Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Shumpei Uchino"'
Autor:
Nodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, Kazuyuki Nakamura, Shinjiro Akaboshi, Masataka Fukuoka, Masami Togawa, Shingo Oana, Koyo Ohno, Mariko Kasai, Chikako Ogawa, Kazuna Yamamoto, Kiyohito Okumiya, Pin Fee Chong, Ryutaro Kira, Shumpei Uchino, Tetsuhiro Fukuyama, Tomoe Shinagawa, Yohane Miyata, Yuichi Abe, Akira Hojo, Kozue Kobayashi, Yoshihiro Maegaki, Nobutsune Ishikawa, Hiroko Ikeda, Masano Amamoto, Takeshi Mizuguchi, Kazuhiro Iwama, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
Publikováno v:
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Abstract Objective To elucidate the genetic background and genotype‐phenotype correlations for epilepsy with myoclonic‐atonic seizures, also known as myoclonic‐astatic epilepsy (MAE) or Doose syndrome. Methods We collected clinical information
Externí odkaz:
https://doaj.org/article/17efe75a57e94761b422dbd148928d15
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100809- (2021)
Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced dystonia. More than 60 patients with this condition have been reported till date.
Externí odkaz:
https://doaj.org/article/ade6758023d041699e4aaf4d74f60a8f
Autor:
Kazuyuki Nakamura, Nodoka Hinokuma, Nobutsune Ishikawa, Koyo Ohno, Kazuhiro Iwama, Satoko Miyatake, Masataka Fukuoka, Naomichi Matsumoto, Kazuna Yamamoto, Masano Amamoto, Mariko Kasai, Tetsuhiro Fukuyama, Toshiyuki Itai, Shinjiro Akaboshi, Chikako Ogawa, Yohane Miyata, Pin Fee Chong, Hiroko Ikeda, Tomoe Shinagawa, Yuichi Abe, Mitsuhiro Kato, Kiyohito Okumiya, Shingo Oana, Shumpei Uchino, Kozue Kobayashi, Ryutaro Kira, Hideyuki Asai, Akira Hojo, Masami Togawa, Hirotomo Saitsu, Yoshihiro Maegaki, Mitsuko Nakashima, Takeshi Mizuguchi
Publikováno v:
Epilepsia Open
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Objective To elucidate the genetic background and genotype‐phenotype correlations for epilepsy with myoclonic‐atonic seizures, also known as myoclonic‐astatic epilepsy (MAE) or Doose syndrome. Methods We collected clinical information and blood
Autor:
Leentje Van Lommel, Ikuya Nonaka, Tsutomu Takahashi, Katsunori Fujii, Masakazu Mimaki, Ichizo Nishino, Michio Inoue, Hirofumi Komaki, Shinichiro Hayashi, Takuya Yoshizawa, Yu-ichi Goto, Satoru Noguchi, Shumpei Uchino, Yukinori Okada, Aritoshi Iida, Eri Takeshita, Frans Schuit
Publikováno v:
Annals of Neurology. 86:193-202
OBJECTIVE Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain defect that has vast genetic and phenotypic heterogeneity. This study aims to identify novel causative genes of COX deficiency with only striated muscle-specif
Autor:
