Clinical genetics of Alzheimer's disease (Q33737786)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24955352 AND SRC:MED&resulttype=core&format=json

21 March 2020

review article

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title

Clinical genetics of Alzheimer's disease (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24955352 AND SRC:MED&resulttype=core&format=json

21 March 2020

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25 April 2019

19 September 2019

15 December 2019

21 December 2019

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25 April 2019

19 September 2019

15 December 2019

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biomedical investigative technique

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19 September 2019

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15 December 2019

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21 December 2019

1

1 reference

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21 March 2020

author name string

Changyun Liu

series ordinal

2

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21 March 2020

Chunhui Che

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24955352 AND SRC:MED&resulttype=core&format=json

21 March 2020

Huapin Huang

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4

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21 March 2020

language of work or name

English

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publication date

13 May 2014

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19 September 2019

15 December 2019

21 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24955352 AND SRC:MED&resulttype=core&format=json

BioMed Research International

21 March 2020

published in

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21 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24955352 AND SRC:MED&resulttype=core&format=json

21 March 2020

volume

2014

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21 March 2020

page(s)

291862

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Creative Commons Attribution 3.0 Unported

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copyright license

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cites work

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genome-wide association studies in Alzheimer's disease: a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

TREM2 Variants in Alzheimer's Disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

A brief history of Alzheimer's disease gene discovery

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genome-wide association study of Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genetics of dementia: update and guidelines for the clinician

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Early-onset familial Alzheimer's disease (EOFAD).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Locus-specific mutation databases for neurodegenerative brain diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

A comprehensive genetic association study of Alzheimer disease in African Americans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Presenilin-1 mutation Alzheimer's disease: A genetic epilepsy syndrome?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Alzheimer's disease: the challenge of the second century

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Meta-Analysis for Genome-Wide Association Study Identifies Multiple Variants at the BIN1 Locus Associated with Late-Onset Alzheimer's Disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Epidemiology of Alzheimer disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Identification of novel candidate genes for Alzheimer's disease by autozygosity mapping using genome wide SNP data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genome-wide analysis of genetic loci associated with Alzheimer disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Gene therapy in Alzheimer's disease - potential for disease modification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Neuroprotective effects of brain-derived neurotrophic factor in rodent and primate models of Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

A genome-wide association study for late-onset Alzheimer's disease using DNA pooling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Variable phenotype of Alzheimer's disease with spastic paraparesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

The genetics of very early onset Alzheimer disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Antiamyloidogenic and neuroprotective functions of cathepsin B: implications for Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Apolipoprotein E4: a causative factor and therapeutic target in neuropathology, including Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Role of Genes and Environments for Explaining Alzheimer Disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Targeting BACE1 with siRNAs ameliorates Alzheimer disease neuropathology in a transgenic model

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Uncovering gamma-secretase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Twenty years of the Alzheimer's disease amyloid hypothesis: a genetic perspective

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Gene delivery of human apolipoprotein E alters brain Abeta burden in a mouse model of Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Impact of APOE in mild cognitive impairment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Presynaptic localization of neprilysin contributes to efficient clearance of amyloid-beta peptide in mouse brain.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

A portrait of Alzheimer secretases--new features and familiar faces

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Targeted intraparenchymal delivery of human NGF by gene transfer to the primate basal forebrain for 3 months does not accelerate beta-amyloid plaque deposition

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Alzheimer's disease families with amyloid precursor protein mutations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Alzheimer's disease and Down's syndrome: Sharing of a unique cerebrovascular amyloid fibril protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Codon 618 variant of alzheimer amyloid gene associated with inherited cerebral hemorrhage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Alzheimer's disease: the amyloid cascade hypothesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

A family with histologically confirmed Alzheimer's disease.

21 June 2018

1 reference

An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).

21 January 2018

1 reference

Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family.

21 January 2018

1 reference

Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy

21 January 2018

1 reference

Novel mutations and repeated findings of mutations in familial Alzheimer disease.

21 January 2018

1 reference

Pure progressive amnesia and the APPV717G mutation

21 January 2018

1 reference

Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.

21 January 2018

1 reference

A second family with familial AD and the V717L APP mutation has a later age at onset.

21 January 2018

1 reference

A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia.

21 January 2018

1 reference

A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease.

21 January 2018

1 reference

Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort.

21 January 2018

1 reference

Presenilin enhancer-2 gene: identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease.

21 January 2018

1 reference

A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

21 January 2018

1 reference

Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update

21 January 2018

1 reference

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

21 January 2018

1 reference

Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease

21 January 2018

1 reference

Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation

21 January 2018

1 reference

Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).

21 January 2018

1 reference

Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation

21 January 2018

1 reference

Intrafamilial diversity of phenotype associated with app duplication.

21 January 2018

1 reference

Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study

21 January 2018

1 reference

New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism.

21 January 2018

1 reference

Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.

21 January 2018

1 reference

Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype

21 January 2018

1 reference

Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).

21 January 2018

1 reference

Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.

21 January 2018

1 reference

Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants

21 January 2018

1 reference

Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease

21 January 2018

1 reference

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

21 January 2018

1 reference

Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association

21 January 2018

1 reference

21 January 2018

1 reference

PICOGEN: five years experience with a genetic counselling program for dementia.

21 January 2018

1 reference

Adeno-associated viral (AAV) serotype 5 vector mediated gene delivery of endothelin-converting enzyme reduces Abeta deposits in APP PS1 transgenic mice

21 January 2018

1 reference

A phase 1 clinical trial of nerve growth factor gene therapy for Alzheimer disease

21 January 2018

1 reference

The effects of rAAV2-mediated NGF gene delivery in adult and aged rats

21 January 2018

1 reference

Herpes simplex virus RNAi and neprilysin gene transfer vectors reduce accumulation of Alzheimer's disease-related amyloid-beta peptide in vivo

21 January 2018

1 reference

Systematic Analysis of Candidate Genes for Alzheimer's Disease in a French, Genome-Wide Association Study

21 January 2018

1 reference

Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Morbus Alzheimer and morbus Pick; a genetic, clinical and patho-anatomical study.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Mis-sense mutation Val&rarr;Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052685

Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch)

30 October 2018

1 reference

Familial Alzheimer's disease in two kindreds of the same geographic and ethnic origin. A clinical and genetic study

21 January 2018

1 reference

12 December 2020

Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation

1 reference

12 December 2020

Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene

1 reference

12 December 2020

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)

1 reference

12 December 2020

Genome screen of late-onset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis

1 reference

12 December 2020

Identifiers

DOI

10.1155/2014/291862

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24955352 AND SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24955352 AND SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

24955352

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24955352 AND SRC:MED&resulttype=core&format=json