López-Gallardo E - Search Results

1

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A. Navarro-Sastre A, et al. Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018. Epub 2012 Aug 31. Mol Genet Metab. 2012. PMID: 22980518

2

Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNA(Lys) point mutations in mitochondrial DNA.

Guallar JP, Vilà MR, López-Gallardo E, Solano A, Domingo JC, Gámez J, Pineda M, Capablo JL, Domingo P, Andreu AL, Montoya J, Giralt M, Villarroya F. Guallar JP, et al. Mol Genet Metab. 2006 Nov;89(3):283-5. doi: 10.1016/j.ymgme.2006.03.001. Epub 2006 Apr 17. Mol Genet Metab. 2006. PMID: 16603396

3

[Deletions of the mitochondrial DNA associated to chronic progressive external ophthalmoplegia with ragged-red fibers in 2 Brazilian patients].

Carod-Artal FJ, López-Gallardo E, Solano A, Dahmani Y, Ruiz-Pesini E, Montoya J. Carod-Artal FJ, et al. Med Clin (Barc). 2006 Apr 1;126(12):457-60. doi: 10.1016/s0025-7753(06)71972-8. Med Clin (Barc). 2006. PMID: 16620733 Spanish.

4

A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).

Herrero-Martín MD, Pineda M, Briones P, López-Gallardo E, Carreras M, Benac M, Angel Idoate M, Vilaseca MA, Artuch R, López-Pérez MJ, Ruiz-Pesini E, Montoya J. Herrero-Martín MD, et al. Hum Mutat. 2008 Aug;29(8):E112-22. doi: 10.1002/humu.20800. Hum Mutat. 2008. PMID: 18484665

5

20 years of human mtDNA pathologic point mutations: carefully reading the pathogenicity criteria.

Montoya J, López-Gallardo E, Díez-Sánchez C, López-Pérez MJ, Ruiz-Pesini E. Montoya J, et al. Biochim Biophys Acta. 2009 May;1787(5):476-83. doi: 10.1016/j.bbabio.2008.09.003. Epub 2008 Sep 18. Biochim Biophys Acta. 2009. PMID: 18840399 Free article. Review.

6

CPEO and KSS differ in the percentage and location of the mtDNA deletion.

López-Gallardo E, López-Pérez MJ, Montoya J, Ruiz-Pesini E. López-Gallardo E, et al. Mitochondrion. 2009 Sep;9(5):314-7. doi: 10.1016/j.mito.2009.04.005. Epub 2009 May 4. Mitochondrion. 2009. PMID: 19410662

7

Diseases of the human mitochondrial oxidative phosphorylation system.

Montoya J, López-Gallardo E, Herrero-Martín MD, Martínez-Romero I, Gómez-Durán A, Pacheu D, Carreras M, Díez-Sánchez C, López-Pérez MJ, Ruiz-Pesini E. Montoya J, et al. Adv Exp Med Biol. 2009;652:47-67. doi: 10.1007/978-90-481-2813-6_5. Adv Exp Med Biol. 2009. PMID: 20225019 Review.

8

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan Mdel M, Quijada P, Martinez-Aragón A, Ormazábal A, Blázquez A, Martín MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch R, Pineda M. Serrano M, et al. Mitochondrion. 2010 Aug;10(5):429-32. doi: 10.1016/j.mito.2010.04.001. Epub 2010 Apr 11. Mitochondrion. 2010. PMID: 20388557

9

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.

Martí R, Nascimento A, Colomer J, Lara MC, López-Gallardo E, Ruiz-Pesini E, Montoya J, Andreu AL, Briones P, Pineda M. Martí R, et al. Pediatr Res. 2010 Aug;68(2):151-4. doi: 10.1203/PDR.0b013e3181e33bbe. Pediatr Res. 2010. PMID: 20421844

10

Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions.

Ascaso FJ, Lopez-Gallardo E, Del Prado E, Ruiz-Pesini E, Montoya J. Ascaso FJ, et al. Clin Exp Ophthalmol. 2010 Nov;38(8):812-6. doi: 10.1111/j.1442-9071.2010.02335.x. Clin Exp Ophthalmol. 2010. PMID: 20497429

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