MELAS: A nationwide prospective cohort study of 96 patients in Japan

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

Yu‐ichi Goto, Ikuya Nonaka, Satoshi Horai · Nature · 1990 · 2.1K citations

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Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

Steven G. Pavlakis, Peter C. Phillips∥, Salvatore DiMauro et al. · Annals of Neurology · 1984 · 1.2K citations

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Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

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Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer, Robert McFarland, Emma L. Blakely et al. · Annals of Neurology · 2007 · 582 citations

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Minimum birth prevalence of mitochondrial respiratory chain disorders in children

Daniela Skladal · Brain · 2003 · 492 citations · Full text

Public Health, Child Health, Pediatrics +14