… and, respect to missense mutations, these duplications seem … 600759, chromosome 1q31-q42)
gene has a genetic structure … Genetic counseling and testing for Alzheimer disease: Joint …

… at position 73,664,808 in chromosome 14, is often referred to as the E280A or Paisa
mutation. … Here we show an important set of genes whose role in the pathophysiology and …

… , a mutation with a protective effect was identified in the gene … LOAD identified nonsense and
missense mutations in SORL1 gene [… analysis in a family with Familial Alzheimer’s Disease. …

… duplications have arisen de novo within each kindred [22]. … of a gene bearing missense
mutations in early-onset familial … detection in Alzheimer's disease using a novel genetic multi-…

… Most of the PSEN1 mutations are missense mutations in … Alzheimer’s disease in kindreds
with missense mutations in … implications for late-onset Alzheimer disease. Proc Natl Acad Sci …

… in PSEN1 have been reported (http://www.alzforum.org/mutations, last accessed November
10, 2020). Missense mutations in PSEN2 are a rare cause of EOAD. Mutations in APP are …

… Glu318Gly and missense and indels reported in Alzheimer's disease cases as definitely or
… individual from this kindred demonstrated high resilience to Alzheimer’s disease with a delay …

… We sought to identify genetic variants for AD through a family-based design using the …
two missense mutations within the CCL19 (rs200320850) and UNC13B (rs35199210) genes. …

… Alzheimer disease (DIAD) mutations face a higher burden of … For mutation screening, we
focused on missense, nonsense, … evaluate the novel variants identified in five kindreds (Fig. 1). …

… -Israeli family with early-onset Alzheimer disease 20 . Missense variants altering the 120 th
… reported in patients with early-onset or familial Alzheimer’s disease 19,21,22 . Our patient …