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Documenta Ophthalmologica. Advances in Ophthalmology|February 1, 2019
Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndromeKenji Ozawa, Kiyofumi Mochizuki, Yusuke Manabe, et al.Human Genome Variation|April 25, 2019
A novel compound heterozygous variant of <i>ECHS1</i> identified in a Japanese patient with Leigh syndromeShumpei Uchino, Aritoshi Iida, Atsushi Sato, et al.Journal of Human Genetics|February 1, 2003
A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathyMasakazu Mimaki, Akemi Ikota, Aya Sato, et al.Brain and Behavior|February 18, 2021
Nervonic acid level in cerebrospinal fluid is a candidate biomarker for depressive and manic symptoms: A pilot studyYuki Kageyama, Yasuhiko Deguchi, Kotaro Hattori, et al.Mitochondrion|August 27, 2005
A novel mtDNA C11777A mutation in Leigh syndromeHirofumi Komaki, Jun Akanuma, Hideki Iwata, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|November 3, 2018
Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Ken Yasuda, Nagako Murase, Kenji Yoshinaga, et al.Brain & Development|May 10, 2011
Profiles of blood biomarkers in alternating hemiplegia of childhood--increased MMP-9 and decreased substance P indicates its pathophysiologyTakehiko Inui, Yoshiaki Saito, Hiroshi Sakuma, et al.Brain & Development|June 9, 2020
13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvementMasaki Miura, Akihiko Ishiyama, Eiji Nakagawa, et al.Psychiatric Genetics|March 8, 2011
Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech developmentChikako Waga, Nobuhiko Okamoto, Yumiko Ondo, et al.Brain & Development|June 13, 2009
Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiencyShuhei Ide, Masayuki Sasaki, Mitsuhiro Kato, et al.Pageof 20