Joaquim A. P. M. Beck

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BACKGROUND Three causative genes have been identified for autosomal dominant AD. OBJECTIVE To determine the proportion of patients with early onset AD with a positive family history accounted for by mutations in these genes. METHODS A mutational analysis of the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes was(More)
BACKGROUND No susceptibility genes have been identified in human prion disase, apart from the prion protein gene (PRNP). The gene SPRN, encodes Shadoo (Sho, shadow of prion protein) which has protein homology and possible functional links with the prion protein. METHODS A genetic screen was carried out of the open reading frame of SPRN by direct(More)
Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease (AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory. Screening for PSEN1 mutations may be(More)
An amorphous silicon EPID has been investigated to determine whether it is capable of quality control constancy measurements for linear accelerator electron beams. The EPID grayscale response was found to be extremely linear with dose over a wide dose range and, more specifically, for exposures of 95-100 MU. Small discrepancies of up to 0.8% in linearity(More)
Insertions of integral numbers of an octapeptide repeat in the prion protein gene are pathogenic mutations associated with inherited prion diseases. Conversely, deletions of a single octapeptide repeat are found as normal polymorphisms in many populations and do not predispose individuals to prion disease. The authors report a two-octapeptide repeat(More)
About 15% of human prion diseases are inherited, and are associated with point or insertional mutations of the prion protein gene (PRNP). Four families with six octapeptide repeat insertions (OPRI) in the PRNP gene have been described in the literature so far. Here we report two cases in a Hungarian family with a new six OPRI (R1R2R2R3R2R3gR3R2R2R3R4) in(More)
BACKGROUND AND PURPOSE Evidence suggests that phosphorylation of TRPV1 is an important component underlying its aberrant activation in pathological pain states. To date, the detailed pharmacology of diverse TRPV1 receptor agonists and antagonists has yet to be reported for native TRPV1 under phosphorylating conditions. Our goal was to optimize a relatively(More)