Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum - Wikidata - wikimedia - TriplyDB

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

http://www.wikidata.org/entity/Q33870467

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Alzheimer mechanisms and therapeutic strategies The genetic epidemiology of neurodegenerative disease.Plasma and CSF Abeta for the longitudinal prediction of Alzheimer's disease dementia and other dementias in people with cognitive decline but no dementia A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease Genetic aspects of Alzheimer disease Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease Diagnosis and treatment of dementia: 1. Risk assessment and primary prevention of Alzheimer disease Modeling Alzheimer's Disease with Induced Pluripotent Stem Cells: Current Challenges and Future Concerns Apolipoprotein E: from cardiovascular disease to neurodegenerative disorders Prevalence of neurogenetic disorders in the North of England Towards understanding the roles of heparan sulfate proteoglycans in Alzheimer's disease Research progress on flavonoids isolated from traditional Chinese medicine in treatment of Alzheimer's disease Genetic of Alzheimer's Disease: A Narrative Review Article Epigenetics of Alzheimer's disease and frontotemporal dementia Ushering in the study and treatment of preclinical Alzheimer disease R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study Genetics through a primary care lens.Developmental lead exposure and lifespan alterations in epigenetic regulators and their correspondence to biomarkers of Alzheimer's disease Changed membrane integration and catalytic site conformation are two mechanisms behind the increased Aβ42/Aβ40 ratio by presenilin 1 familial Alzheimer-linked mutations.The sour side of neurodegenerative disorders: the effects of protein glycation.Truncating mutations in APP cause a distinct neurological phenotype.The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families.Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.What the study of persons at risk for familial Alzheimer's disease can tell us about the earliest stages of the disorder: a review.Alzheimer's second patient: Johann F. and his family.Regulation of amyloid precursor protein processing by the Beclin 1 complex Meta Analysis of Human AlzGene Database: Benefits and Limitations of Using C. elegans for the Study of Alzheimer's Disease and Co-morbid Conditions Abnormal gephyrin immunoreactivity associated with Alzheimer disease pathologic changes.Genomic susceptibility Loci for brain atrophy, ventricular volume, and leukoaraiosis in hypertensive sibships Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration Resting-state network dysfunction in Alzheimer's disease: A systematic review and meta-analysis.Neuroprotective mechanism of Kai Xin San: upregulation of hippocampal insulin-degrading enzyme protein expression and acceleration of amyloid-beta degradation.Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP Genome-wide scan for copy number variation association with age at onset of Alzheimer's disease.Alzheimer's disease and vascular dementia in developing countries: prevalence, management, and risk factors.Recent insights into the molecular genetics of dementia 11C-PIB PET imaging reveals that amyloid deposition in cases with early-onset Alzheimer's disease in the absence of known mutations retains higher levels of PIB in the basal ganglia Inhibitory interneuron progenitor transplantation restores normal learning and memory in ApoE4 knock-in mice without or with Aβ accumulation

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Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

http://www.wikidata.org/entity/Q33870467

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1999 nî lūn-bûn

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1999年論文

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Early-onset autosomal dominant ...... geneity, and mutation spectrum

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Early-onset autosomal dominant ...... geneity, and mutation spectrum

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Belliard S

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P2860

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.

Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.

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.

Apolipoprotein E epsilon4 allele and familial aggregation of Alzheimer disease.

Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile.

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

Exploring the etiology of Alzheimer disease using molecular genetics.

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