Significats de familial alzheimer en anglès

Several genes have been implicated in the pathogenesis of early-onset familial Alzheimer's disease.

Familial Alzheimer's disease mutations in APP-CTFs did not affect endocytic recycling of these proteins.

Sixteen affected individuals are described from two families with early onset autosomal dominant familial Alzheimer's disease.

These families with familial Alzheimer's disease have also been found to have a high incidence of Down's syndrome.

The vast majority of individuals affected with early onset familial Alzheimer's disease (FAD) carry missense mutations in PS1.

Three different APP transgenic lines responded very similarly to gamma-secretase inhibition regardless of the familial Alzheimer's disease mutations in APP.

Presenilin-1 gene mutations have been proven to be associated with the majority of early-onset familial Alzheimer's disease (FAD).

Objective: To assess regional patterns of gray and white matter atrophy in familial Alzheimer disease (FAD) mutation carriers.

Mutations in presenilin genes impair Notch signalling and, in humans, have been implicated in the development of familial Alzheimer's disease.

To define the minimal sequence requirements for "replacement" we expressed familial Alzheimer's disease-linked and experimental deletion variants of PS1.

We investigated this hypothesis by evaluating cells from individuals from pedigrees of familial Alzheimer disease (FAD) for hypersensitivity to x-irradiation.

A family history has proved most robust with the identification of three genetic loci associated with autosomal dominant familial Alzheimer's disease (FAD).

We performed a longitudinal study of asymptomatic individuals at risk of autosomal dominant familial Alzheimer's disease in order to assess presymptomatic changes in the HF.

Mutations in two related genes, PS1 and PS2, account for the majority of early onset cases of familial Alzheimer's disease.

Further, we have found that BAP hybridizes to chromosome 9 in lymphoblastoid cells from three individuals from two families with familial Alzheimer Disease (AD).

We have previously reported that familial Alzheimer's disease linked presenilin-1 variants downregulate the signaling pathway of the UPR by affecting the phosphorylation of Ire1 alpha.