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

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

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

http://www.wikidata.org/entity/Q33771562

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Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries Amyloid-beta (Aβ) D7H mutation increases oligomeric Aβ42 and alters properties of Aβ-zinc/copper assemblies Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers Genetic variability in CLU and its association with Alzheimer's disease.A thorough assessment of benign genetic variability in GRN and MAPT.Clinical genetics of Alzheimer's disease Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.Analyzing microarray data of Alzheimer's using cluster analysis to identify the biomarker genes.Differential regulation of amyloid precursor protein/presenilin 1 interaction during Aβ40/42 [corrected] production detected using fusion constructs.Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.Mutation analysis of patients with neurodegenerative disorders using NeuroX array Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function.Estimation and visualization of identity-by-descent within pedigrees simplifies interpretation of complex trait analysis.Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation.Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice Locus-specific mutation databases for neurodegenerative brain diseases APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.CLU genetic variants and cognitive decline among elderly and oldest old A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.Design of a comprehensive Alzheimer's disease clinic and research center in Spain to meet critical patient and family needs.A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer's dementia supported by structure prediction A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.The role of low-dose aspirin in the prevention of colorectal cancer.Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease The curation of genetic variants: difficulties and possible solutions.Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.Alzheimer's disease genetics: from the bench to the clinic.Autosomal-dominant Alzheimer's disease mutations at the same codon of amyloid precursor protein differentially alter Aβ production.

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

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2008 nî lūn-bûn

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2008 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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Neurobiology of Aging

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Alberto Lleó

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Alfredo Sa

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Alvaro Machado

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Carla Ferreira

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Fernando Valdivieso

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Isabel Hernández

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Jose Miguel Brás

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José Masdeu

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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

Neuropathological stageing of Alzheimer-related changes

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

A human genome diversity cell line panel

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

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

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

Disease-specific accumulation of mutant ubiquitin as a marker for proteasomal dysfunction in the brain.

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

New frontiers in Alzheimer's disease genetics.

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Ekaterina Rogaeva

Jordi Clarimón

José Luis Molinuevo

Catarina R. Oliveira

Jordi Pérez-Tur

Andrew Singleton

John Anthony Hardy

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Alzheimer's disease

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