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Ana B. Rodríguez-Martínez

University of the Basque Country

14

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334

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A Novel Form of Human Disease

2013
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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†‡

2010 American Journal of Medical Genetics
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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

2010 BMC Neurology
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Atypical/Nor98 scrapie in the Basque Country: a case report of eight outbreaks

2010 BMC Veterinary Research
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A Novel PRNP Y218N Mutation in Gerstmann-Straussler-Scheinker Disease With Neurofibrillary Degeneration

2010 Journal of Neuropathology and Experimental Neurology
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Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation

2008 Neurogenetics
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Founder effect and recurrent mutational events in fatal familial insomnia

2008 Neurogenetics
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Las encefalopatias espongiformes o enfermedades por priones en el pais vasco

2007 Gaceta Médica de Bilbao
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Ancestral origins of the prion protein gene D178N mutation in the Basque Country

2005 Human Genetics
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A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease

2005 Neurology
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Citations (90)