ANA BELÉN RODRÍGUEZ MARTÍNEZ-rekin lankidetzan egindako argitalpenak (10)

2013

  1. A novel form of human disease

    Prion Biology: Research and Advances (Apple Academic Press), pp. 179-210

2010

  1. A novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report.

    BMC neurology, Vol. 10, pp. 99

  2. Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 7, pp. 1283-1291

2008

  1. Founder effect and recurrent mutational events in fatal familial insomnia

    Neurogenetics

  2. Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation

    Neurogenetics, Vol. 9, Núm. 2, pp. 109-118

2007

  1. Las encefalopatías espongiformes o enfermedades por priones en el País Vasco

    Gaceta médica de Bilbao: Revista oficial de la Academia de Ciencias Médicas de Bilbao. Información para profesionales sanitarios, Vol. 104, Núm. 2, pp. 64-69

2005

  1. A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease

    Neurology, Vol. 64, Núm. 9, pp. 1578-1585

  2. Ancestral origins of the prion protein gene D178N mutation in the Basque Country

    Human Genetics, Vol. 117, Núm. 1, pp. 61-69

  3. Phenotypic variability in familial prion diseases due to the D178N mutation

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 76, Núm. 11, pp. 1491-1496

2003

  1. 5-Hydroxytryptamine 6 receptor (5-HT6) receptor and apolipoprotein E (ApoE) polymorphisms in patients with Alzheimer's disease in the Basque Country

    Neuroscience Letters, Vol. 339, Núm. 1, pp. 85-87