Kaori Aiba

<i>De novo</i> variants in <i><scp>CAMK</scp>2A</i> and <i><scp>CAMK</scp>2B</i> cause neurodevelopmental disorders

Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato et al. · Annals of Clinical and Translational Neurology · 2018 · 85 citations · Full text

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

Kenichiro Yamada, Kaori Aiba, Yasuyuki Kitaura et al. · Journal of Medical Genetics · 2015 · 72 citations

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 67 citations · Full text

Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia

Keiko Shimojima, Akihisa Okumura, Jun Natsume et al. · Brain and Development · 2011 · 30 citations

Mendelian Disorder, Genetic Disorder, Spinocerebellar Ataxias +8

Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications

Shinsaku Yoshitomi, Yukitoshi Takahashi, Mamiko Ishizuka et al. · Brain and Development · 2015 · 11 citations

Neurobiology Of Disease, Neurophysiology, Pediatrics +6