Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Yoshiteru Osone"'
Autor:
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, Sze Chern Lim, Yukiko Yatsuka, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100912- (2022)
Biallelic deletions extending into the ATPase family AAA-domain containing protein 3A (ATAD3A) gene lead to infantile lethality with severe pontocerebellar hypoplasia (PCH). However, only 12 such cases have been reported worldwide to date, and the ge
Externí odkaz:
https://doaj.org/article/188d708aee554ecca9d11c314c2a3186
Autor:
Tomohiro Ebihara, Yohei Sugiyama, Taro Nagatomo, Keiko Ichimoto, Makiko Tajika, Minako Ogawa-Tominaga, Nana Akiyama, Yasushi Okazaki, Kei Murayama, Atsuko Imai-Okazaki, Takuya Fushimi, Yukiko Yatsuka, Masaru Shimura, Kazuhiro R. Nitta, Yoshiteru Osone, Tetsuro Matsuhashi, Yoshihito Kishita, Akira Ohtake, Tomoko Tsuruoka, Ayako Matsunaga
Publikováno v:
Archives of Disease in Childhood - Fetal and Neonatal Edition. 107:329-334
ObjectiveNeonatal-onset mitochondrial disease has not been fully characterised owing to its heterogeneity. We analysed neonatal-onset mitochondrial disease in Japan to clarify its clinical features, molecular diagnosis and prognosis.DesignRetrospecti
Autor:
Yoshiteru Osone, Mami Tanaka, Satoshi Handa, Ryota Seki, Makio Shozu, Masaomi Iyo, Michiko Nakazato, Akiko Omoto, Jun Okayama, Aiko Sato, Nobuhisa Kanahara, Atsushi Kimura, Hiroshi Kimura, Hiroyuki Watanabe, Tasuku Hashimoto, Hirokazu Tanaka, Mamiko Endo
Publikováno v:
Clinical Neuropsychopharmacology and Therapeutics. 11:61-66
Autor:
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Tetsuro Matsuhashi, Keiko Ichimoto, Ayako Matsunaga, Nana Akiyama, Minako Ogawa-Tominaga, Yukiko Yatsuka, Nitta, Kazuhiro R., Yoshihito Kishita, Takuya Fushimi, Atsuko Imai-Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Publikováno v:
Archives of Disease in Childhood -- Fetal & Neonatal Edition; May2022, Vol. 107 Issue 3, pF329-F334, 6p