Publicaciones en las que colabora con Juan Bautista Palomas (24)

2009

  1. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

    Human genetics, Vol. 125, Núm. 3, pp. 342

  2. Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

    Journal of Medical Genetics, Vol. 46, Núm. 3, pp. 198-202

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. Exercise training in mitochondrial myopathy: A randomized controlled trial

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

  2. 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

2004

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

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

2001

  1. Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease

    Journal of the Neurological Sciences, Vol. 192, Núm. 1-2, pp. 81-84

  2. Mitochondrial disease and stroke

    Stroke, Vol. 32, Núm. 11, pp. 2507-2510

2000

  1. Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

    Muscle and Nerve, Vol. 23, Núm. 4, pp. 538-542

  2. Molecular analysis of Spanish patients with AMP deaminase deficiency

    Muscle and Nerve, Vol. 23, Núm. 8, pp. 1175-1178

  3. Role of cardiopulmonary exercise test in patients with mitochondrial myopathies

    Medicina Clinica, Vol. 114, Núm. 4, pp. 121-127

1999

  1. A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene.

    Human mutation, Vol. 14, Núm. 6, pp. 545

  2. Encefalomiopatia mitocondrial de presentacion tardia, con oftalmoplejia externa progresiva, temblor y leucoencefalopatia difusa

    Neurologia, Vol. 14, Núm. 9, pp. 463-466

  3. Insuficiencia respiratoria aguda como unica manifestacion clinica de una miopatia mitocondrial en el adulto

    Neurologia

1998

  1. Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain

    Journal of the Neurological Sciences, Vol. 161, Núm. 2, pp. 110-113

1997

  1. Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: A second case of 'double trouble'

    Neuromuscular Disorders, Vol. 7, Núm. 6-7, pp. 387-389

1996

  1. Effects of growth hormone treatment on skeletal muscle and exercise capacity in adults with growth hormone deficiency

    Endocrinology and Metabolism, Supplement, Vol. 3, Núm. SUPPL. A, pp. 131

1995

  1. Clinical heterogeneity in two pedigrees with the 3243 bp tRNALeu(UUR) mutation of mitochondrial DNA

    Acta Neurologica Scandinavica, Vol. 91, Núm. 1, pp. 62-65

1994

  1. Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA

    Journal of Inherited Metabolic Disease, Vol. 17, Núm. 5, pp. 634-635

1993

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

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