Juntendo University · Graduate School of Medicine / Faculty of Medicine · 特任助教

Research keywords分子遺伝学・パーキンソン病・神経変性疾患・遺伝子診断・原因遺伝子

Research fields医化学・Neurology・Neuroscience in general

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• Clinical characteristics and pathophysiological properties of newly discovered LRRK2 variants associated with Parkinson's disease.
• Heterozygous HTRA1 mutations with mimicking symptoms of CARASIL in two families.
• CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis
• CSF1R Mutation p. G589R and the Distribution Pattern of Brain Calcification

• パーキンソン病関連遺伝子の網羅的解析による遺伝的リスク因子の解明
• 神経変性疾患におけるCHCHD2遺伝子の関連解明
• 新規alpha-synuclein発現調節modifier遺伝子の同定と機能解明
• 血族婚のあるパーキンソン病における新規原因遺伝子探索

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