Výsledky vyhledávání - Osaka, Hitoshi

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence Autor Lu, Yongping, Ondo, Yumiko, Shimojima, Keiko, Osaka, Hitoshi, Yamamoto, Toshiyuki

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Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene Autor Yamada, Yuma, Somiya, Kana, Miyauchi, Akihiko, Osaka, Hitoshi, Harashima, Hideyoshi

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Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia Autor Ueda, Ayako, Shimbo, Hiroko, Yada, Yukari, Koike, Yasunori, Yamagata, Takanori, Osaka, Hitoshi

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MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene Autor Wakabayashi, Kei, Osaka, Hitoshi, Kojima, Karin, Imaizumi, Taichi, Yamamoto, Toshiyuki, Yamagata, Takanori

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Intellectual disability and microcephaly associated with a novel CHAMP1 mutation Autor Asakura, Yuta, Osaka, Hitoshi, Aoi, Hiromi, Mizuguchi, Takeshi, Matsumoto, Naomichi, Yamagata, Takanori

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Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report Autor Iida, Shin, Nakamura, Masataka, Asayama, Shinya, Kunieda, Takenobu, Kaneko, Satoshi, Osaka, Hitoshi, Kusaka, Hirofumi

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Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1 Autor Kouga, Takeshi, Koizume, Shiro, Aoki, Shiho, Jimbo, Eriko, Yamagata, Takanori, Inoue, Ken, Osaka, Hitoshi

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MR-Revealed Myelination in the Cerebral Corticospinal Tract as a Marker for Pelizaeus-Merzbacher's Disease with Proteolipid Protein Gene Duplication Autor Takanashi, Jun-ichi, Sugita, Katsuo, Tanabe, Yuzo, Nagasawa, Kasumi, Inoue, Ken, Osaka, Hitoshi, Kohno, Yoichi

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A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency Autor Akiyama, Tomoyuki, Osaka, Hitoshi, Shimbo, Hiroko, Nakajiri, Tomoshi, Kobayashi, Katsuhiro, Oka, Makio, Endoh, Fumika, Yoshinaga, Harumi

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Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome Autor Ikeda, Takahiro, Osaka, Hitoshi, Shimbo, Hiroko, Tajika, Makiko, Yamazaki, Masayo, Ueda, Ayako, Murayama, Kei, Yamagata, Takanori

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A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia Autor Hashiguchi, Marina, Monden, Yukifumi, Nozaki, Yasuyuki, Watanabe, Kazuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamagata, Takanori, Osaka, Hitoshi

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Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes Autor Kondo, Takayuki, Funayama, Misato, Miyake, Michiyo, Tsukita, Kayoko, Era, Takumi, Osaka, Hitoshi, Ayaki, Takashi, Takahashi, Ryosuke, Inoue, Haruhisa

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Erratum to: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes Autor Kondo, Takayuki, Funayama, Misato, Miyake, Michiyo, Tsukita, Kayoko, Era, Takumi, Osaka, Hitoshi, Ayaki, Takashi, Takahashi, Ryosuke, Inoue, Haruhisa

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Probiotics Prevents Sensitization to Oral Antigen and Subsequent Increases in Intestinal Tight Junction Permeability in Juvenile–Young Adult Rats Autor Tulyeu, Janyerkye, Kumagai, Hideki, Jimbo, Eriko, Watanabe, Shinya, Yokoyama, Koji, Cui, Longzhu, Osaka, Hitoshi, Mieno, Makiko, Yamagata, Takanori

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Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy Autor Ikeda, Takahiro, Kawahara, Yuta, Miyauchi, Akihiko, Niijima, Hitomi, Furukawa, Rieko, Shimozawa, Nobuyuki, Morimoto, Akira, Osaka, Hitoshi, Yamagata, Takanori

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Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication Autor Masuda, Takuya, Osaka, Hitoshi, Tsuchida, Naomi, Miyatake, Satoko, Nishimura, Kou, Takenouchi, Toshiki, Takahashi, Takao, Matsumoto, Naomichi, Yamagata, Takanori

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Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex Autor Natsuga, Ken, Nishie, Wataru, Shinkuma, Satoru, Arita, Ken, Nakamura, Hideki, Ohyama, Makiko, Osaka, Hitoshi, Kambara, Takeshi, Hirako, Yoshiaki, Shimizu, Hiroshi

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HIF2α-Sp1 interaction mediates a deacetylation-dependent FVII-gene activation under hypoxic conditions in ovarian cancer cells Autor Koizume, Shiro, Ito, Shin, Miyagi, Etsuko, Hirahara, Fumiki, Nakamura, Yoshiyasu, Sakuma, Yuji, Osaka, Hitoshi, Takano, Yasuo, Ruf, Wolfram, Miyagi, Yohei

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A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease Autor Wada, Takahito, Haddad, Marie Reine, Yi, Ling, Murakami, Tomomi, Sasaki, Akiko, Shimbo, Hiroko, Kodama, Hiroko, Osaka, Hitoshi, Kaler, Stephen G.

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Gene Therapy in a Mouse Model of Niemann–Pick Disease Type C1 Autor Kurokawa, Yoshie, Osaka, Hitoshi, Kouga, Takeshi, Jimbo, Eriko, Muramatsu, Kazuhiro, Nakamura, Sachie, Takayanagi, Yuki, Onaka, Tatsushi, Muramatsu, Shin-ichi, Yamagata, Takanori

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