Shoko Komatsuzaki

Jena, TH 07743, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 13 publications

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Journal: Human mutation

Published: October 26, 2025

Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia.

Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia.

Journal: Genes

Published: October 17, 2022

Associations of common genetic risk variants of the muscarinic acetylcholine receptor M2 with cardiac autonomic dysfunction in patients with schizophrenia.

Associations of common genetic risk variants of the muscarinic acetylcholine receptor M2 with cardiac autonomic dysfunction in patients with schizophrenia.

Journal: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry

Published: February 17, 2022

A common variation in HCN1 is associated with heart rate variability in schizophrenia.

A common variation in HCN1 is associated with heart rate variability in schizophrenia.

Journal: Schizophrenia research

Published: March 17, 2020

Quantitative retrospective natural history modeling for orphan drug development.

Quantitative retrospective natural history modeling for orphan drug development.

Journal: Journal of inherited metabolic disease

Published: February 17, 2020

Livedoid vasculopathy: does hyperhomocysteinaemia play an aetiological role?

Livedoid vasculopathy: does hyperhomocysteinaemia play an aetiological role?

Journal: European journal of dermatology : EJD

Published: August 08, 2019

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 12, 2018

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

Journal: PLoS genetics

Published: August 20, 2018

Impairment of astrocytic glutaminolysis in glutaric aciduria type I.

Impairment of astrocytic glutaminolysis in glutaric aciduria type I.

Journal: Journal of inherited metabolic disease

Published: April 06, 2017

First Japanese case of Zellweger syndrome with a mutation in PEX14.

First Japanese case of Zellweger syndrome with a mutation in PEX14.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: February 08, 2015

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.

Journal: Biochimica et biophysica acta

Published: October 16, 2014

Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophy.

Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophy.

Journal: Neurology

Published: August 15, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026