Masafumi Morimoto

Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.

Journal: Journal of human genetics

Published: December 25, 2024

Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type-A.

Journal: Journal of inherited metabolic disease

Published: May 31, 2024

New Year's greetings.

Journal: Brain & development

Published: December 06, 2023

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

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

Published: May 10, 2022

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.

Journal: Scientific reports

Published: December 02, 2021

Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.

Journal: Human molecular genetics

Published: March 08, 2021

Low-grade IVH in preterm infants causes cerebellar damage, motor, and cognitive impairment.

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

Published: July 13, 2020

A novel Drosophila model for neurodevelopmental disorders associated with Shwachman-Diamond syndrome.

Journal: Neuroscience letters

Published: June 25, 2020

Prenatal clinical manifestations in individuals with COL4A1/2 variants.

Journal: Journal of medical genetics

Published: February 03, 2020

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.

Journal: Journal of human genetics

Published: June 16, 2019

Gender differences in occurrence of behavioral and emotional problems at the lower grades of elementary school: Association with developmental and behavioral characteristics at 5 years.

Journal: Brain & development

Published: November 28, 2018

Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients.

Journal: PloS one

Published: September 25, 2018

Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.

Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.

Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type-A.

Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type-A.

New Year's greetings.

New Year's greetings.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.

Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.

Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.

Low-grade IVH in preterm infants causes cerebellar damage, motor, and cognitive impairment.

Low-grade IVH in preterm infants causes cerebellar damage, motor, and cognitive impairment.

A novel Drosophila model for neurodevelopmental disorders associated with Shwachman-Diamond syndrome.

A novel Drosophila model for neurodevelopmental disorders associated with Shwachman-Diamond syndrome.

Prenatal clinical manifestations in individuals with COL4A1/2 variants.

Prenatal clinical manifestations in individuals with COL4A1/2 variants.

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.

Gender differences in occurrence of behavioral and emotional problems at the lower grades of elementary school: Association with developmental and behavioral characteristics at 5 years.

Gender differences in occurrence of behavioral and emotional problems at the lower grades of elementary school: Association with developmental and behavioral characteristics at 5 years.

Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients.

Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients.

Gender differences in occurrence of behavioral and emotional problems at the lower grades of elementary school: Association with developmental and behavioral characteristics at 5 years.

Gender differences in occurrence of behavioral and emotional problems at the lower grades of elementary school: Association with developmental and behavioral characteristics at 5 years.