Reiko Koichihara

A family of distal arthrogryposis type 5 due to a novel <i>PIEZO2</i> mutation

Mariko Okubo, Atsushi Fujita, Yoshiaki Saito et al. · American Journal of Medical Genetics Part A · 2015 · 43 citations

Medicine, Genetics, Molecular Genetics +15

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini et al. · The American Journal of Human Genetics · 2023 · 43 citations · Full text

Life Sciences, Neurobiology, Neuroscience +16

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease

Toshitaka Kawarai, Ryosuke Miyamoto, Eiji Nakagawa et al. · Parkinsonism & Related Disorders · 2018 · 40 citations

Life Sciences, Genetics, Molecular Genetics +12

Posterior Reversible Encephalopathy Syndrome Associated With IVIG in a Patient With Guillain-Barré Syndrome

Reiko Koichihara, Shin‐ichiro Hamano, Shintaro Yamashita et al. · Pediatric Neurology · 2008 · 28 citations

Life Sciences, Neurology, Neuroscience +4

Efficacy and serum concentrations of perampanel for treatment of drug-resistant epilepsy in children, adolescents, and young adults: comparison of patients younger and older than 12 years

Satoru Ikemoto, Shin‐ichiro Hamano, Yuko Hirata et al. · Seizure · 2019 · 19 citations

Medicine, Pediatrics, Pharmacology +15