Katsuya Nakamura

机构：Shinshu University, Kyushu Hospital, Shinshu University Hospital, Ōtani University · ORCID：0000-0003-2342-1089

发表论文 178 篇 · 总被引 2312 次 · h-index 26

代表论文

• Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population (2024 · Frontiers in Neuroscience · 被引 8)
• A unique electro-contact-free sensing for illegal drug methamphetamine determination by electrochemiluminescence based on wireless power transmission technology (2024 · Sensors and Actuators B Chemical · 被引 7)
• HTRA1-related cerebral small-vessel disease causes cerebral microbleeds on the brainstem surface (2024 · Journal of the Neurological Sciences · 被引 6)
• Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman (2023 · JIMD Reports · 被引 5)
• Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease (2023 · Molecular Genetics and Metabolism Reports · 被引 4)
• 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)