Akira Onuma
Sendai, Japan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Journal: The Tohoku journal of experimental medicine
Published: March 24, 2022
A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.
Journal: Brain & development
Published: November 05, 2020
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Journal: Annals of clinical and translational neurology
Published: November 27, 2017
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
Journal: Journal of human genetics
Published: October 13, 2016
The lack of antiepileptic drugs and worsening of seizures among physically handicapped patients with epilepsy during the Great East Japan Earthquake.
Journal: Brain & development
Published: January 25, 2015
The neurological outcomes of cerebellar injury in premature infants.
Journal: Brain & development
Published: May 05, 2014
Reduction in glutamine/glutamate levels in the cerebral cortex after adrenocorticotropic hormone therapy in patients with west syndrome.
Journal: The Tohoku journal of experimental medicine
Published: April 08, 2014
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.
Journal: Pediatric neurology
Published: November 21, 2013
Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia.
Journal: Developmental medicine and child neurology
Published: November 06, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026