Literature DB >> 30788637

Reply to the "Letter to the Editor" from Dr. J Finsterer and colleagues.

Yuichiro Hisatomi1, Kei Murayama2, Akira Ohtake3, Yasushi Okazaki4,5.   

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Year:  2019        PMID： 30788637     DOI： 10.1007/s10048-019-00567-4

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  5 in total

1.  Drugs indicated for mitochondrial dysfunction as treatments for acute encephalopathy with onset of febrile convulsive status epileptics.

Authors:  Taku Omata; Katsunori Fujii; Jun-Ichi Takanashi; Kei Murayama; Masaki Takayanagi; Kaori Muta; Kazuo Kodama; Yukiko Iida; Yoshimi Watanabe; Naoki Shimojo
Journal:  J Neurol Sci       Date:  2015-11-24       Impact factor: 3.181

2.  Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.

Authors:  Nurun Nahar Borna; Yoshihito Kishita; Masakazu Kohda; Sze Chern Lim; Masaru Shimura; Yibo Wu; Kaoru Mogushi; Yukiko Yatsuka; Hiroko Harashima; Yuichiro Hisatomi; Takuya Fushimi; Keiko Ichimoto; Kei Murayama; Akira Ohtake; Yasushi Okazaki
Journal:  Neurogenetics       Date:  2019-01-03       Impact factor: 2.660

3.  Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.

Authors:  Hirofumi Komaki; Yutaka Nishigaki; Noriyuki Fuku; Hiroko Hosoya; Kei Murayama; Akira Ohtake; Yu-Ichi Goto; Hiroyuki Wakamoto; Yasutoshi Koga; Masashi Tanaka
Journal:  Biochim Biophys Acta       Date:  2009-07-17

4.  Leigh syndrome: clinical features and biochemical and DNA abnormalities.

Authors:  S Rahman; R B Blok; H H Dahl; D M Danks; D M Kirby; C W Chow; J Christodoulou; D R Thorburn
Journal:  Ann Neurol       Date:  1996-03       Impact factor: 10.422

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

Authors:  Erika Ogawa; Masaru Shimura; Takuya Fushimi; Makiko Tajika; Keiko Ichimoto; Ayako Matsunaga; Tomoko Tsuruoka; Mika Ishige; Tatsuo Fuchigami; Taro Yamazaki; Masato Mori; Masakazu Kohda; Yoshihito Kishita; Yasushi Okazaki; Shori Takahashi; Akira Ohtake; Kei Murayama
Journal:  J Inherit Metab Dis       Date:  2017-04-20       Impact factor: 4.982
  5 in total

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