Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2
Narishige, Yuta, Yaoita, Hisao, Shibuya, Moriei, Ikeda, Miki, Kodama, Kaori, Kawashima, Aritomo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Tanaka, Soichiro, Kobayashi, Yasuko, Onuma, Akira, Takayama, Jun, Tamiya, Gen, Kikuchi, Atsuo, Kure, Shigeo, Haginoya, Kazuhiro
Published in The Tohoku Journal of Experimental Medicine (01.04.2022)
Published in The Tohoku Journal of Experimental Medicine (01.04.2022)
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Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature
Shibuya, Moriei, Togashi, Noriko, Inui, Takehiko, Okubo, Yukimune, Endo, Wakaba, Miyabayashi, Takuya, Sato, Ryo, Takezawa, Yusuke, Kodama, Kaori, Ikeda, Miki, Kawashima, Aritomo, Haginoya, Kazuhiro
Published in The Tohoku Journal of Experimental Medicine (01.01.2022)
Published in The Tohoku Journal of Experimental Medicine (01.01.2022)
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Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A
Okubo, Yukimune, Shibuya, Moriei, Nakamura, Haruhiko, Kawashima, Aritomo, Kodama, Kaori, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Aihara, Yu, Shirota, Matsuyuki, Funayama, Ryo, Niihori, Tetsuya, Fujita, Atsushi, Nakayama, Keiko, Aoki, Yoko, Matsumoto, Naomichi, Kure, Shigeo, Kikuchi, Atsuo, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.10.2023)
Published in Brain & development (Tokyo. 1979) (01.10.2023)
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Long‐term clinical observation of patients with heterozygous KIF1A variants
Kawashima, Aritomo, Kodama, Kaori, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Ikeda, Miki, Katata, Yu, Togashi, Noriko, Ohba, Chihiro, Imagawa, Eri, Iwama, Kazuhiro, Mizuguchi, Takeshi, Kitami, Masahiro, Aihara, Yu, Takayama, Jun, Tamiya, Gen, Kikuchi, Atsuo, Kure, Shigeo, Saitsu, Hirotomo, Matsumoto, Naomichi, Haginoya, Kazuhiro
Published in American journal of medical genetics. Part A (01.10.2024)
Published in American journal of medical genetics. Part A (01.10.2024)
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Journal Article
Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature
Shibuya, Moriei, Togashi, Noriko, Inui, Takehiko, Okubo, Yukimune, Endo, Wakaba, Miyabayashi, Takuya, Sato, Ryo, Takezawa, Yusuke, Kodama, Kaori, Ikeda, Miki, Kawashima, Aritomo, Haginoya, Kazuhiro
Published in The Tohoku Journal of Experimental Medicine (2022)
Published in The Tohoku Journal of Experimental Medicine (2022)
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Journal Article
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A
Okubo, Yukimune, Shibuya, Moriei, Nakamura, Haruhiko, Kawashima, Aritomo, Kodama, Kaori, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Aihara, Yu, Shirota, Matsuyuki, Funayama, Ryo, Niihori, Tetsuya, Fujita, Atsushi, Nakayama, Keiko, Aoki, Yoko, Matsumoto, Naomichi, Kure, Shigeo, Kikuchi, Atsuo, Haginoya, Kazuhiro
Published in Brain & development (01.10.2023)
Published in Brain & development (01.10.2023)
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