Publications dans lesquelles il/elle collabore avec MARIA DE LOS ANGELES MARTINEZ DE PANCORBO GOMEZ (21)

2021

  1. Long runs of homozygosity are associated with Alzheimer’s disease

    Translational Psychiatry, Vol. 11, Núm. 1

2019

  1. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

    Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347

2015

  1. Association of the C47T Polymorphism in SOD2 with Amnestic Mild Cognitive Impairment and Alzheimer's Disease in Carriers of the APOEε4 Allele

    Disease Markers, Vol. 2015

  2. MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE ε 4 noncarriers: Results from the dementia genetics Spanish consortium

    Journal of Alzheimer's Disease, Vol. 49, Núm. 2, pp. 343-352

2014

  1. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

    Neurobiology of Aging, Vol. 35, Núm. 2, pp. 444.e1-444.e4

2013

  1. A novel form of human disease

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

  2. Oestrogen receptor polymorphisms are an associated risk factor for mild cognitive impairment and Alzheimer disease in women APOE ε4 carriers: A case-control study

    BMJ Open, Vol. 3, Núm. 9

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

  3. 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

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