Akatsuki Kubota

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui et al. · Nature Genetics · 2018 · 323 citations

Medicine, Neuroscience, Neuropathology +3

Cancer association as a risk factor for anti-HMGCR antibody-positive myopathy

Masato Kadoya, Ayumi Hida, Meiko Hashimoto Maeda et al. · Neurology Neuroimmunology & Neuroinflammation · 2016 · 101 citations · Full text

Isolation and characterization of fibronectin-binding proteoglycan carrying both heparan sulfate and dermatan sulfate chains from human placenta.

Mamoru Isemura, N. Sato, Yu Yamaguchi et al. · Journal of Biological Chemistry · 1987 · 90 citations · Full text

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype–phenotype correlations

Akatsuki Kubota, Ayumi Hida, Yaeko Ichikawa et al. · Movement Disorders · 2009 · 71 citations

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

M Melia, Akatsuki Kubota, Saida Ortolano et al. · Brain · 2013 · 70 citations · Full text

Mutant Gene, Mendelian Disorder, Skeletal Muscle +12