Concepedia

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

Christophe Verny, Naïg Guegen, Valérie Desquiret‐Dumas, Arnaud Chevrollier, Adriana Prundean, Frédéric Dubas, Julien Cassereau, Marc Ferré, Patrizia Amati‐Bonneau, Dominique Bonneau,

Mitochondrion · 2010 · 89 citations · 32 references

DOI

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References

32

Blue native PAGE

Ilka Wittig, Hans‐Peter Braun, Hermann Schägger · Nature Protocols · 2006 · 1.7K citations

Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

Hermann Schägger · The EMBO Journal · 2000 · 1.3K citations · Full text

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Emery and Rimoin's Principles and Practice of Medical Genetics

C. Geoffrey Woods · Journal of Medical Genetics · 1997 · 714 citations · Full text

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An enhanced MITOMAP with a global mtDNA mutational phylogeny

Eduardo Ruiz‐Pesini, Marie T. Lott, Vincent Procaccio et al. · Nucleic Acids Research · 2006 · 675 citations · Full text

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Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

Antonio Torroni, M. Petrozzi, Leila D'Urbano et al. · PubMed · 1997 · 417 citations

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