Shinobu Fukumura

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto et al. · PLoS ONE · 2017 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by <i>MORC2</i> variants in Japan

Masahiro Ando, Yuji Okamoto, Akiko Yoshimura et al. · European Journal of Neurology · 2017 · 40 citations

Life Sciences, Genetics, Molecular Genetics +17

Intravenous infusion of mesenchymal stem cells reduces epileptogenesis in a rat model of status epilepticus

Shinobu Fukumura, Masanori Sasaki, Yuko Kataoka-Sasaki et al. · Epilepsy Research · 2018 · 36 citations

Medicine, Neurology, Neuroscience +14

A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay

Shinobu Fukumura, Takuya Hiraide, Akiyo Yamamoto et al. · Brain and Development · 2021 · 34 citations

Medicine, Molecular Genetics, Neuroscience +12

Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells

Masafumi Yamada, Yuka Okura, Yasuto Suzuki et al. · Gene · 2012 · 32 citations

Life Sciences, Cell Biology, Pathology +12