Akiko Tamasaki

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

Aya Narita, Kentarou Shirai, Shinji Itamura et al. · Annals of Clinical and Translational Neurology · 2016 · 212 citations · Full text

An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

Keiko Shimojima, Nobuhiko Okamoto, Akiko Tamasaki et al. · American Journal of Medical Genetics Part A · 2015 · 50 citations

Early predictors of status epilepticus-associated mortality and morbidity in children

Yoshihiro Maegaki, Youichi Kurozawa, Akiko Tamasaki et al. · Brain and Development · 2014 · 36 citations

Early Predictors, Neurology, Pediatrics

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination

Keiko Shimojima, Shino Shimada, Akiko Tamasaki et al. · Brain and Development · 2013 · 26 citations

Somatic Variant, Mendelian Disorder, Genetic Disorder +8

Effects of donepezil and serotonin reuptake inhibitor on acute regression during adolescence in Down syndrome

Akiko Tamasaki, Yoshiaki Saito, Riyo Ueda et al. · Brain and Development · 2015 · 23 citations

Down Syndrome, Acute Regression, Psychiatry +11