JOSÉ IGNACIO EMPARANZA KNORR-rekin lankidetzan egindako argitalpenak (8)

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

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

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

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