Kindai University · Kindai University Hospital · 助教

Research keywordsspinocerebellar ataxia・RAN translation・C9orf72 ALS FTD・G-quadruplex RNA・NOP56 repeat expansion・Parkinson disease camptocormia・paramyotonia congenita・progressive myoclonic epilepsy

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• FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTD
• 脆弱X関連振戦/失調症候群（FXTAS）
• ショウジョウバエモデルを用いた ALSの病態解明と治療法開発
• Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review.

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