Shun Kubota

Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS

Haruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi et al. · Journal of Human Genetics · 2020 · 56 citations

Life Sciences, Genetics, Molecular Genetics +11

Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis

Mikiko Tada, Hiroshi Doi, Shigeru Koyano et al. · American Journal Of Pathology · 2017 · 50 citations · Full text

Medicine, Neurology, Neuroscience +13

CCR2 is localized in microglia and neurons, as well as infiltrating monocytes, in the lumbar spinal cord of ALS mice

Hiroyasu Komiya, Hideyuki Takeuchi, Yuki Ogawa et al. · Molecular Brain · 2020 · 40 citations · Full text

Life Sciences, Neurobiology, Neuroscience +16

Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42

Shunta Hashiguchi, Hiroshi Doi, Misako Kunii et al. · Neurobiology of Disease · 2019 · 30 citations · Full text

Life Sciences, Neurology, Neuroscience +15

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations

Hiroshi Doi, Shigeru Koyano, Satoko Miyatake et al. · Journal of Human Genetics · 2018 · 19 citations

Life Sciences, Genetics, Molecular Genetics +13