Itaru Toyoshima

Yurihonjo, Japan

Last Updated: 09/26/2026

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Found 16 publications

Intellectual Disability and Microcephaly With Pontine and Cerebellar Hypoplasia in Adults: Severity Spectrum and Diversity of the CASK Gene Aberrations.

Intellectual Disability and Microcephaly With Pontine and Cerebellar Hypoplasia in Adults: Severity Spectrum and Diversity of the CASK Gene Aberrations.

Journal: Cureus

Published: May 27, 2026

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Journal: Journal of neurology

Published: July 05, 2023

Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7.

Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7.

Journal: Cureus

Published: January 05, 2023

Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants.

Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants.

Journal: Molecular syndromology

Published: April 12, 2022

Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.

Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.

Journal: Molecular syndromology

Published: October 14, 2021

Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease.

Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease.

Journal: Case reports in neurology

Published: November 02, 2020

Anti-N-Methyl-D-Aspartate Receptor Encephalitis with Decrease in Blood Flow in Cerebellum.

Anti-N-Methyl-D-Aspartate Receptor Encephalitis with Decrease in Blood Flow in Cerebellum.

Journal: Case reports in neurology

Published: July 21, 2020

The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21.

The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21.

Journal: Case reports in neurology

Published: April 09, 2020

Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification.

Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification.

Journal: Scientific reports

Published: July 29, 2019

Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan.

Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan.

Journal: Internal medicine (Tokyo, Japan)

Published: March 13, 2018

Questionnaire survey on recruitment for Japanese Neurology Society.

Questionnaire survey on recruitment for Japanese Neurology Society.

Journal: Rinsho shinkeigaku = Clinical neurology

Published: November 29, 2016

Survey on genetic counseling and health management for symptomatic and asymptomatic female dystrophinopathy carriers in Japan today.

Survey on genetic counseling and health management for symptomatic and asymptomatic female dystrophinopathy carriers in Japan today.

Journal: Rinsho shinkeigaku = Clinical neurology

Published: May 24, 2016

Showing 1-12 of 16

Last Updated: 09/26/2026