Publicaciones en las que colabora con Yolanda Campos Martín (104)

2012

  1. Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA Leu(CUN) gene

    Mitochondrion, Vol. 12, Núm. 2, pp. 288-293

2008

  1. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

    Brain, Vol. 131, Núm. 2, pp. 338-351

2007

  1. A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy

    Neuromuscular Disorders, Vol. 17, Núm. 5, pp. 415-418

  2. Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

    Neuromuscular Disorders, Vol. 17, Núm. 9-10, pp. 677-680

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

  2. NARP-MILS syndrome caused by 8993 T > G mitochondrial DNA mutation: A clinical, genetic and neuropathological study

    Acta Neuropathologica, Vol. 111, Núm. 6, pp. 610-616

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. Exercise training in mitochondrial myopathy: A randomized controlled trial

    Muscle and Nerve, Vol. 32, Núm. 3, pp. 342-350

  3. 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

  4. 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

  5. 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

  6. Renal pathology in children with mitochondrial diseases

    Pediatric Nephrology, Vol. 20, Núm. 9, pp. 1299-1305

  7. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 102, Núm. 20, pp. 7127-7132

2004

  1. Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE

    Neurology, Vol. 63, Núm. 8, pp. 1536-1537

2003

  1. Intestinal pseudo-obstruction and urinary retention: Cardinal features of a mitochondrial DNA-related disease

    Journal of Internal Medicine, Vol. 253, Núm. 3, pp. 381-385

  2. Lipomatosis simétrica múltiple asociada a polineuropatía, atrofia de cerebelo y citopatía mitocondrial

    Revista de Neurologia, Vol. 36, Núm. 11, pp. 1026-1029

  3. Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

    American Journal of Human Genetics, Vol. 72, Núm. 4, pp. 1005-1012

  4. Mutation analysis in 16 patients with mtDNA depletion.

    Human mutation, Vol. 21, Núm. 4, pp. 453-454

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

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

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

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