Montoya J - Search Results

1

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: montoya j. 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.

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. Among authors: montoya j. 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

Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene.

Vives-Bauza C, Gamez J, Roig M, Briones P, Cervera C, Solano A, Montoya J, Andreu AL. Vives-Bauza C, et al. Among authors: montoya j. Ann Med. 2001 Oct;33(7):493-6. doi: 10.3109/07853890109002099. Ann Med. 2001. PMID: 11680798 Free article.

4

Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA.

Solano A, Gámez J, Carod FJ, Pineda M, Playán A, López-Gallardo E, Andreu AL, Montoya J. Solano A, et al. Among authors: montoya j. J Med Genet. 2003 Jul;40(7):e86. doi: 10.1136/jmg.40.7.e86. J Med Genet. 2003. PMID: 12843335 Free PMC article. No abstract available.

5

Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.

Vives-Bauza C, Del Toro M, Solano A, Montoya J, Andreu AL, Roig M. Vives-Bauza C, et al. Among authors: montoya j. J Inherit Metab Dis. 2003;26(5):507-8. doi: 10.1023/a:1025133629685. J Inherit Metab Dis. 2003. PMID: 14518831

6

NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.

López-Gallardo E, Solano A, Herrero-Martín MD, Martínez-Romero I, Castaño-Pérez MD, Andreu AL, Herrera A, López-Pérez MJ, Ruiz-Pesini E, Montoya J. López-Gallardo E, et al. Among authors: montoya j. J Med Genet. 2009 Jan;46(1):64-7. doi: 10.1136/jmg.2008.060616. J Med Genet. 2009. PMID: 19124644

7

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: montoya j. Acta Neuropathol. 2003 Jan;105(1):69-75. doi: 10.1007/s00401-002-0604-y. Epub 2002 Sep 7. Acta Neuropathol. 2003. PMID: 12471464

8

Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.

Solano A, Roig M, Vives-Bauza C, Hernandez-Peña J, Garcia-Arumi E, Playan A, Lopez-Perez MJ, Andreu AL, Montoya J. Solano A, et al. Among authors: montoya j. Ann Neurol. 2003 Oct;54(4):527-30. doi: 10.1002/ana.10682. Ann Neurol. 2003. PMID: 14520668

9

Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA.

Pineda M, Solano A, Artuch R, Andreu AL, Playan A, Vilaseca MA, Colomer J, Briones P, Casademont J, Montoya J. Pineda M, et al. Among authors: montoya j. Pediatr Res. 2004 Jul;56(1):55-9. doi: 10.1203/01.PDR.0000130475.20571.98. Epub 2004 May 5. Pediatr Res. 2004. PMID: 15128915

10

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA.

Gámez J, Playán A, Andreu AL, Bruno C, Navarro C, Cervera C, Arbós MA, Schwartz S, Enriquez JA, Montoya J. Gámez J, et al. Among authors: montoya j. Neurology. 1998 Jul;51(1):258-60. doi: 10.1212/wnl.51.1.258. Neurology. 1998. PMID: 9674814

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