Search Results - "山本俊至"

O-130. 10番染色体長腕の逆位重複異常を背景とし重症サイレントループス腎炎を合併したSLEの女児例 by 金子修也, 清水正樹, 伊良部仁, 真保麻実, 山崎晋, 金森透, 宇田川智宏, 山本俊至, 森尾友宏, 森雅亮

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O-115. 巣状分節性糸球体硬化症 / ステロイド抵抗性ネフローゼ症候群の腎移植患者における遺伝子変異の割合と経年的変化の検討 by 江口誠, 三浦健一郎, 橋本多恵子, 安藤太郎, 中谷諒, 中村実沙子, 加藤彩, 白井陽子, 石塚喜世伸, 張田豊, 山本俊至, 三井哲夫, 服部元史

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Molecular screening for moyamoya disease by use of expressed sequence tag on chromosome 3p by Yamamoto, Toshiyuki, Akasaka, Yuko, Ohtani, Kyoichi, Hayashi, Takashi, Kashiwagi, Shiro, Ichiyama, Takashi, Nishikawa, Miki, Kato, Mitsuhiro, Maegaki, Yoshihiro, Oka, Akira, Ohno, Kousaku

“…Moyamoya disease is a well-known cerebrovascular disorder of unknown pathogenesis affecting terminal portion of internal carotid arteries and causing ischemic…”
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No association between moyamoya disease and polymorphism of IGF2R by Yamamoto, Toshiyuki, Akasaka, Yuko, Ohtani, Kyoichi, Hayashi, Takashi, Kashiwagi, Shiro, Ichiyama, Takashi, Nishikawa, Miki, Kato, Mitsuhiro, Maegaki, Yoshihiro, Oka, Akira, Ohno, Kousaku

“…Moyamoya disease is a cerebrovascular disorder of unknown etiology. Its high incidence in East Asia and accumulation in family members suggest a genetic…”
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Taste disturbance as an initial manifestation of Guillain-Barré syndrome in a 14-year-old girl by Dejima, S, Yamamoto, T, Maeoka, Y, Maegaki, Y, Hara, T

“…We reported a 14-year-old girl who showed taste disturbance as an initial manifestation of Guillain-Barré syndrome (GBS). After an upper respiratory infection,…”
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Two cases of post-encephalitic epilepsy characterized by auditory cognitive dysfunction; comparison with "a peculiar type of post-encephalitic/encephalopathic epilepsy" by Yamamoto, T, Nanba, Y, Kodani, N, Maegaki, Y, Shiota, M, Koeda, T, Ando, Y

“…Two cases of post-encephalitic epilepsy mainly characterized by auditory cognitive dysfunction were reported. In acute phase they only showed slight…”
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A two-year-old clinically manifesting carrier of Duchenne muscular dystrophy by Yamamoto, T, Kawahara, H, Inagaki, M, Ohta, S

“…A two-year-old symptomatic carrier of Duchenne muscular dystrophy (DMD) confirmed by dystrophin immunohistochemical study was reported. She had mild proximal…”
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The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations by Hamatani, Mio, Jingami, Naoto, Tsurusaki, Yoshinori, Shimada, Shino, Shimojima, Keiko, Asada-Utsugi, Megumi, Yoshinaga, Kenji, Uemura, Norihito, Yamashita, Hirofumi, Uemura, Kengo, Takahashi, Ryosuke, Matsumoto, Naomichi, Yamamoto, Toshiyuki

“…Even now, only a portion of leukodystrophy patients are correctly diagnosed, though various causative genes have been identified. In the present report, we…”
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