Yurika Uematsu-Numata

Sendai, Japan

Last Updated: 09/26/2026

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Found 24 publications

Capillary Leak Syndrome and Inflammatory Bowel Diseases-Like Symptoms in Leigh Syndrome.

Capillary Leak Syndrome and Inflammatory Bowel Diseases-Like Symptoms in Leigh Syndrome.

Journal: The Tohoku journal of experimental medicine

Published: December 03, 2025

Epileptic Encephalopathy After Human Herpes Virus 6-Related Post-Transplant Acute Limbic Encephalitis in Children: A Case Report and Review of the Literature.

Epileptic Encephalopathy After Human Herpes Virus 6-Related Post-Transplant Acute Limbic Encephalitis in Children: A Case Report and Review of the Literature.

Journal: Cureus

Published: May 21, 2025

Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous Syndrome.

Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous Syndrome.

Journal: The Tohoku journal of experimental medicine

Published: December 18, 2024

Hypoxia-inducible factor 1α in Schwann cells promotes peripheral nerve myelination.

Hypoxia-inducible factor 1α in Schwann cells promotes peripheral nerve myelination.

Journal: The Journal of biological chemistry

Published: July 09, 2024

Comprehensive study of metabolic changes induced by a ketogenic diet therapy using GC/MS- and LC/MS-based metabolomics.

Comprehensive study of metabolic changes induced by a ketogenic diet therapy using GC/MS- and LC/MS-based metabolomics.

Journal: Seizure

Published: January 29, 2023

A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.

A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.

Journal: American journal of medical genetics. Part A

Published: December 18, 2022

A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.

A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.

Journal: Pediatric neurology

Published: September 01, 2022

Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosis.

Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosis.

Journal: Brain & development

Published: August 12, 2021

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.

Journal: Molecular genetics and metabolism reports

Published: July 27, 2021

The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.

The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.

Journal: American journal of medical genetics. Part A

Published: July 23, 2021

Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation.

Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation.

Journal: Brain & development

Published: July 03, 2021

The Onset of Interictal Spike-Related Ripples Facilitates Detection of the Epileptogenic Zone.

The Onset of Interictal Spike-Related Ripples Facilitates Detection of the Epileptogenic Zone.

Journal: Frontiers in neurology

Published: June 13, 2021

Showing 1-12 of 24

Last Updated: 09/26/2026