Yu Hiramatsu

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

Yujiro Higuchi, Ryuta Okunushi, Taichi Hara et al. · Brain · 2018 · 48 citations

Life Sciences, Genetics, Neurology +17

Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with <i>MFN2</i> mutations in a large case study

Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto et al. · Journal of the Peripheral Nervous System · 2017 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical diversity caused by novel IGHMBP2 variants

Jun‐Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura et al. · Journal of Human Genetics · 2017 · 28 citations

Life Sciences, Genetics, Molecular Genetics +11

Clinical phenotypic diversity of<i>NOTCH2NLC</i>-related disease in the largest case series of inherited peripheral neuropathy in Japan

Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan et al. · Journal of Neurology Neurosurgery & Psychiatry · 2023 · 22 citations

Life Sciences, Genetics, Neurology +13

Neuron-specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting

Vuu My Dung, Dang Ngoc Anh Suong, Yuji Okamaoto et al. · Experimental Cell Research · 2018 · 20 citations

Life Sciences, Genetics, Neuroscience +13