Mayumi Matsufuji

Kagoshima, Japan

Last Updated: 09/26/2026

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Found 16 publications

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Journal: iScience

Published: March 02, 2026

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

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

Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.

Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.

Journal: Journal of human genetics

Published: January 22, 2021

Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency.

Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency.

Journal: Brain & development

Published: February 25, 2019

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.

Journal: Brain & development

Published: November 13, 2017

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.

Journal: Brain & development

Published: October 28, 2016

Evaluation of Cognitive Function When Hearing One's Own Name in Patients With Brain Injuries in Early Developmental Stages.

Evaluation of Cognitive Function When Hearing One's Own Name in Patients With Brain Injuries in Early Developmental Stages.

Journal: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society

Published: October 21, 2016

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.

Journal: Clinical genetics

Published: September 12, 2016

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.

Journal: European journal of medical genetics

Published: May 16, 2016

Neuroimaging and neuropathological characteristics of cerebellar injury in extremely low birth weight infants.

Neuroimaging and neuropathological characteristics of cerebellar injury in extremely low birth weight infants.

Journal: Brain & development

Published: March 07, 2016

Phase-locked theta activity evoked in patients with severe motor and intellectual disabilities upon hearing own names.

Phase-locked theta activity evoked in patients with severe motor and intellectual disabilities upon hearing own names.

Journal: Brain & development

Published: April 30, 2014

Showing 1-12 of 16

Last Updated: 09/26/2026