Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy

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 angiopathy in cerebral blood vessels of mitochondrial eneephalomyopathy

Eisaku Ohama, S. Ohara, Fusahiro Ikuta et al. · Acta Neuropathologica · 1987 · 296 citations

Life Sciences, Neurology, Neuroscience +14

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

A. Bardosi, W. Creutzfeldt, S. DiMauro et al. · Acta Neuropathologica · 1987 · 175 citations

Life Sciences, Neurology, Neuroscience +10

Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo‐obstruction: <i>POLIP</i> syndrome

Lynn T. Simon, Dikran S. Horoupian, Leslie J. Dorfman et al. · Annals of Neurology · 1990 · 98 citations

Medicine, Neurology, Neuroscience +17

Oculogastrointestinal muscular dystrophy

Victor Ionâşescu, John M. Opitz · American Journal of Medical Genetics · 1983 · 44 citations

Medicine, Neurology, Ophthalmology +15