José Ignacio Emparanza-rekin lankidetzan egindako argitalpenak (16)

2018

  1. Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis

    Muscle and Nerve, Vol. 58, Núm. 4, pp. 517-522

2010

  1. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1

    Psychological Medicine, Vol. 40, Núm. 3, pp. 487-495

2008

  1. Minimizing creatine kinase variability in rats for neuromuscular research purposes

    Laboratory Animals, Vol. 42, Núm. 1, pp. 19-25

2007

  1. Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population

    Neurobiology of Aging, Vol. 28, Núm. 12, pp. 1941-1943

  2. Influence of CCR5-Δ32 genotype in Spanish population with multiple sclerosis

    Neurogenetics, Vol. 8, Núm. 3, pp. 201-205

2006

  1. Apolipoprotein E ε4 allele in familial and sporadic Parkinson's disease

    Neuroscience Letters, Vol. 406, Núm. 3, pp. 235-239

  2. CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population

    Multiple Sclerosis, Vol. 12, Núm. 4, pp. 511-514

2005

  1. LGMD2A: Genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene

    Brain, Vol. 128, Núm. 4, pp. 732-742

2004

  1. Mitochondrial haplogroups in Basque multiple sclerosis patients

    Multiple Sclerosis, Vol. 10, Núm. 5, pp. 532-535

2000

  1. Sindrome de apnea del sueno e infarto cerebral

    Neurologia, Vol. 15, Núm. 1, pp. 3-7

1995

  1. Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy

    Journal of Medical Genetics, Vol. 32, Núm. 2, pp. 105-108

  2. Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy

    Journal of Medical Genetics, Vol. 32, Núm. 9, pp. 689-691

1994

  1. Anticipation in myotonic dystrophy: A parental-sex-related phenomenon

    Neuroepidemiology, Vol. 13, Núm. 1-2, pp. 75-78

1993

  1. Clinical manifestations of myotonic dystrophy: epidemiologic survey

    Medicina clínica, Vol. 101, Núm. 5, pp. 161-164

  2. Prevalence of myotonic dystrophy in guipúzcoa (basque country, spain)

    Neurology, Vol. 43, Núm. 8, pp. 1573-1576

  3. Sex-related difference in intergenerational expansion of myotonic dystrophy gene

    The Lancet