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6 results for author:"Ruiz-Pesini E."Drop in Literature Citations

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A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.

Potluri P., Davila A., Ruiz-Pesini E., Mishmar D., O'Hearn S., Hancock S., Simon M., Scheffler I.E., Wallace D.C., Procaccio V.

Mol. Genet. Metab. 96:189-195(2009) · Mapped (2)

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Pello R., Martin M.A., Carelli V., Nijtmans L.G., Achilli A., Pala M., Torroni A., Gomez-Duran A., Ruiz-Pesini E., Martinuzzi A. et al.

Hum. Mol. Genet. 17:4001-4011(2008) · UniProtKB (37)

Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.

Carod-Artal F.J., Herrero M.D., Lara M.C., Lopez-Gallardo E., Ruiz-Pesini E., Marti R., Montoya J.

Eur. J. Neurol. 14:581-585(2007) · Mapped (4)

Adaptive selection of mitochondrial complex I subunits during primate radiation.

Mishmar D., Ruiz-Pesini E., Mondragon-Palomino M., Procaccio V., Gaut B., Wallace D.C.

Gene 378:11-18(2006) · UniProtKB (114)

Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of native american haplogroups.

Starikovskaya E.B., Sukernik R.I., Derbeneva O.A., Volodko N.V., Ruiz-Pesini E., Torroni A., Brown M.D., Lott M.T., Hosseini S.H., Huoponen K. et al.

Ann. Hum. Genet. 69:67-89(2005) · UniProtKB (53)

Natural selection shaped regional mtDNA variation in humans.

Mishmar D., Ruiz-Pesini E., Golik P., Macaulay V., Clark A.G., Hosseini S., Brandon M., Easley K., Chen E., Brown M.D. et al.

Proc. Natl. Acad. Sci. U.S.A. 100:171-176(2003) · UniProtKB (113)

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