Martí R - 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. Pediatr Res. 2010 Aug;68(2):151-4. doi: 10.1203/PDR.0b013e3181e33bbe. Pediatr Res. 2010. PMID: 20421844

2

Phenotypic variability in a Spanish family with MNGIE.

Gamez J, Ferreiro C, Accarino ML, Guarner L, Tadesse S, Martí RA, Andreu AL, Raguer N, Cervera C, Hirano M. Gamez J, et al. Among authors: marti ra. Neurology. 2002 Aug 13;59(3):455-7. doi: 10.1212/wnl.59.3.455. Neurology. 2002. PMID: 12177387

3

A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome.

Mancuso M, Vives-Bauza C, Filosto M, Marti R, Solano A, Montoya J, Gamez J, DiMauro S, Andreu AL. Mancuso M, et al. Among authors: marti r. J Med Genet. 2004 Jun;41(6):e73. doi: 10.1136/jmg.2003.012278. J Med Genet. 2004. PMID: 15173239 Free PMC article. No abstract available.

4

Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.

Martín MA, Blázquez A, Martí R, Bautista J, Lara MC, Cabello A, Campos Y, Belda O, Andreu AL, Arenas J. Martín MA, et al. Among authors: marti r. Neurology. 2004 Oct 26;63(8):1536-7. doi: 10.1212/01.wnl.0000141857.37073.97. Neurology. 2004. PMID: 15505189 No abstract available.

5

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

Gamez J, Lara MC, Mearin F, Oliveras-Ley C, Raguer N, Olive M, Leist AT, Perello A, Perona M, Cervera C, Andreu AL, Martí R, Hirano M. Gamez J, et al. Among authors: marti r. J Neurol Sci. 2005 Jan 15;228(1):35-9. doi: 10.1016/j.jns.2004.09.034. Epub 2004 Nov 12. J Neurol Sci. 2005. PMID: 15607208

6

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.

Blazquez A, Martín MA, Lara MC, Martí R, Campos Y, Cabello A, Garesse R, Bautista J, Andreu AL, Arenas J. Blazquez A, et al. Among authors: marti r. Neuromuscul Disord. 2005 Nov;15(11):775-8. doi: 10.1016/j.nmd.2005.07.008. Epub 2005 Sep 28. Neuromuscul Disord. 2005. PMID: 16198108

7

Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA.

Gonzalo R, Garcia-Arumi E, Llige D, Marti R, Solano A, Montoya J, Arenas J, Andreu AL. Gonzalo R, et al. Among authors: marti r. FEBS Lett. 2005 Dec 19;579(30):6909-13. doi: 10.1016/j.febslet.2005.11.034. Epub 2005 Dec 1. FEBS Lett. 2005. PMID: 16337195 Free article.

8

Infusion of platelets transiently reduces nucleoside overload in MNGIE.

Lara MC, Weiss B, Illa I, Madoz P, Massuet L, Andreu AL, Valentino ML, Anikster Y, Hirano M, Martí R. Lara MC, et al. Among authors: marti r. Neurology. 2006 Oct 24;67(8):1461-3. doi: 10.1212/01.wnl.0000239824.95411.52. Epub 2006 Sep 13. Neurology. 2006. PMID: 16971699

9

Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.

Carod-Artal FJ, Herrero MD, Lara MC, López-Gallardo E, Ruiz-Pesini E, Martí R, Montoya J. Carod-Artal FJ, et al. Among authors: marti r. Eur J Neurol. 2007 May;14(5):581-5. doi: 10.1111/j.1468-1331.2007.01720.x. Eur J Neurol. 2007. PMID: 17437622

10

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.

Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R. Lara MC, et al. Among authors: marti r. Biosci Rep. 2007 Jun;27(1-3):151-63. doi: 10.1007/s10540-007-9043-2. Biosci Rep. 2007. PMID: 17549623 Review.

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