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Human Mitochondrial DNA: Particularities and Diseases.
Habbane M, Montoya J, Rhouda T, Sbaoui Y, Radallah D, Emperador S. Habbane M, et al. Among authors: montoya j. Biomedicines. 2021 Oct 1;9(10):1364. doi: 10.3390/biomedicines9101364. Biomedicines. 2021. PMID: 34680481 Free PMC article. Review.
[Pearson syndrome. Case report].
Cammarata-Scalisi F, López-Gallardo E, Emperador S, Ruiz-Pesini E, Da Silva G, Camacho N, Montoya J. Cammarata-Scalisi F, et al. Among authors: montoya j. Invest Clin. 2011 Sep;52(3):261-7. Invest Clin. 2011. PMID: 21950197 Spanish.
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
del Mar O'Callaghan M, Emperador S, López-Gallardo E, Jou C, Buján N, Montero R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch R, Montoya J. del Mar O'Callaghan M, et al. Among authors: montoya j. Neurogenetics. 2012 Aug;13(3):245-50. doi: 10.1007/s10048-012-0322-0. Epub 2012 May 26. Neurogenetics. 2012. PMID: 22638997
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: montoya j. 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: montoya j. 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
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R. Quijada-Fraile P, et al. Among authors: montoya j. Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2. Orphanet J Rare Dis. 2014. PMID: 25539952 Free PMC article.
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: montoya j. Front Genet. 2015 Jan 14;5:469. doi: 10.3389/fgene.2014.00469. eCollection 2014. Front Genet. 2015. PMID: 25642242 Free PMC article.
Mutation loads in different tissues from six pathogenic mtDNA point mutations.
O'Callaghan MM, Emperador S, Pineda M, López-Gallardo E, Montero R, Yubero D, Jou C, Jimenez-Mallebrera C, Nascimento A, Ferrer I, García-Cazorla A, Ruiz-Pesini E, Montoya J, Artuch R. O'Callaghan MM, et al. Among authors: montoya j. Mitochondrion. 2015 May;22:17-22. doi: 10.1016/j.mito.2015.03.001. Epub 2015 Mar 10. Mitochondrion. 2015. PMID: 25765153
943 results