A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor
Aihara, Yu, Shirota, Matsuyuki, Kikuchi, Atsuo, Katata, Yu, Abe, Yu, Niihori, Tetsuya, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kure, Shigeo
Published in Journal of human genetics (01.01.2023)
Published in Journal of human genetics (01.01.2023)
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Journal Article
A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder
Iwafuchi, Sota, Kikuchi, Atsuo, Endo, Wakaba, Inui, Takehiko, Aihara, Yu, Satou, Kazuhito, Kaname, Tadashi, Kure, Shigeo
Published in Brain & development (Tokyo. 1979) (01.02.2021)
Published in Brain & development (Tokyo. 1979) (01.02.2021)
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Journal Article
The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation
Abe, Yu, Aihara, Yu, Endo, Wakaba, Hasegawa, Hiroshi, Ichida, Kimiyoshi, Uematsu, Mitsugu, Kure, Shigeo
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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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 (Tokyo. 1979) (01.10.2023)
Published in Brain & development (Tokyo. 1979) (01.10.2023)
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Journal Article
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
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant
Katata, Yu, Uneoka, Saki, Saijyo, Naoya, Aihara, Yu, Miyazoe, Takamitsu, Koyamaishi, Shun, Oikawa, Yoshitsugu, Ito, Yuya, Abe, Yu, Numata‐Uematsu, Yurika, Takayama, Jun, Kikuchi, Atsuo, Tamiya, Gen, Uematsu, Mitsugu, Kure, Shigeo
Published in American journal of medical genetics. Part A (01.04.2022)
Published in American journal of medical genetics. Part A (01.04.2022)
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Journal Article
Initial vasodilatation in a child with reversible cerebral vasoconstriction syndrome
Oikawa, Yoshitsugu, Okubo, Yukimune, Numata-Uematsu, Yurika, Aihara, Yu, Kitamura, Taro, Takayanagi, Masaru, Takahashi, Yukitoshi, Kure, Shigeo, Uematsu, Mitsugu
Published in Journal of clinical neuroscience (01.05.2017)
Published in Journal of clinical neuroscience (01.05.2017)
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Journal Article
Pneumatosis Cystoides Intestinalis in Muscular Dystrophy and Congenital Myopathies: A Report of Five Cases
Aihara, Yu, Takeshita, Eri, Chiba, Emiko, Yamamoto, Kaoru, Shimizu-Motohashi, Yuko, Sato, Noriko, Ariga, Hajime, Komaki, Hirofumi
Published in Curēus (Palo Alto, CA) (27.05.2024)
Published in Curēus (Palo Alto, CA) (27.05.2024)
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Journal Article
Behavioral problems and family distress in tuberous sclerosis complex
Uematsu, Mitsugu, Numata-Uematsu, Yurika, Aihara, Yu, Kobayashi, Tomoko, Fujikawa, Mayu, Togashi, Noriko, Shiihara, Takashi, Ohashi, Kei, Hattori, Ayako, Saitoh, Shinji, Kure, Shigeo
Published in Epilepsy & behavior (01.10.2020)
Published in Epilepsy & behavior (01.10.2020)
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Journal Article
Long-term follow-up case of 14q12 deletion syndrome: A case report
Aihara, Yu, Sumitomo, Noriko, Shimizu-Motohashi, Yuko, Inoue, Ken, Goto, Yu-ichi, Komaki, Hirofumi
Published in Brain and Development Case Reports (01.06.2024)
Published in Brain and Development Case Reports (01.06.2024)
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Journal Article
Frequent breath-hold while awakening in SATB1 missense variant: A case report
Aihara, Yu, Saito, Takashi, Suenaga, Yuta, Miyana, Kaori, Itai, Toshiyuki, Miyatake, Satoko, Yamamoto, Kaoru, Sumitomo, Noriko, Baba, Shimpei, Takeshita, Eri, Shimizu-Motohashi, Yuko, Takahashi, Yuji, Mizusawa, Hidehiro, Matsumoto, Naomichi, Sasaki, Masayuki
Published in Brain and Development Case Reports (01.12.2024)
Published in Brain and Development Case Reports (01.12.2024)
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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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The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant
Katata, Yu, Uneoka, Saki, Saijyo, Naoya, Aihara, Yu, Miyazoe, Takamitsu, Koyamaishi, Shun, Oikawa, Yoshitsugu, Ito, Yuya, Abe, Yu, Numata-Uematsu, Yurika, Takayama, Jun, Kikuchi, Atsuo, Tamiya, Gen, Uematsu, Mitsugu, Kure, Shigeo
Published in American journal of medical genetics. Part A (01.04.2022)
Published in American journal of medical genetics. Part A (01.04.2022)
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