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International Journal of Cardiology|July 23, 2021
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patientsAtsuko Imai-Okazaki, Ayako Matsunaga, Yukiko Yatsuka, et al.
Pediatric Research|April 24, 2025
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutationsMadori T Osawa, Yasunori Fujita, Kazuki Kagami, et al.
American Journal of Human Genetics|November 3, 2015
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26Yoshihito Kishita, Aleksandra Pajak, Nikhita Ajit Bolar, et al.
Biochemistry and Biophysics Reports|April 13, 2026
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidosesWataru Oboshi, Asami Hirakiyama, Masahiro Miura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2024
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in JapanYasuko Mikami-Saito, Yoichi Wada, Natsuko Arai-Ichinoi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 8, 2019
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysisHiroki Maruyama, Kaori Miyata, Mariko Mikame, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysisHiroki Maruyama, Kaori Miyata, Mariko Mikame, et al.
Brain : a Journal of Neurology|May 3, 2018
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathyYujiro Higuchi, Ryuta Okunushi, Taichi Hara, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Science Advances|April 4, 2025
Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomicsTasneem Qaqorh, Yusuke Takahashi, Kohei Sameshima, et al.
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