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Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Gai X, et al. Among authors: robinson aj. Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993194 Free PMC article.
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A, Reyes A, Nasca A, Invernizzi F, Lamantea E, Tiranti V, Garavaglia B, Lamperti C, Ardissone A, Moroni I, Robinson A, Ghezzi D, Zeviani M. Legati A, et al. Biochim Biophys Acta. 2016 Aug;1857(8):1326-1335. doi: 10.1016/j.bbabio.2016.02.022. Epub 2016 Mar 8. Biochim Biophys Acta. 2016. PMID: 26968897 Free article.
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Mühlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D. Legati A, et al. Among authors: robinson aj. J Med Genet. 2017 Dec;54(12):815-824. doi: 10.1136/jmedgenet-2017-104822. Epub 2017 Oct 27. J Med Genet. 2017. PMID: 29079705 Free PMC article.
SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.
Quadalti C, Brunetti D, Lagutina I, Duchi R, Perota A, Lazzari G, Cerutti R, Di Meo I, Johnson M, Bottani E, Crociara P, Corona C, Grifoni S, Tiranti V, Fernandez-Vizarra E, Robinson AJ, Viscomi C, Casalone C, Zeviani M, Galli C. Quadalti C, et al. Among authors: robinson aj. Biochim Biophys Acta Mol Basis Dis. 2018 Jun;1864(6 Pt A):2131-2142. doi: 10.1016/j.bbadis.2018.03.021. Epub 2018 Mar 28. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29601977 Free PMC article.
Alternative translation initiation augments the human mitochondrial proteome.
Kazak L, Reyes A, Duncan AL, Rorbach J, Wood SR, Brea-Calvo G, Gammage PA, Robinson AJ, Minczuk M, Holt IJ. Kazak L, et al. Among authors: robinson aj. Nucleic Acids Res. 2013 Feb 1;41(4):2354-69. doi: 10.1093/nar/gks1347. Epub 2012 Dec 28. Nucleic Acids Res. 2013. PMID: 23275553 Free PMC article.
381 results