| 1 | COXPD14, FARS2
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| Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
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| Raviglione F, Conte G, Ghezzi D, Parazzini C, Righini A, Vergaro R, Legati A, Spaccini L, Gasperini S, Garavaglia B, Mastrangelo M.
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| Am J Med Genet A 170(11):3004-3007. doi: 10.1002/ajmg.a.37836. Epub 2016 Aug 23.
2016
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| 2 | COXPD14, FARS2
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| Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
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| Vernon HJ, McClellan R, Batista DA, Naidu S.
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| Am J Med Genet A 167A(5):1147-51. doi: 10.1002/ajmg.a.36993. Epub 2015 Apr 6.
2015
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| 3 | COXPD14, FARS2
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| Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
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| Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM.
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| Biochim Biophys Acta 1842(1):56-64. doi: 10.1016/j.bbadis.2013.10.008. Epub 2013 Oct 24.
2014
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| 4 | COXPD14, FARS2
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| Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
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| Elo JM, Yadavalli SS, Euro L, Isohanni P, Götz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A.
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| Hum Mol Genet 21(20):4521-9. Epub 2012 Jul 23.
2012
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