… Truncating variants reported in prion disease cases in the literature (table S2) and in our
cohorts (table S1) cluster exclusively in the C-terminal region (residue ≥145), whereas …

Background Rare TREM2 variants are significant risk factors for Alzheimer's disease (AD).
Methods We used next generation sequencing of the whole gene (n = 700), exon 2 Sanger …

We report the presence of infectivity in erythrocytes, leukocytes, and plasma of 1 person
with variant Creutzfeldt-Jakob disease and in the plasma of 2 in 4 persons whose tests were …

Objective To determine whether preventive trials in genetic prion disease could be designed
to follow presymptomatic mutation carriers to onset of disease. Methods We assembled age …

Objectives The main objective of the present study is to study the therapeutic efficiency of
doxycycline in a double-blinded randomised phase II study in a cohort of patients with sporadic …

… symptoms).12 ,30 The third category (C) comprises symptoms and signs which are typical for
FFI… according to their frequency and chronological occurrence (category C). Our aims were: …

… Two types of mutations are found: point mutations leading to amino acid exchanges in the
central and the C-terminal part of the PrP and repeats of a 24-bp unit increasing the number of …

Anticipation is the phenomenon whereby age of onset in genetic disease decreases in
successive generations. Three independent reports have claimed anticipation in Creutzfeldt-…

… A temperatura de conservação dos imunobiológicos no nível local deve permanecer
entre +2º C e +8º C. Apesar do número de respostas corretas ser significativamente alto, é …

… at 96C for 3 min followed by 30 cycles of 96C for 30 s, annealing temperature (see S5 Table)
for 30 s and extension temperature of 72C for 1 min with a final extension at 72C for 10 min. …