Urbano-Márquez A - Search Results

1

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

Barrientos A, Volpini V, Casademont J, Genís D, Manzanares JM, Ferrer I, Corral J, Cardellach F, Urbano-Márquez A, Estivill X, Nunes V. Barrientos A, et al. J Clin Invest. 1996 Apr 1;97(7):1570-6. doi: 10.1172/JCI118581. J Clin Invest. 1996. PMID: 8601620 Free PMC article.

2

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.

Barrientos A, Casademont J, Saiz A, Cardellach F, Volpini V, Solans A, Tolosa E, Urbano-Marquez A, Estivill X, Nunes V. Barrientos A, et al. Am J Hum Genet. 1996 May;58(5):963-70. Am J Hum Genet. 1996. PMID: 8651280 Free PMC article.

3

Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.

Barrientos A, Casademont J, Genís D, Cardellach F, Fernández-Real JM, Grau JM, Urbano-Márquez A, Estivill X, Nunes V. Barrientos A, et al. Hum Mutat. 1997;10(3):212-6. doi: 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K. Hum Mutat. 1997. PMID: 9298821

4

[Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases].

Barrientos A, Casademont J, Grau JM, Cardellach F, Montoya J, Estivill X, Urbano-Márquez A, Nunes V. Barrientos A, et al. Med Clin (Barc). 1995 Jul 1;105(5):180-4. Med Clin (Barc). 1995. PMID: 7630231 Spanish.

5

The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence.

Barrientos A, Casademont J, Solans A, Moral P, Cardellach F, Urbano-Márquez A, Estivill X, Nunes V. Barrientos A, et al. Hum Genet. 1995 Aug;96(2):225-8. doi: 10.1007/BF00207385. Hum Genet. 1995. PMID: 7635476

6

The effect of zidovudine on skeletal muscle mtDNA in HIV-1 infected patients with mild or no muscle dysfunction.

Casademont J, Barrientos A, Grau JM, Pedrol E, Estivill X, Urbano-Márquez A, Nunes V. Casademont J, et al. Brain. 1996 Aug;119 ( Pt 4):1357-64. doi: 10.1093/brain/119.4.1357. Brain. 1996. PMID: 8813297

7

Absence of relationship between the level of electron transport chain activities and aging in human skeletal muscle.

Barrientos A, Casademont J, Rötig A, Miró O, Urbano-Márquez A, Rustin P, Cardellach F. Barrientos A, et al. Biochem Biophys Res Commun. 1996 Dec 13;229(2):536-9. doi: 10.1006/bbrc.1996.1839. Biochem Biophys Res Commun. 1996. PMID: 8954933

8

Qualitative and quantitative changes in skeletal muscle mtDNA and expression of mitochondrial-encoded genes in the human aging process.

Barrientos A, Casademont J, Cardellach F, Ardite E, Estivill X, Urbano-Márquez A, Fernández-Checa JC, Nunes V. Barrientos A, et al. Biochem Mol Med. 1997 Dec;62(2):165-71. doi: 10.1006/bmme.1997.2647. Biochem Mol Med. 1997. PMID: 9441868

9

Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging.

Barrientos A, Casademont J, Cardellach F, Estivill X, Urbano-Marquez A, Nunes V. Barrientos A, et al. Brain Res Mol Brain Res. 1997 Dec 15;52(2):284-9. doi: 10.1016/s0169-328x(97)00278-7. Brain Res Mol Brain Res. 1997. PMID: 9495550

10

[Secondary mitochondrial diseases].

Cardellach F, Casademont J, Urbano-Márquez A. Cardellach F, et al. Rev Neurol. 1998 Apr;26 Suppl 1:S81-6. Rev Neurol. 1998. PMID: 9810594 Review. Spanish.

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