Publicaciones en las que colabora con JUAN JOSE ZARRANZ IMIRIZALDU (14)

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. Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the α-synuclein gene (SNCA)

    Clinical Autonomic Research, Vol. 20, Núm. 4, pp. 267-269

2009

  1. Catatonia due to a prion familial disease

    Schizophrenia Research

  2. Lrrk2 R1441G-related Parkinson's disease: Evidence of a common founding event in the seventh century in Northern Spain

    Neurogenetics, Vol. 10, Núm. 4, pp. 347-353

2008

  1. 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. Estudio Genealógico del Insomnio Familiar Letal en el País Vasco

    Antropo, Vol. 15, pp. 41-47

  2. 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

  3. Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain

    Parkinsonism and Related Disorders, Vol. 13, Núm. 8, pp. 509-515

2006

  1. Polymorphism in the cholesterol 24S-hydroxylase gene (CYP46A1) associated with the APOEε3 allele increases the risk of Alzheimer's disease and of mild cognitive impairment progressing to Alzheimer's disease

    Dementia and Geriatric Cognitive Disorders, Vol. 21, Núm. 2, pp. 81-87

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