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Mitochondrial DNA mutations and human disease

Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2009 · Vol. 1797(2) · pp. 113–128
Helen TuppenEmma L. BlakelyDouglass M. TurnbullRobert W. Taylor
Mitochondrial Function and PathologyMetabolism and Genetic DisordersATP Synthase and ATPases ResearchMitochondrial DNAHuman mitochondrial geneticsMitochondrial diseaseBiologyGeneticsMitochondrionNuclear geneNuclear DNAGenomePoint mutation

MeSH terms

DNA, MitochondrialHumansMutationMitochondrial Diseases

Funding

  • Sparks
  • Muscular Dystrophy UK
Citations
681
FWCI
13.58
field-weighted impact
References
272
Percentile
99%
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Citations per year
References
Leber hereditary optic neuropathy
Journal of Medical Genetics · 2002 · 507 citations
The Role of Mitochondria in Reactive Oxygen Species Metabolism and Signaling
Annals of the New York Academy of Sciences · 2008 · 824 citations
THE MITOCHONDRIAL ELECTRON TRANSPORT AND OXIDATIVE PHOSPHORYLATION SYSTEM
Annual Review of Biochemistry · 1985 · 1,645 citations
Mitochondrial DNA mutations in human disease
Nature Reviews Genetics · 2005 · 1,831 citations
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