Juntendo University · Graduate School of Medicine / Faculty of Medicine

Research keywords神経遺伝学

Research fieldsNeurology

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• Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
• Steroid-Responsive Parkinsonism Caused by Cerebral Amyloid Angiopathy-Related Inflammation.
• African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
• Identification of Disease-Associated Variants by Targeted Gene Panel Resequencing in Parkinson's Disease.

• ロングリードシークエンスを利用した若年発症型パーキンソン病の発症要因の解明
• ロングリードシークエンスを用いた家族性パーキンソン病の診断並びに簡便なスクリーニング方法の開発

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