Fujita Health University · Faculty of Medicine / Graduate School of Medicine · 准教授

Research keywordspediatric neurology・Rett syndrome gait analysis・tuberous sclerosis complex・ATP1A3 epilepsy・HHV-6 encephalopathy・GLUT1 deficiency syndrome・Bow hunter syndrome・pediatric stroke

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• A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome.2025 · Human genome variation
• Clinical profiles of tuberous sclerosis complex: A regionally based survey.2025 · Brain & development
• Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis.2022 · European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
• 原因不明の小児急性脳炎脳症患者における髄液中抗神経細胞表面抗原抗体の検索2022 · NEUROINFECTION

• 網羅的遺伝子解析と三次元タンパク構造解析を用いたウエスト症候群の基礎病態解析2019 · 科学研究費助成事業
• 潜因性ウエスト症候群家族内発症例の遺伝子解析研究2013 · 科学研究費助成事業
• 拡散テンソル画像とＰＥＴによるウエスト症候群の潜在病変の検出能と有用性の検討2011 · 科学研究費助成事業

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