Yu Katata

Sendai, 9808575, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 22 publications

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

Journal: HGG advances

Published: June 02, 2026

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

Co-Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non-Kinesigenic Dyskinesia.

Co-Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non-Kinesigenic Dyskinesia.

Journal: Case reports in medicine

Published: November 25, 2025

Outcomes of combination therapy with nusinersen, onasemnogene abeparvovec, and risdiplam over 3.5 years in a patient with prenatally diagnosed spinal muscular atrophy type 0: A case report.

Outcomes of combination therapy with nusinersen, onasemnogene abeparvovec, and risdiplam over 3.5 years in a patient with prenatally diagnosed spinal muscular atrophy type 0: A case report.

Journal: Brain & development

Published: October 21, 2025

Progressive Cerebellar Atrophy Associated with a KDM5C Variant.

Progressive Cerebellar Atrophy Associated with a KDM5C Variant.

Journal: JMA journal

Published: September 10, 2025

Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.

Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.

Journal: Clinical genetics

Published: July 01, 2025

Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.

Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.

Journal: Journal of clinical immunology

Published: May 16, 2025

Electrographic Seizures Following Status Epilepticus With Fever in Critically Ill Children.

Electrographic Seizures Following Status Epilepticus With Fever in Critically Ill Children.

Journal: Pediatric neurology

Published: January 20, 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

Long-term clinical observation of patients with heterozygous KIF1A variants.

Long-term clinical observation of patients with heterozygous KIF1A variants.

Journal: American journal of medical genetics. Part A

Published: March 10, 2024

A case of long-term survival of SADDAN treated with growth hormone for marked short stature.

A case of long-term survival of SADDAN treated with growth hormone for marked short stature.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: October 27, 2023

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

Showing 1-12 of 22

Last Updated: 09/26/2026