Minobu Shichiji

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

Keiko Shimojima, Midori Sugawara, Minobu Shichiji et al. · Journal of Human Genetics · 2011 · 82 citations · Full text

Loss-of-function Mutation, Genetic Disorder, Genetics +8

CDKL5 alterations lead to early epileptic encephalopathy in both genders

Jao‐Shwann Liang, Keiko Shimojima, Rumiko Takayama et al. · Epilepsia · 2011 · 69 citations · Full text

Identification of novel <i><scp>SNORD118</scp></i> mutations in seven patients with leukoencephalopathy with brain calcifications and cysts

Kazuhiro Iwama, Takeshi Mizuguchi, Jun‐ichi Takanashi et al. · Clinical Genetics · 2017 · 31 citations

Extensive morphological and immunohistochemical characterization in myotubular myopathy

Minobu Shichiji, Valérie Biancalana, Michel Fardeau et al. · Brain and Behavior · 2013 · 30 citations · Full text

The gross motor function measure is valid for Fukuyama congenital muscular dystrophy

Takatoshi Sato, Michiru Adachi, Kaho Nakamura et al. · Neuromuscular Disorders · 2016 · 28 citations

Muscle Function, Spinal Cord Injury, Musculoskeletal Function +9