Yasutsugu Chinen

Ginowan, 9012720, Japan

Last Updated: 09/26/2026

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Found 34 publications

Interim analysis of post-marketing surveillance study of intracerebroventricular idursulfase therapy for neuronopathic mucopolysaccharidosis type II: Safety and effectiveness in clinical practice in Japan.

Interim analysis of post-marketing surveillance study of intracerebroventricular idursulfase therapy for neuronopathic mucopolysaccharidosis type II: Safety and effectiveness in clinical practice in Japan.

Journal: Molecular genetics and metabolism

Published: May 08, 2026

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.

Journal: Journal of neurochemistry

Published: July 13, 2025

Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.

Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.

Journal: Molecular genetics and metabolism reports

Published: June 30, 2025

Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants.

Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants.

Journal: European journal of medical genetics

Published: December 22, 2024

Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.

Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.

Journal: Pediatric nephrology (Berlin, Germany)

Published: December 22, 2023

An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report.

An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report.

Journal: Biomedical reports

Published: February 08, 2022

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.

Journal: Human genome variation

Published: January 19, 2022

A severe case of status dystonicus caused by a de novo KMT2B missense mutation.

A severe case of status dystonicus caused by a de novo KMT2B missense mutation.

Journal: European journal of medical genetics

Published: April 09, 2020

Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.

Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.

Journal: Urology case reports

Published: January 20, 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Journal: Journal of human genetics

Published: July 15, 2019

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.

Journal: Human genome variation

Published: May 09, 2019

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.

Journal: Human genome variation

Published: February 16, 2019

Showing 1-12 of 34

Last Updated: 09/26/2026