Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients
Momosaki, Ken, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Miyamoto, Tatsuki, Inoue, Takahito, Okumiya, Toshika, Matsumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi
Published in Journal of human genetics (01.08.2019)
Published in Journal of human genetics (01.08.2019)
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De novo KCNT1 mutations in early‐onset epileptic encephalopathy
Ohba, Chihiro, Kato, Mitsuhiro, Takahashi, Nobuya, Osaka, Hitoshi, Shiihara, Takashi, Tohyama, Jun, Nabatame, Shin, Azuma, Junji, Fujii, Yuji, Hara, Munetsugu, Tsurusawa, Reimi, Inoue, Takahito, Ogata, Reina, Watanabe, Yoriko, Togashi, Noriko, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Epilepsia (Copenhagen) (01.09.2015)
Published in Epilepsia (Copenhagen) (01.09.2015)
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Shaking table tests of a full‐scale 10‐story reinforced‐concrete building (2015). Phase II: Seismic resisting system
Kang, Jae‐Do, Kajiwara, Koichi, Tosauchi, Yusuke, Sato, Eiji, Inoue, Takahito, Kabeyasawa, Toshimi, Shiohara, Hitoshi, Nagae, Takuya, Kabeyasawa, Toshikazu, Fukuyama, Hiroshi, Mukai, Tomohisa
Published in Earthquake engineering & structural dynamics (01.05.2023)
Published in Earthquake engineering & structural dynamics (01.05.2023)
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Current status of newborn screening for Pompe disease in Japan
Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Momosaki, Ken, Yoshida, Shinichiro, Kojima-Ishii, Kanako, Inoue, Takahito, Matsumoto, Shirou, Endo, Fumio, Ohga, Shouichi, Hirose, Shinichi, Nakamura, Kimitoshi
Published in Orphanet journal of rare diseases (18.12.2021)
Published in Orphanet journal of rare diseases (18.12.2021)
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Newborn screening for Fabry disease in the western region of Japan
Sawada, Takaaki, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Momosaki, Ken, Inoue, Takahito, Tajima, Go, Sawada, Hirotake, Mastumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.03.2020)
Published in Molecular genetics and metabolism reports (01.03.2020)
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Infant with accidental ingestion of heated tobacco
Maruyama, Taichi, Sasaoka, Daiki, Fujii, Yuko, Mori, Sayo, Inoue, Takahito, Ogawa, Atsushi
Published in Journal of the American College of Emergency Physicians Open (01.06.2023)
Published in Journal of the American College of Emergency Physicians Open (01.06.2023)
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Effects of cane use on walking parameters and lower limb muscle activity in adults with spastic cerebral palsy: a cross-sectional study
Inoue, Takahito, Sato, Yui, Shimizu, Kotaro, Tashiro, Hideyuki, Yokoi, Yuichiro, Kozuka, Naoki
Published in Journal of Physical Therapy Science (01.01.2021)
Published in Journal of Physical Therapy Science (01.01.2021)
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Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan
Hattori, Yusuke, Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Yoshida, Shinichiro, Matsumoto, Shirou, Inoue, Takahito, Hirose, Shinichi, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
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Afadin regulates puncta adherentia junction formation and presynaptic differentiation in hippocampal neurons
Toyoshima, Daisaku, Mandai, Kenji, Maruo, Tomohiko, Supriyanto, Irwan, Togashi, Hideru, Inoue, Takahito, Mori, Masahiro, Takai, Yoshimi
Published in PloS one (27.02.2014)
Published in PloS one (27.02.2014)
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Newborn screening for Gaucher disease in Japan
Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Yoshida, Shinichiro, Matsumoto, Shirou, Shimazu, Tomoyuki, Matsushita, Yuki, Inoue, Takahito, Hirose, Shinichi, Endo, Fumio, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.06.2022)
Published in Molecular genetics and metabolism reports (01.06.2022)
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Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)
Fukuma, Goryu, Oguni, Hirokazu, Shirasaka, Yukiyoshi, Watanabe, Kazuyoshi, Miyajima, Tasuku, Yasumoto, Sawa, Ohfu, Masaharu, Inoue, Takahito, Watanachai, Aruchalean, Kira, Ryutaro, Matsuo, Muneaki, Muranaka, Hideki, Sofue, Fumiko, Zhang, Bo, Kaneko, Sunao, Mitsudome, Akihisa, Hirose, Shinichi
Published in Epilepsia (Copenhagen) (01.02.2004)
Published in Epilepsia (Copenhagen) (01.02.2004)
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PCDH19 -related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy
Higurashi, Norimichi, Nakamura, Mai, Sugai, Misaki, Ohfu, Masaharu, Sakauchi, Masako, Sugawara, Yuji, Nakamura, Kazuyuki, Kato, Mitsuhiro, Usui, Daisuke, Mogami, Yukiko, Fujiwara, Yumi, Ito, Tomoshiro, Ikeda, Hiroko, Imai, Katsumi, Takahashi, Yukitoshi, Nukui, Megumi, Inoue, Takeshi, Okazaki, Shin, Kirino, Tomoko, Tomonoh, Yuko, Inoue, Takahito, Takano, Kyoko, Shimakawa, Shuichi, Hirose, Shinichi
Published in Epilepsy research (01.09.2013)
Published in Epilepsy research (01.09.2013)
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Charge-carrier Transport in 1,4-Bis(phenylethynyl)benzene Derivatives Exhibiting Crystal Mesophases
Yatabe, Tetsuo, Okumoto, Hajime, Kawanishi, Yuji, Inoue, Takahito
Published in Chemistry letters (05.07.2013)
Published in Chemistry letters (05.07.2013)
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Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B
Fujita, Takako, Ihara, Yukiko, Hayashi, Hitomi, Ishii, Atsushi, Ideguchi, Hiroshi, Inoue, Takahito, Imaizumi, Taichi, Yamamoto, Toshiyuki, Hirose, Shinichi
Published in Congenital anomalies (01.11.2020)
Published in Congenital anomalies (01.11.2020)
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Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia
Inoue, Shinkai, Ishii, Atsushi, Shirotani, Goro, Tsutsumi, Makoto, Ohta, Eiji, Nakamura, Masatoshi, Mori, Toshiko, Inoue, Takahito, Nishimura, Gen, Ogawa, Atsushi, Hirose, Shinichi
Published in Pediatrics international (01.08.2014)
Published in Pediatrics international (01.08.2014)
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Nectin-1 spots regulate the branching of olfactory mitral cell dendrites
Fujiwara, Takeshi, Inoue, Takahito, Maruo, Tomohiko, Rikitake, Yoshiyuki, Ieki, Nao, Mandai, Kenji, Kimura, Kazushi, Kayahara, Tetsuro, Wang, Shujie, Itoh, Yu, Sai, Kousyoku, Mori, Masahiro, Mori, Kensaku, Takai, Yoshimi, Mizoguchi, Akira
Published in Molecular and cellular neuroscience (01.09.2015)
Published in Molecular and cellular neuroscience (01.09.2015)
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Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy
Inoue, Takahito, Ihara, Yukiko, Tomonoh, Yuko, Nakamura, Noriko, Ninomiya, Shinya, Fujita, Takako, Ideguchi, Hiroshi, Yasumoto, Sawa, Zhang, Bo, Hirose, Shinichi
Published in Brain & development (Tokyo. 1979) (01.08.2014)
Published in Brain & development (Tokyo. 1979) (01.08.2014)
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