Shinji Masuko

机构：Shinshu University

发表论文 3 篇 · 总被引 3 次 · h-index 1

代表论文

• A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis (2024 · Molecular Genetics & Genomic Medicine · 被引 3)
• Internal carotid and vertebrobasilar artery dolichoectasia in patients with cerebral small vessel disease and COL4A1/COL4A2 duplication (2026 · Neurogenetics)
• Reduction of amyloid deposition by patisiran －Evaluation by gastroduodenal biopsy and amyloid 11C-Pittsburgh compound B PET PC117 (#228) (2024)