Kindai University · Faculty of Medicine

Research keywordsAtaxia・Parkinson Disease・パーキンソン病・小脳失調・筋萎縮性側索硬化症・遺伝子治療

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• Neurologic findings are the sole manifestations of a patient with cerebrotendinous xanthomatosis.
• Homozygous alpha-synuclein p.A53V in familial Parkinson's disease
• CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy.
• Odor abnormalities caused by bilateral thalamic infarction

• 神経疾患の細胞モデルの構築
• 遺伝性小脳失調原因遺伝子アプラタキシンの野生型及びスプライス変異型蛋白の機能解析
• 神経変性疾患の新規原因蛋白ｐ６２とユビキリン２の関連と治療的蛋白分解亢進
• 神経変性疾患原因蛋白の核内輸送と発症機序解明

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