Kazuhiro R. Nitta
Hongo, 1138421, Japan
Last Updated: 09/26/2026
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Found 21 publications
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
Journal: NPJ genomic medicine
Published: March 19, 2024
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
Journal: Journal of human genetics
Published: February 26, 2023
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Journal: Journal of medical genetics
Published: November 01, 2022
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.
Journal: Molecular genetics and metabolism reports
Published: June 04, 2022
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease.
Journal: Journal of inherited metabolic disease
Published: May 26, 2022
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Journal: Mitochondrion
Published: August 17, 2021
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.
Journal: Human mutation
Published: March 02, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Journal: Med (New York, N.Y.)
Published: February 12, 2021
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Journal: International journal of cardiology
Published: February 03, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Journal: Archives of disease in childhood. Fetal and neonatal edition
Published: January 14, 2021
Last Updated: 09/26/2026