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The Journal of Clinical Endocrinology and Metabolism|February 18, 2016
Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus PatientTakeshi Inoue, Nobuyuki Murakami, Tadayuki Ayabe, et al.
Internal Medicine (Tokyo, Japan)|January 5, 2017
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic ChangesMasako Mukai, Eiichiro Nagata, Atsushi Mizuma, et al.
Heliyon|May 21, 2024
Neuronal autoantibodies in the cerebrospinal fluid of 148 patients with schizophrenia and 151 healthy controlsTakako Enokida, Nanako Yoshida, Megumi Tatsumi, et al.
Nephrology (Carlton, Vic.)|November 25, 2025
Mitochondrial Nephropathy With m.5538G>A Mutation Within the tRNA-Trp Region Assessed by Mitochondrial Function Analysis: A Case ReportMari Ikeda, Toshiyuki Imasawa, Takafumi Akanuma, et al.
IBRO Neuroscience Reports|January 17, 2024
Abnormality in GABAergic postsynaptic transmission associated with anxiety in <i>Bronx waltzer</i> mice with an <i>Srrm4</i> mutationYuka Shirakawa, Heng Li, Yuki Inoue, et al.
BMC Neurology|June 20, 2020
Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case reportYuki Yokota, Makoto Hara, Takayoshi Akimoto, et al.
Journal of Child Neurology|July 29, 2008
Progressive leukoencephalopathy associated with aluminum deposits in myelin sheathMasayuki Itoh, Yoshiko Suzuki, Kenji Sugai, et al.
Journal of Human Genetics|July 9, 2010
Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysisShozo Honda, Shin Hayashi, Issei Imoto, et al.
The Journal of Biological Chemistry|December 14, 2011
Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathyMay Christine V Malicdan, Satoru Noguchi, Tomoharu Tokutomi, et al.
Journal of Human Genetics|August 6, 2025
A novel m.14677 T > C variant in mitochondrial tRNA<sup>Glu</sup> gene causes chronic progressive external ophthalmoplegiaNahoko Katayama Ueda, Masakazu Mimaki, Shota Ito, et al.
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