MARIA DE LOS ANGELES
MARTINEZ DE PANCORBO GOMEZ
Investigador/a en el periodo 2004-2023
JUAN JOSE
ZARRANZ IMIRIZALDU
Investigador/a en el periodo 2015-2018
Publicaciones en las que colabora con JUAN JOSE ZARRANZ IMIRIZALDU (14)
2013
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A novel form of human disease
Prion Biology: Research and Advances (Apple Academic Press), pp. 179-210
2010
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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
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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
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Catatonia due to a prion familial disease
Schizophrenia Research
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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
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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
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Estudio Genealógico del Insomnio Familiar Letal en el País Vasco
Antropo, Vol. 15, pp. 41-47
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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
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Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain
Parkinsonism and Related Disorders, Vol. 13, Núm. 8, pp. 509-515
2006
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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
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A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease
Neurology, Vol. 64, Núm. 9, pp. 1578-1585
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Ancestral origins of the prion protein gene D178N mutation in the Basque Country
Human Genetics, Vol. 117, Núm. 1, pp. 61-69
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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
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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