Search Results - "Fujii, Katsunori"

Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review by Fujii, Katsunori, Miyashita, Toshiyuki

“…Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is an autosomal dominant neurocutaneous disease characterized by developmental anomalies…”
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Therapeutic regimen of l-arginine for MELAS: 9-year, prospective, multicenter, clinical research by Koga, Yasutoshi, Povalko, Nataliya, Inoue, Eisuke, Nakamura, Hidefumi, Ishii, Akiko, Suzuki, Yasuhiro, Yoneda, Makoto, Kanda, Fumio, Kubota, Masaya, Okada, Hisashi, Fujii, Katsunori

“…Objective To examine the efficacy and safety of the therapeutic regimen using oral and intravenous l -arginine for pediatric and adult patients with…”
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Decreased head circumference at birth associated with maternal tobacco smoke exposure during pregnancy on the Japanese prospective birth cohort study by Shiohama, Tadashi, Hisada, Aya, Yamamoto, Midori, Sakurai, Kenichi, Takatani, Rieko, Fujii, Katsunori, Shimojo, Naoki, Mori, Chisato

“…Maternal tobacco smoke exposure during pregnancy impairs fetal body size, including head circumference (HC) at birth; however, the mechanism still remains…”
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Establishment of a Gorlin syndrome model from induced neural progenitor cells exhibiting constitutive GLI1 expression and high sensitivity to inhibition by smoothened (SMO) by Ikehara, Hajime, Fujii, Katsunori, Miyashita, Toshiyuki, Ikemoto, Yu, Nagamine, Marina, Shimojo, Naoki, Umezawa, Akihiro

“…The hedgehog signaling pathway is a vital factor for embryonic development and stem cell maintenance. Dysregulation of its function results in tumor initiation…”
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Spontaneous spinal cord infarction in a 10‐year‐old Japanese girl by Sawada, Daisuke, Ito, Arisa, Shiohama, Tadashi, Tsukada, Hideki, Fujii, Katsunori

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Two cases of Kleine–Levin syndrome with good responses to lithium treatment at low serum levels by Uchida, Tomoko, Matsuzawa, Daisuke, Sawada, Daisuke, Kanbayashi, Takashi, Fujii, Katsunori

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Utility of high b‐value diffusion‐weighted imaging in hemolytic uremic syndrome by Tonosono, Kohei, Fujii, Katsunori, Hasunuma, Ryuji, Konda, Yutaka, Kobayashi, Hironobu, Kitazawa, Katsuhiko, Honda, Akihito

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COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency by Inoue, Michio, Uchino, Shumpei, Iida, Aritoshi, Noguchi, Satoru, Hayashi, Shinichiro, Takahashi, Tsutomu, Fujii, Katsunori, Komaki, Hirofumi, Takeshita, Eri, Nonaka, Ikuya, Okada, Yukinori, Yoshizawa, Takuya, Van Lommel, Leentje, Schuit, Frans, Goto, Yu‐ichi, Mimaki, Masakazu, Nishino, Ichizo

“…Objective Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain defect that has vast genetic and phenotypic heterogeneity. This…”
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Brain morphological analysis in mice with hyperactivation of the hedgehog signaling pathway by Shiohama, Tadashi, Uchikawa, Hideki, Nitta, Nobuhiro, Takatani, Tomozumi, Matsuda, Shingo, Ortug, Alpen, Takahashi, Emi, Sawada, Daisuke, Shimizu, Eiji, Fujii, Katsunori, Aoki, Ichio, Hamada, Hiromichi

“…Hedgehog signaling is a highly conserved pathway that plays pivotal roles in morphogenesis, tumorigenesis, osteogenesis, and wound healing. Previous…”
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Anterior cingulate cortex involvement in non-paraneoplastic limbic encephalitis by Ibi, Kyosuke, Fujii, Katsunori, Kobayashi, Hironobu, Senda, Masayoshi, Kitazawa, Katsuhiko, Honda, Akihito

“…Non-paraneoplastic limbic encephalitis is characterized by attention deficit, loss of emotion control, and impaired memory. Viral infection can cause acute…”
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Catathrenia in Pitt–Hopkins syndrome associated with 18q interstitial deletion by Motojima, Toshino, Fujii, Katsunori, Ohashi, Hirofumi, Arakawa, Hirokazu

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Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate by Sawada, Daisuke, Naito, Sachiko, Aoyama, Hiromi, Shiohama, Tadashi, Ichikawa, Tomohiko, Imagawa, Eri, Miyake, Noriko, Matsumoto, Naomichi, Fujii, Katsunori

