Ryuto Maki

机构：National Institute of Genetics, Tokyo Institute of Technology, Yokohama National University, Tokyo Metropolitan University, Niigata University

发表论文 12 篇 · 总被引 87 次 · h-index 4

代表论文

• Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration (2023 · The American Journal of Human Genetics · 被引 45)
• Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in Drosophila using the automated axon quantification system, MeDUsA (2023 · Human Molecular Genetics · 被引 17)
• Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype (2024 · Frontiers in Genetics · 被引 11)
• A novel NONO variant that causes developmental delay and cardiac phenotypes (2023 · Scientific Reports · 被引 11)
• Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy (2023 · eLife · 被引 3)
• Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy (2024 · eLife)