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The primary aim of my research is to find out the genetic causes of patients with inherited neurological diseases, and, then, to build the fundamental genetic and clinical data of inherited neurological disease in our population.
Recently, we utilized exome sequencing to identify mutations in GNB4 and KCND3 causing CMT and SCA22. We also previously reported the charateristics of CMT, familial ALS, CADASIL, and PKD in our population.

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