“…Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a hereditary disorder caused by biallelic variants in the EARS2 gene…”
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MicroRNAs profiling in fibroblasts derived from patients with Gorlin syndrome by Shiohama, Tadashi, Fujii, Katsunori, Miyashita, Toshiyuki, Takatani, Tomozumi, Ikehara, Hajime, Uchikawa, Hideki, Motojima, Toshino, Uchida, Tomoko, Shimojo, Naoki

“…Gorlin syndrome (GS) is a hereditary disorder with tumorigenicity, caused by constitutive hyperactivity of hedgehog signaling. Smoothened (SMO) antagonists…”
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Specific temperament in patients with nevoid basal cell carcinoma syndrome by Uchikawa, Hideki, Fujii, Katsunori, Shiohama, Tadashi, Nakazato, Michiko, Shimizu, Eiji, Miyashita, Toshiyuki, Shimojo, Naoki

“…Background Nevoid basal cell carcinoma syndrome (NBCCS) is a neurocutaneous disease, characterized by tumorigenesis and developmental anomalies due to aberrant…”
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Longitudinal magnetic resonance imaging changes in Japanese encephalitis by Arahata, Yukie, Fujii, Katsunori, Nishimura, Tatsuya, Uchida, Tomoko, Kitazawa, Katsuhiko, Honda, Akihito

“…Japanese encephalitis is a flavivirus that can cause pandemic encephalitis, and is prevalent in Southeast Asia and Australia. Brain images of patients with…”
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Periodical utilization of dental services is an effective breakthrough for declining masticatory performance : the Suita study by Fujii, Katsunori, Kosaka, Takayuki, Hasegawa, Yoko, Kida, Momoyo, Hashimoto, Sakae, Fushida, Shuri, Nokubi, Takashi, Kokubo, Yoshihiro, Watanabe, Makoto, Higashiyama, Aya, Miyamoto, Yoshihiro, Ikebe, Kazunori, Ono, Takahiro

“…[Abstract] Masticatory performance of subjects from a general urban population was examined by measurement at baseline and again at follow-up, to clarify…”
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Nationwide survey of childhood Guillain-Barré syndrome, Fisher syndrome, and Bickerstaff brainstem encephalitis in Japan by Fujii, Katsunori, Shiohama, Tadashi, Uchida, Tomoko, Ikehara, Hajime, Fukuhara, Tomoyuki, Sawada, Daisuke, Aoyama, Hiromi, Uchikawa, Hideki, Yoshii, Shoko, Arahata, Yukie, Shimojo, Naoki, Misawa, Sonoko, Kuwabara, Satoshi

“…Guillain-Barré syndrome (GBS), Fisher syndrome (FS), and Bickerstaff brainstem encephalitis (BBE) are immune-mediated neuropathies presenting with symptoms…”
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A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection by Koga, Yasutoshi, Povalko, Nataliya, Inoue, Eisuke, Ishii, Akiko, Fujii, Katsunori, Fujii, Tatsuya, Murayama, Kei, Mogami, Yukiko, Hata, Ikue, Ikawa, Masamichi, Fukami, Kei, Fukumoto, Yoshihiro, Nomura, Masatoshi, Ichikawa, Kazuki, Yoshida, Kaori

“…Mitochondrial diseases (MDs) are occasionally difficult to diagnose. Growth differentiation factor 15 (GDF15) has been reported as a biomarker useful for not…”
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First report on multidrug-resistant non-encapsulated Streptococcus pneumoniae isolated from a patient with pneumonia by Takeuchi, Noriko, Ohkusu, Misako, Hishiki, Haruka, Fujii, Katsunori, Hotta, Megumi, Murata, Shota, Ishiwada, Naruhiko

“…The non-encapsulated Streptococcus pneumoniae (NESp) has emerged and increased in the clinical setting. The majority of NESp strains have been isolated from…”
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Magnetic resonance neurography in diagnosing childhood chronic inflammatory demyelinating polyradiculoneuropathy by Yoshii, Shoko, Shibuya, Kazumoto, Yokota, Hajime, Ikehara, Hajime, Shiohama, Tadashi, Sawada, Daisuke, Kuwabara, Satoshi, Fujii, Katsunori

“…Peripheral nerve imaging is increasingly recognized as a powerful tool to evaluate nerve hypertrophy in chronic inflammatory demyelinating…”
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