Publicaciones en colaboración con investigadores/as de Hospital Severo Ochoa (9)

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. Mitochondrial respiratory chain diseases. Evaluation and variability in 52 patients

    Revista de Neurologia, Vol. 41, Núm. 8, pp. 449-454

2003

  1. Prevalence and progression of mitochondrial diseases: A study of 50 patients

    Muscle and Nerve, Vol. 28, Núm. 6, pp. 690-695

2001

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

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

2000

  1. Myocardial carnitine and carnitine palmitoyltransferase deficiencies in patients with severe heart failure

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1502, Núm. 3, pp. 330-336

  2. 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

  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

1998

  1. 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

1996

  1. Mioglobinuria recurrente en una niña, por déficit de carnitín palmitil transferasa

    Anales Espanoles de Pediatria, Vol. 44, Núm. 1, pp. 67-69