies
Nagashima, Masako, Osaka, Hitoshi, Ikeda, Takahiro, Matsumoto, Ayumi, Miyauchi, Akihiko, Kaneko, Kimihiko, Nakashima, Ichiro, Nakano, Yuko, Wakabayashi, Kei, Monden, Yukifumi, Yamagata, Takanori
Published in Brain & development (Tokyo. 1979) (01.08.2018)
Published in Brain & development (Tokyo. 1979) (01.08.2018)
Get full text
Journal Article
Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy
Ikeda, Takahiro, Kawahara, Yuta, Miyauchi, Akihiko, Niijima, Hitomi, Furukawa, Rieko, Shimozawa, Nobuyuki, Morimoto, Akira, Osaka, Hitoshi, Yamagata, Takanori
Published in JIMD reports (01.01.2022)
Published in JIMD reports (01.01.2022)
Get full text
Journal Article