Garesse R - Search Results

1

Mutation analysis in 16 patients with mtDNA depletion.

Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, Dionisi-Vici C, Vilarinho L, Rizza T, Bertini E, Garesse R, Santorelli FM, Arenas J. Carrozzo R, et al. Among authors: garesse r. Hum Mutat. 2003 Apr;21(4):453-4. doi: 10.1002/humu.9135. Hum Mutat. 2003. PMID: 12655576

2

Mitochondrial gene expression and respiratory enzyme activities in cardiac diseases.

Bornstein B, Huertas R, Ochoa P, Campos Y, Guillen F, Garesse R, Arenas J. Bornstein B, et al. Among authors: garesse r. Biochim Biophys Acta. 1998 Feb 27;1406(1):85-90. doi: 10.1016/s0925-4439(97)00076-8. Biochim Biophys Acta. 1998. PMID: 9545545 Free article.

3

[Human mitochondrial genetic system].

Enríquez JA, Martínez-Azorín F, Garesse R, López-Pérez MJ, Pérez-Martos A, Bornstein B, Montoya J. Enríquez JA, et al. Among authors: garesse r. Rev Neurol. 1998 Apr;26 Suppl 1:S21-6. Rev Neurol. 1998. PMID: 9810587 Review. Spanish.

4

[Studies of pathogenicity and characterization of molecular phenotype caused by mutations in human mitochondrial DNA].

Bornstein B, Enríquez JA, Montoya J, Garesse R. Bornstein B, et al. Among authors: garesse r. Rev Neurol. 1998 Apr;26 Suppl 1:S36-43. Rev Neurol. 1998. PMID: 9810589 Review. Spanish.

5

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.

Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R. Arenas J, et al. Among authors: garesse r. Neurology. 1999 Jan 15;52(2):377-82. doi: 10.1212/wnl.52.2.377. Neurology. 1999. PMID: 9932960

6

The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes.

Fernández-Moreno MA, Bornstein B, Campos Y, Arenas J, Garesse R. Fernández-Moreno MA, et al. Among authors: garesse r. Mol Genet Metab. 2000 Jul;70(3):238-40. doi: 10.1006/mgme.2000.3005. Mol Genet Metab. 2000. PMID: 10924280

7

The pathophysiology of mitochondrial biogenesis: towards four decades of mitochondrial DNA research.

Fernández-Moreno MA, Bornstein B, Petit N, Garesse R. Fernández-Moreno MA, et al. Among authors: garesse r. Mol Genet Metab. 2000 Nov;71(3):481-95. doi: 10.1006/mgme.2000.3083. Mol Genet Metab. 2000. PMID: 11073716 Review.

8

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy.

Campos Y, Gámez J, García A, Andreu AL, Rubio JC, Martín MA, del Hoyo P, Navarro C, Cervera C, Garesse R, Arenas J. Campos Y, et al. Among authors: garesse r. Neuromuscul Disord. 2001 Jul;11(5):477-80. doi: 10.1016/s0960-8966(00)00223-6. Neuromuscul Disord. 2001. PMID: 11404120

9

Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.

Campos Y, García-Redondo A, Fernández-Moreno MA, Martínez-Pardo M, Goda G, Rubio JC, Martín MA, del Hoyo P, Cabello A, Bornstein B, Garesse R, Arenas J. Campos Y, et al. Among authors: garesse r. Ann Neurol. 2001 Sep;50(3):409-13. doi: 10.1002/ana.1141. Ann Neurol. 2001. PMID: 11558799

10

Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family.

de la Peña P, Bornstein B, del Hoyo P, Fernández-Moreno MA, Martín MA, Campos Y, Gómez-Escalonilla C, Molina JA, Cabello A, Arenas J, Garesse R. de la Peña P, et al. Among authors: garesse r. Neurology. 2001 Oct 9;57(7):1235-8. doi: 10.1212/wnl.57.7.1235. Neurology. 2001. PMID: 11591842

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