JOAQUÍN
ARENAS BARBERO
Investigador hasta 2007
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Universidad Autónoma de Madrid
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Universidad Autónoma de Madrid (20)
2020
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A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues
Mitochondrion, Vol. 50, pp. 14-18
2018
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Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders
Medicine and Science in Sports and Exercise, Vol. 50, Núm. 6, pp. 1142-1151
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
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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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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A new mtDNA mutation in the tRNALeu(UUR) gene associated with ocular myopathy
Neuromuscular Disorders, Vol. 11, Núm. 5, pp. 477-480
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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
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Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease
Clinical Genetics, Vol. 59, Núm. 1, pp. 48-51
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
1997
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L-carnitine normalizes the reduced carnitine palmitoyl transferase activity in red cells from haemodialysis patients [3]
Nephrology Dialysis Transplantation
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Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Pediatric Neurology, Vol. 17, Núm. 2, pp. 165-170
1996
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Reduced carnitine palmitoyl transferase activity and altered acyl-trafficking in red blood cells from hemodialysis patients
Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1315, Núm. 1, pp. 37-39
1993
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Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy
Muscle & Nerve, Vol. 16, Núm. 7, pp. 778-781
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Plasma carnitine insufficiency and effectiveness of L‐carnitine therapy in patients with mitochondril myopathy
Muscle & Nerve, Vol. 16, Núm. 2, pp. 150-153