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Human Mutation|December 29, 2017
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspectsAyman W El-Hattab, Julia Wang, Hongzheng Dai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
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.
Iscience|September 20, 2019
Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and NeurogenesisMohamed Taha Moutaoufik, Ramy Malty, Shahreen Amin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 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.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|June 21, 2025
Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila ModelYoshiyasu Tongu, Tomoko Kasahara, Tetsuro Matsuhashi, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.
Brain : a Journal of Neurology|April 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signatureFatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, et al.
Plos Genetics|January 8, 2016
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesMasakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Ebiomedicine|March 7, 2018
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant LoadYi Shiau Ng, Nichola Z Lax, Paul Maddison, et al.
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