Keiko Ichimoto

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita et al. · PLoS Genetics · 2016 · 305 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Erika Ogawa, Masaru Shimura, Takuya Fushimi et al. · Journal of Inherited Metabolic Disease · 2017 · 99 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome

Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda et al. · Neurogenetics · 2019 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

Erika Ogawa, Takuya Fushimi, Minako Ogawa‐Tominaga et al. · Journal of Inherited Metabolic Disease · 2020 · 55 citations · Full text

Life Sciences, Genetics, Pediatrics +10

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

Masaru Shimura, Naomi Kuranobu, Minako Ogawa‐Tominaga et al. · Orphanet Journal of Rare Diseases · 2020 · 46 citations · Full text

Medicine, Genetics, Molecular Genetics +17