Masaru Shimura

Head Physician

Chiba University Hospital

Japan

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About

Masaru Shimura is the Head Physician at Chiba Children's Hospital in Japan. His research focuses on mitochondrial diseases, particularly in the areas of genetic testing, molecular diagnosis, and clinical features of various mitochondrial disorders. He has authored several recent articles exploring novel genetic variants associated with conditions such as hepatocerebral mitochondrial DNA depletion syndrome and mitochondrial complex I deficiency.

Articles (8)

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2025

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2023

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2022

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2021

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2021

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2021

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JAPAN

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Ayumu Sugiura

Juntendo University

JAPAN

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Masaru Shimura

Research Interests

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Articles (8)

Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome

Strategic validation of variants of uncertain significance inECHS1genetic testing

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2

Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy

Hepcidin Levels and Pathological Characteristics in Children with Fatty Liver Disease

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

Collaborators (6)

Shinichi HIROSE

Akira Ohtake

Yoshihito Kishita

Yasushi Okazaki

Noriko Ichino

Ayumu Sugiura

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