Nakamura Sadao

写真a

Title

Assistant Professor
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Current Affiliation Organization 【 display / non-display 】

  • Duty   University of the Ryukyus   Graduate School of Medicine   Assistant Professor  

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Published Papers 【 display / non-display 】

  • A case of meningitis treated with intraventricular vancomycin in an infant

    Uezato Y, Uehara W, Kurokawa S, Nishiyama N, Nakamura S, Nakamatsu M, Nakanishi K, Yamamoto K, Shiohira H, Nakamura K

    The Journal of Infection and Chemotherapy     2025 [ Peer Review Accepted ]

    Type of publication: Research paper (scientific journal)

  • Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants.

    Nakamura S, Chinen Y, Minema H, Honda R, Ono T, Mizuguchi T, Matsumoto N, Nakanishi K.

    European Journal of Medical Genetics     2025 [ Peer Review Accepted ]

    Type of publication: Research paper (scientific journal)

  • Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series

    Sasaki M, Okanishi T, Matsuoka T, Yoshimura A, Maruyama S, Shiohama T, Hoshino H, Mori T, Majima H, Matsumoto H, Kobayashi S, Chiyonobu T, Matsushige T, Nakamura K, Kubota K, Tanaka R, Fujita T, Enoki H, Suzuki Y, Nakamura S, Fujimoto A, Maegaki Y

    Pediatric Neurology     2024 [ Peer Review Accepted ]

    Type of publication: Research paper (scientific journal)

  • RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

    Mariko Okubo, Satoru Noguchi, Sadao Nakamura, Azusa Oshiro ·Ichizo Nishino

    Human Genetics     2023 [ Peer Review Accepted ]

    Type of publication: Research paper (scientific journal)

  • A severe case of status dystonicus caused by a de novo KMT2B missense mutation.

    Sadao Nakamura, Yasutsugu Chinen, Kazuhito Satou, Takashi Tokashiki, Satoko Kumada, Kumiko Yanagi, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi.

    The European Journal of Medical Genetics     2020 [ Peer Review Accepted ]

    Type of publication: Research paper (scientific journal)

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