Publicaciones en colaboración con investigadores/as de Universidad Autónoma de Madrid (20)

2020

  1. 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

  1. 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

  1. Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

    Mitochondrion, Vol. 12, Núm. 2, pp. 357-362

2010

  1. 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

  1. 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

  1. 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

  2. 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

  3. 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

  4. 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

  1. 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

  1. 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

  1. A new mtDNA mutation in the tRNALeu(UUR) gene associated with ocular myopathy

    Neuromuscular Disorders, Vol. 11, Núm. 5, pp. 477-480

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

    Neurology, Vol. 57, Núm. 7, pp. 1235-1238

  3. 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

  1. 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

  1. L-carnitine normalizes the reduced carnitine palmitoyl transferase activity in red cells from haemodialysis patients [3]

    Nephrology Dialysis Transplantation

  2. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria

    Pediatric Neurology, Vol. 17, Núm. 2, pp. 165-170

1996

  1. 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

  1. Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy

    Muscle & Nerve, Vol. 16, Núm. 7, pp. 778-781

  2. Plasma carnitine insufficiency and effectiveness of L‐carnitine therapy in patients with mitochondril myopathy

    Muscle & Nerve, Vol. 16, Núm. 2, pp. 150-153