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2013
Targeted exome sequencing of suspected mitochondrial disorders.Lieber, DS, Calvo SE, Shanahan K., Slate NG, Liu S., Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, and Mootha VK Neurology, 2013/05/07, Volume 80, Issue 19, p.1762-1770, (2013) Read More / View Supplemental Materials
Abstract
2011
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.Tucker, EJ, Hershman SG, Köhrer C., Belcher-Timme CA, Patel J., Goldberger OA, Christodoulou J., Silberstein JM, McKenzie M., Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, and Mootha VK Cell metabolism, 2011/09/07, Volume 14, Issue 3, p.428-34, (2011) Read More / View Supplemental Materials
Abstract
2008
A mitochondrial protein compendium elucidates complex I disease biology.Pagliarini, DJ, Calvo SE, Chang B., Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C., Boneh A., Chen WK, Hill DE, Vidal M., Evans JG, Thorburn DR, Carr SA, and Mootha VK Cell, 2008/07/11, Volume 134, Issue 1, p.112-23, (2008) Read More / View Supplemental Materials
Abstract
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