Pierluigi Martelli, Tom J. de Koning, Takema Kato, Irene Liparulo, Mariko Taniguchi-Ikeda, Tatsushi Toda, Hisayoshi Nakamura, Wilfred F. A. den Dunnen, Giovanna Cenacchi, Sanjiban Chakrabarty, Yu Sheng Yeh, Sushil Kumar Mishra, Rita Casadio, Akira Ohtake, Ichizo Nishino, Roberto De Giorgio, Paolo Picco, Pasquale Striano, Chiara Fiorillo, Isabella Ceccherini, Tsuyoshi Goto, Elisa Boschetti, Makiko Tsutsumi, Eleonora Aronica, Georgios Kellaris, Mariel Alders, Gabor E. Linthorst, Jantima Tanboon, Angela Rita Sementa, Floor A. M. Duijkers, Yu Ichi Goto, Hiroki Kurahashi, Masakazu Mimaki, Gerard Dijkstra, Dik C. van Gent, Mariasavina Severino, Yoshinobu Oyazato, Christian Bergamini, Ikuya Nonaka, Yoshiki Yamaguchi, Ivana Matera, Giuseppe Raiola, Karin Van Spaendonck, Nicholas Katsanis, Luca Masin, Shumpei Uchino, Kenjiro Kosaki, Sara Signa, Anja Raams, Federica Isidori, Elena Bonora, Serena Arrigo, Kandai Nozu, Marc Engelen, Farid Ullah, Ichiro Morioka, Chiara Diquigiovanni, Marco Seri, Valerio Carelli, Francesca Bianco, Mariapia Giuditta Cratere, Nicola Rizzardi, Romana Fato, Alessandra Maresca, Alyson W. MacInnes, Valentina Papa, Kazumoto Iijima
Publikováno v:
Brain : a Journal of Neurology, 144(5), 1451-1466. Oxford University Press
Brain, 144(5), 1451-1466. Oxford University Press
Brain, 144(5), 1451-1466. Oxford University Press
Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e470f830e056717e954489f79a11efb4
http://hdl.handle.net/11567/1065221
http://hdl.handle.net/11567/1065221
Autor:
Fusako Yokochi, Yohane Miyata, Makoto Taniguchi, Naomichi Matsumoto, Shumpei Uchino, Satoko Miyatake, Satoko Kumada, Kohei Hamanaka
Publikováno v:
Neurology and Clinical Neuroscience. 8:36-38
Autor:
Naomichi Matsumoto, Takanori Yamagata, Yusuke Hamada, Shumpei Uchino, Kei Murayama, Noriko Miyake, Akira Ohtake, Mari Kuwajima, Tomomi Ogata, Yoshihito Kishita, Eriko F. Jimbo, Karin Kojima, Yasushi Okazaki, Yukiko Yatsuka, Miyuki Watanabe, Masakazu Kohda, Shiho Aoki, Masakazu Mimaki, Keiko Ichimoto, Takuya Fushimi, Kazuhiro Muramatsu, Ikuko Sato-Shirai, Hitoshi Osaka
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100809-(2021)
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100809-(2021)
Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced dystonia. More than 60 patients with this condition have been reported till date.
Autor:
Atsushi Sato, Masakazu Mimaki, Yu-ichi Goto, Shumpei Uchino, Aritoshi Iida, Ichizo Nishino, Keiko Ishikawa
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction. Certain LS cases have mutations in ECHS1, which encodes a short-chain enoyl-CoA hydratase involved in the metabolism of fatty acids and branched-ch
Autor:
Yu-ichi Goto, Shumpei Uchino, Akihiko Ishiyama, C. Sakai, Masakazu Mimaki, Tomomi Ogata, Hirofumi Komaki, Masayuki Sasaki, E. Suzuki, Nishiki Makioka, Kazuhiro Muramatsu, Yuichi Matsushima, Ichizo Nishino
Publikováno v:
Clinical genetics. 93(5)
Genetic abnormalities in mitochondrial complex assembling factors are associated with leukoencephalopathy. We present a 1-year-old girl with consciousness disturbance after a respiratory infection. Brain MRI revealed leukoencephalopathy with bilatera
Autor:
L. Van Lommel, Michio Inoue, Shinichiro Hayashi, Shumpei Uchino, Takuya Yoshizawa, Hirofumi Komaki, Satoru Noguchi, Ikuya Nonaka, Masakazu Mimaki, Eri Takeshita, Ichizo Nishino, F. Schuit, Tatsuji Takahashi, Aritoshi Iida, Katsunori Fujii, Yu-ichi Goto
Publikováno v:
Neuromuscular Disorders. 29:S38