MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study

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

Life Sciences, Genetics, Molecular Genetics +11

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

Life Sciences, Neurology, Neuroscience +17

A SEX-LINKED RECESSIVE DISORDER WITH RETARDATION OF GROWTH, PECULIAR HAIR, AND FOCAL CEREBRAL AND CEREBELLAR DEGENERATION

John H. Menkes, Milton Alter, Gerd Klaus Steigleder et al. · PEDIATRICS · 1962 · 859 citations

Life Sciences, Genetics, Neurology +17

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)

Yu‐ichi Goto, Satoshi Horai, T. Matsuoka et al. · Neurology · 1992 · 396 citations

Life Sciences, Genetics, Molecular Genetics +17

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

Yu‐ichi Goto, Ikuya Nonaka, Satoshi Horai · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1991 · 327 citations

Life Sciences, Genetics, Molecular Genetics +17