Concepedia

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

Jürgen‐Christoph von Kleist-Retzow, Elodie Vial, Karine Chantrel-Groussard, Agnès Rötig, Arnold Münnich, Pierre Rustin, Jan‐Willem Taanman

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1999 · 31 citations · 48 references

DOI

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References

48

The Whole Structure of the 13-Subunit Oxidized Cytochrome c Oxidase at 2.8 Å

Tomitake Tsukihara, Hiroshi Aoyama, Eiki Yamashita et al. · Science · 1996 · 2.1K citations

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Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 829 citations · Full text

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Thomas Bourgeron, Pierre Rustin, Dominique Chrétien et al. · Nature Genetics · 1995 · 725 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

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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

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