Junpei Tanigawa

Osaka, Japan

Last Updated: 09/26/2026

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Found 12 publications

Clinical validation of CD16b as a standardized biomarker for inherited GPI deficiencies.

Clinical validation of CD16b as a standardized biomarker for inherited GPI deficiencies.

Journal: Brain & development

Published: October 21, 2025

Epilepsy with myoclonic absence presenting with unilateral jerks: A case of 2q13 microdeletion syndrome.

Epilepsy with myoclonic absence presenting with unilateral jerks: A case of 2q13 microdeletion syndrome.

Journal: Seizure

Published: November 18, 2022

Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.

Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.

Journal: Journal of the neurological sciences

Published: August 28, 2022

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

Journal: American journal of human genetics

Published: March 04, 2022

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

Journal: American journal of human genetics

Published: November 26, 2020

High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency.

High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency.

Journal: Brain & development

Published: October 29, 2020

Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1.

Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1.

Journal: Journal of the Endocrine Society

Published: December 04, 2019

Abnormal cortical activation during silent reading in adolescents with autism spectrum disorder.

Abnormal cortical activation during silent reading in adolescents with autism spectrum disorder.

Journal: Brain & development

Published: May 27, 2018

Abnormal cortical activation during an auditory word comprehension task in benign childhood epilepsy with centrotemporal spikes: A magnetoencephalographic study.

Abnormal cortical activation during an auditory word comprehension task in benign childhood epilepsy with centrotemporal spikes: A magnetoencephalographic study.

Journal: Epilepsy & behavior : E&B

Published: April 04, 2018

Atypical auditory language processing in adolescents with autism spectrum disorder.

Atypical auditory language processing in adolescents with autism spectrum disorder.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: November 24, 2017

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

Journal: Human mutation

Published: January 11, 2017

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

Journal: Brain & development

Published: November 07, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026