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Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Baloh RH, et al. Among authors: salavaggione e. Arch Neurol. 2007 Jul;64(7):998-1000. doi: 10.1001/archneur.64.7.998. Arch Neurol. 2007. PMID: 17620490
Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies.
Zhang B, Chang J, Fu M, Huang J, Kashyap R, Salavaggione E, Jain S, Kulkarni S, Deardorff MA, Uzielli ML, Dorsett D, Beebe DC, Jay PY, Heuckeroth RO, Krantz I, Milbrandt J. Zhang B, et al. Among authors: salavaggione e. PLoS One. 2009;4(5):e5232. doi: 10.1371/journal.pone.0005232. Epub 2009 May 1. PLoS One. 2009. PMID: 19412548 Free PMC article.
Human 3beta-hydroxysteroid dehydrogenase types 1 and 2: Gene sequence variation and functional genomics.
Wang L, Salavaggione E, Pelleymounter L, Eckloff B, Wieben E, Weinshilboum R. Wang L, et al. Among authors: salavaggione e. J Steroid Biochem Mol Biol. 2007 Oct;107(1-2):88-99. doi: 10.1016/j.jsbmb.2007.03.037. Epub 2007 Jun 8. J Steroid Biochem Mol Biol. 2007. PMID: 17689071 Free PMC article.
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