López-Gallardo E - Search Results

1

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Mitochondrion. 2016 May;28:73-8. doi: 10.1016/j.mito.2016.04.001. Epub 2016 Apr 11. Mitochondrion. 2016. PMID: 27079373 Review.

2

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

3

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.

4

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

5

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

6

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

7

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

8

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups.

Gómez-Durán A, Pacheu-Grau D, López-Gallardo E, Díez-Sánchez C, Montoya J, López-Pérez MJ, Ruiz-Pesini E. Gómez-Durán A, et al. Hum Mol Genet. 2010 Sep 1;19(17):3343-53. doi: 10.1093/hmg/ddq246. Epub 2010 Jun 21. Hum Mol Genet. 2010. PMID: 20566709

9

Maternally inherited susceptibility to cancer.

Bayona-Bafaluy MP, López-Gallardo E, Montoya J, Ruiz-Pesini E. Bayona-Bafaluy MP, et al. Biochim Biophys Acta. 2011 Jun;1807(6):643-9. doi: 10.1016/j.bbabio.2010.08.004. Epub 2010 Aug 21. Biochim Biophys Acta. 2011. PMID: 20732295 Free article. Review.

10

OXPHOS toxicogenomics and Parkinson's disease.

López-Gallardo E, Iceta R, Iglesias E, Montoya J, Ruiz-Pesini E. López-Gallardo E, et al. Mutat Res. 2011 Nov-Dec;728(3):98-106. doi: 10.1016/j.mrrev.2011.06.004. Epub 2011 Jul 8. Mutat Res. 2011. PMID: 21763451 Review.

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