Publications by authors named "Katherine M Sheldon"

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Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.
Richard G Boles, Holly A Hornung, Alastair E Moody, Thomas B Ortiz, Stacey A Wong, Katherine M Sheldon

Mitochondrion· July 2015

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Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Jeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, Florin Sasarman, Simon Papillon-Cavanagh, Katherine M Sheldon

Hum Mutat· November 2014

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