鹿児島大学 · 医歯学総合研究科

研究关键词inherited peripheral neuropathy・Charcot-Marie-Tooth disease・SACS・INF2・MFN2・CGG repeat expansion・metagenomic encephalitis diagnosis・mitochondrial disease

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• INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights2025
• Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.2025
• Brain biopsy and metagenomic sequencing enhance aetiological diagnosis of encephalitis.2025
• Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.2025

• 遺伝性ニューロパチーの新規ターゲットパネル解析システムの構築2022

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