Publicacions en què col·labora amb Miguel Ángel Fernández Moreno (7)

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

2003

  1. Myoglobinuria and COX deficiency in a patient taking cerivastatin and gemfibrozil

    Neurology, Vol. 60, Núm. 1, pp. 124-126

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. 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

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

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

2000

  1. 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