检索结果 - Osaka, Hitoshi

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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