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Phenotypic variability in familial prion diseases due to the D178N mutation
Background: Between January 1993 and December 2003, 19 patients with familial prion diseases due to the D178N mutation were referred to the regional epidemiological registry for spongiformExpand
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Validation of the Minnesota living with heart failure questionnaire in primary care.
INTRODUCTION AND OBJECTIVES To evaluate the applicability, internal consistency and validity of the Minnesota Living with Heart Failure Questionnaire (MLHFQ) when used in primary care, compared withExpand
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Ancestral origins of the prion protein gene D178N mutation in the Basque Country
Fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD) are familial prion diseases with autosomal dominant inheritance of the D178N mutation. FFI has been reported in at least 27Expand
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Validación del Minnesota Living With Heart Failure Questionnaire en atención primaria
Introduction and objectives. To evaluate the applicability, internal consistency and validity of the Minnesota Living with Heart Failure Questionnaire (MLHFQ) when used in primary care, compared withExpand
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A technology platform for digital nucleic acid diagnostics at the point of care
Abstract The combination of digital amplification and centrifugal microfluidics can enable quantitative and fast diagnostics at the point of care (PoC). The new unit operation of centrifugal stepExpand
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Geographical Analysis of the Sporadic Creutzfeldt-Jakob Disease Distribution in the Autonomous Community of the Basque Country for the Period 1995-2008
Background: The Basque Country, in Spain, shows one of the highest sporadic Creutzfeldt-Jakob disease (sCJD) incidence rates in Europe. The purpose is to analyse a possible focus of unidentifiedExpand
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Optimized short digestion protocol for free fetal DNA detection using methylation-dependent markers
Abstract Background: Circulating free DNA (cfDNA) digestion with methylation sensitive restriction enzymes constitutes an important diagnostic tool for differentiating methylated from non-methylatedExpand