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早发型阿兹海默病
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阿尔兹海墨病纳入社区免费体检项目
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2023-01-22 16:36
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【最geek调查组】“我熬夜,我牙口不好,但是我还是很快乐!”“嗯,你离阿兹海默也很快了”
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可爱的圆圆
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2022-06-02 23:22
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PSEN2
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PSEN1
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APP
位点:RS63750066
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
More missense in amyloid gene
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations
Candidate gene for the chromosome 1 familial Alzheimer's disease locus
A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease
Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease