MARIA DE LOS ANGELES
MARTINEZ DE PANCORBO GOMEZ
Forscher/in in der Zeit 2004-2023
Ana Belén
Rodríguez Martínez
Publikationen, an denen er mitarbeitet Ana Belén Rodríguez Martínez (10)
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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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
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Founder effect and recurrent mutational events in fatal familial insomnia
Neurogenetics
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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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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
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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