Concepedia

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

Akira Sudo, Shiho Honzawa, Ikuya Nonaka, Yu‐ichi Goto

Journal of Human Genetics · 2004 · 68 citations · 33 references

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33

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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SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

Denis Leigh · Journal of Neurology Neurosurgery & Psychiatry · 1951 · 788 citations · Full text

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Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S. Rahman, Rozanne B. Blok, H H Dahl et al. · Annals of Neurology · 1996 · 780 citations

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Zhiqing Zhu, Jianbo Yao, Timothy Johns et al. · Nature Genetics · 1998 · 625 citations

, , +5

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo et al. · The American Journal of Human Genetics · 1998 · 529 citations · Full text

, , +8