Andreu AL - Search Results

1

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. Among authors: andreu al. Pediatr Res. 2010 Aug;68(2):151-4. doi: 10.1203/PDR.0b013e3181e33bbe. Pediatr Res. 2010. PMID: 20421844

2

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.

Tanji K, Gamez J, Cervera C, Mearin F, Ortega A, de la Torre J, Montoya J, Andreu AL, DiMauro S, Bonilla E. Tanji K, et al. Among authors: andreu al. Acta Neuropathol. 2003 Jan;105(1):69-75. doi: 10.1007/s00401-002-0604-y. Epub 2002 Sep 7. Acta Neuropathol. 2003. PMID: 12471464

3

De Toni-Debré-Fanconi syndrome due to a palindrome-flanked deletion in mitochondrial DNA.

Solano A, Russo G, Playán A, Parisi M, DiPietro M, Scuderi A, Palumbo M, Renis M, López-Pérez MJ, Andreu AL, Montoya J. Solano A, et al. Among authors: andreu al. Pediatr Nephrol. 2004 Jul;19(7):790-3. doi: 10.1007/s00467-004-1473-5. Epub 2004 May 7. Pediatr Nephrol. 2004. PMID: 15133725

4

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. Among authors: andreu 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

5

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.

Pinós T, Marotta M, Gallardo E, Illa I, Díaz-Manera J, Gonzalez-Vioque E, García-Arumí E, Andreu AL, Martí R. Pinós T, et al. Among authors: andreu al. Mitochondrion. 2011 Jan;11(1):228-33. doi: 10.1016/j.mito.2010.08.008. Epub 2010 Sep 8. Mitochondrion. 2011. PMID: 20813205

6

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.

Nogales-Gadea G, Mormeneo E, García-Consuegra I, Rubio JC, Orozco A, Arenas J, Martín MA, Lucia A, Gómez-Foix AM, Martí R, Andreu AL. Nogales-Gadea G, et al. Among authors: andreu al. PLoS One. 2010 Oct 5;5(10):e13164. doi: 10.1371/journal.pone.0013164. PLoS One. 2010. PMID: 20957198 Free PMC article.

7

Uridine metabolism in HIV-1-infected patients: effect of infection, of antiretroviral therapy and of HIV-1/ART-associated lipodystrophy syndrome.

Domingo P, Torres-Torronteras J, Pomar V, Giralt M, Domingo JC, Gutierrez Mdel M, Gallego-Escuredo JM, Mateo MG, Cano-Soldado P, Fernandez I, Pastor-Anglada M, Vidal F, Villarroya F, Andreu A, Marti R. Domingo P, et al. PLoS One. 2010 Nov 15;5(11):e13896. doi: 10.1371/journal.pone.0013896. PLoS One. 2010. PMID: 21085568 Free PMC article.

8

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort.

Pinós T, Nogales-Gadea G, Ruiz JR, Rodríguez-Romo G, Santiago-Dorrego C, Fiuza-Luces C, Gómez-Gallego F, Cano-Nieto A, Garatachea N, Morán M, Angel Martín M, Arenas J, Andreu AL, Lucia A. Pinós T, et al. Among authors: andreu al. Age (Dordr). 2012 Feb;34(1):227-33. doi: 10.1007/s11357-011-9209-5. Epub 2011 Jan 28. Age (Dordr). 2012. PMID: 21274636 Free PMC article.

9

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

González-Vioque E, Torres-Torronteras J, Andreu AL, Martí R. González-Vioque E, et al. Among authors: andreu al. PLoS Genet. 2011 Mar;7(3):e1002035. doi: 10.1371/journal.pgen.1002035. Epub 2011 Mar 31. PLoS Genet. 2011. PMID: 21483760 Free PMC article.

10

'Progress' renders detrimental an ancient mitochondrial DNA genetic variant.

Pacheu-Grau D, Gómez-Durán A, López-Gallardo E, Pinós T, Andreu AL, López-Pérez MJ, Montoya J, Ruiz-Pesini E. Pacheu-Grau D, et al. Among authors: andreu al. Hum Mol Genet. 2011 Nov 1;20(21):4224-31. doi: 10.1093/hmg/ddr350. Epub 2011 Aug 9. Hum Mol Genet. 2011. PMID: 21828074

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

202 results

Search Page

Filters