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Familial Alzheimer Disease (FAD)

Known as: familial alzheimer disease, familial alzheimer's disease 
National Institutes of Health

Related topics

Related topics

2 relations

Broader (1)

Alzheimer's Disease
Creutzfeldt-Jakob disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
A pedigree of familial alzheimer disease with spastic paraplegia carrying a novel presenilin-1 mutation
2013
2013
Relative Ratio and Level of Amyloid-β 42 Surrogate in Cerebrospinal Fluid of Familial Alzheimer Disease Patients with Presenilin 1 Mutations
Background: Presenilin 1 (PS1) mutations associated with familial Alzheimer disease (FAD) generally increase the amyloid-β 42 (A… 
2012
2012
Response to Shilling et al. (10.1074/jbc.M111.300491)
We demonstrated previously that presenilins (PS) function as endoplasmic reticulum (ER) Ca2+ leak channels and are directly… 
1998
1998
Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE)
Germ line mutations in three genes have been detected in patients with familial Alzheimer's disease (FAD) and sporadic, early… 
Highly Cited
1996
Highly Cited
1996
Identification and neuron specific expression of the S182/presenilin I protein in human and rodent brains
Many individuals with familial Alzheimer disease (FAD) have mutations in a gene termed S182 or presenilin I (PS‐I). Currently… 
1996
1996
Identification and neuron specific expression of the S182/presenilin I protein in human and rodent brains.
Many individuals with familial Alzheimer disease (FAD) have mutations in a gene termed S182 or presenilin I (PS-I). Currently… 
Review
1995
Review
1995
Does Early‐Onset Alzheimer Disease Constitute a Distinct Subtype? The Contribution of Molecular Genetics
Alzheimer disease (AD) is a clinical and pathologic diagnosis and refers to the findings of neurofibrillary tangles and amyloid… 
1993
1993
The power of systematic genealogical study in familial Alzheimer disease
Several kindreds (N,C, To and RB) with familial Alzheimer disease (FAD) from the same small area of Calabria are currently under… 
1992
1992
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene
1991
1991
Relative order and location of DNA sequences on chromosome 21 linked to familial Alzheimer disease.
Recently, a gene causing familial Alzheimer disease (FAD) was linked to DNA probes on chromosome 21 by genetic analysis. To… 
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