Concepedia

Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Dèlia Yubero, Raquel Montero, Miguel Á. Martín, Julio Montoya, Antònia Ribes, Manuela Grazina, Eva Trevisson, Juan Carlos Rodríguez‐Aguilera, Iain P. Hargreaves, Leonardo Salviati,

Mitochondrion · 2016 · 78 citations · 32 references

DOI

Concepts

References

32

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

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Supercomplex Assembly Determines Electron Flux in the Mitochondrial Electron Transport Chain

Esther Lapuente-Brun, Raquel Moreno‐Loshuertos, Rebeca Acín‐Pérez et al. · Science · 2013 · 821 citations · Full text

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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Klaus Gempel, Haluk Topaloğlu, Beril Talim et al. · Brain · 2007 · 319 citations · Full text

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Mitochondrial disease criteria

Éva Morava, Lambertus P. van den Heuvel, Frans A. Hol et al. · Neurology · 2006 · 277 citations

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Coenzyme Q deficiency and cerebellar ataxia associated with an <i>aprataxin</i> mutation

Catarina M. Quinzii, Andrea G. Kattah, Ali Naini et al. · Neurology · 2005 · 171 citations

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