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Page 1
New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.
Martínez-Romero Í, Herrero-Martín MD, Llobet L, Emperador S, Martín-Navarro A, Narberhaus B, Ascaso FJ, López-Gallardo E, Montoya J, Ruiz-Pesini E. Martínez-Romero Í, et al. Among authors: martin navarro a. Clin Exp Ophthalmol. 2014 Dec;42(9):856-64. doi: 10.1111/ceo.12355. Epub 2014 May 30. Clin Exp Ophthalmol. 2014. PMID: 24800637
Expanding the clinical phenotypes of MT-ATP6 mutations.
López-Gallardo E, Emperador S, Solano A, Llobet L, Martín-Navarro A, López-Pérez MJ, Briones P, Pineda M, Artuch R, Barraquer E, Jericó I, Ruiz-Pesini E, Montoya J. López-Gallardo E, et al. Among authors: martin navarro a. Hum Mol Genet. 2014 Dec 1;23(23):6191-200. doi: 10.1093/hmg/ddu339. Epub 2014 Jun 30. Hum Mol Genet. 2014. PMID: 24986921
An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations.
Emperador S, Pacheu-Grau D, Bayona-Bafaluy MP, Garrido-Pérez N, Martín-Navarro A, López-Pérez MJ, Montoya J, Ruiz-Pesini E. Emperador S, et al. Among authors: martin navarro a. Front Genet. 2015 Jan 14;5:469. doi: 10.3389/fgene.2014.00469. eCollection 2014. Front Genet. 2015. PMID: 25642242 Free PMC article.
ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.
Lamiquiz-Moneo I, Baila-Rueda L, Bea AM, Mateo-Gallego R, Pérez-Calahorra S, Marco-Benedí V, Martín-Navarro A, Ros E, Cofán M, Rodríguez-Rey JC, Pocovi M, Cenarro A, Civeira F. Lamiquiz-Moneo I, et al. Among authors: martin navarro a. J Clin Lipidol. 2017 Nov-Dec;11(6):1432-1440.e4. doi: 10.1016/j.jacl.2017.09.005. Epub 2017 Oct 4. J Clin Lipidol. 2017. PMID: 29066094