JOAQUÍN
ARENAS BARBERO
Chercheur jusqu {1}
Rafael
Garesse
Publications dans lesquelles il/elle collabore avec Rafael Garesse (18)
2012
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Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies
Mitochondrion, Vol. 12, Núm. 2, pp. 357-362
2010
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Depleción del ácido desoxirribonucleico mitocondrial y mutaciones de POLG en un paciente con neuropatía sensorial atáxica, disartria y oftalmoplejía
Medicina Clinica, Vol. 135, Núm. 10, pp. 452-455
2008
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OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
Brain, Vol. 131, Núm. 2, pp. 338-351
2007
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Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase
Neuromuscular Disorders, Vol. 17, Núm. 9-10, pp. 677-680
2006
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Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population
Archives of Neurology, Vol. 63, Núm. 1, pp. 107-111
2005
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Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNALys gene
Biochemical Journal, Vol. 387, Núm. 3, pp. 773-778
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Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria
Experimental Dermatology, Vol. 14, Núm. 1, pp. 26-33
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Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE
Neuromuscular Disorders, Vol. 15, Núm. 11, pp. 775-778
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Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene
Archives of Neurology, Vol. 62, Núm. 4, pp. 659-661
2003
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Mutation analysis in 16 patients with mtDNA depletion.
Human mutation, Vol. 21, Núm. 4, pp. 453-454
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Myoglobinuria and COX deficiency in a patient taking cerivastatin and gemfibrozil
Neurology, Vol. 60, Núm. 1, pp. 124-126
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Reactive oxygen species mediate the down-regulation of mitochondrial transcripts and proteins by tumour necrosis factor-α in L929 cells
Biochemical Journal, Vol. 370, Núm. 2, pp. 609-619
2002
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The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines
Human Mutation, Vol. 19, Núm. 3, pp. 234-239
2001
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Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene
Annals of Neurology, Vol. 50, Núm. 3, pp. 409-413
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Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family
Neurology, Vol. 57, Núm. 7, pp. 1235-1238
2000
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The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes
Molecular Genetics and Metabolism, Vol. 70, Núm. 3, pp. 238-240
1999
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A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers
Neurology, Vol. 52, Núm. 2, pp. 377-382
1998
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Mitochondrial gene expression and respiratory enzyme activities in cardiac diseases
Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1406, Núm. 1, pp. 85-90