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Frontiers in Neuroscience|March 16, 2023
Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2Hiroshi Sakuma, Jun-Ichi Takanashi, Kazuhiro Muramatsu, et al.
Molecular Genetics and Metabolism|June 13, 2009
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex IIShunsaku Kaji, Kei Murayama, Ikuo Nagata, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 9, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosisTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
Brain & Development|December 30, 2025
Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individualsChika Watanabe, Akihiko Miyauchi, Shiho Aoki, et al.
Annals of Clinical and Translational Neurology|October 31, 2014
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disordersNatsumi Uehara, Masato Mori, Yoshimi Tokuzawa, et al.
Molecular Genetics and Metabolism Reports|October 20, 2021
Valine metabolites analysis in ECHS1 deficiencyMari Kuwajima, Karin Kojima, Hitoshi Osaka, et al.
Orphanet Journal of Rare Diseases|July 25, 2020
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantationMasaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, et al.
Journal of Neurology|March 2, 2022
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genesYu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, et al.
Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.
Neurology. Genetics|February 12, 2020
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
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