Chasing genes in Alzheimer's and Parkinson's disease (Q35681844)

9 August 2017

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title

Chasing genes in Alzheimer's and Parkinson's disease (English)

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9 August 2017

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3

Peter Heutink

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9 August 2017

2

Ben A Oostra

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9 August 2017

Aida M Bertoli-Avella

series ordinal

1

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PubMed ID

14999561

9 August 2017

language of work or name

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4 March 2004

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9 August 2017

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9 August 2017

114

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9 August 2017

5

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9 August 2017

413-438

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https://scigraph.springernature.com/pub.10.1007/s00439-004-1097-7

9 August 2017

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cites work

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S18Y polymorphism in the UCH-L1 gene and Parkinson's disease: Evidence for an age-dependent relationship

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Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP.

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Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system

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Genetic association of an alpha2-macroglobulin (Val1000lle) polymorphism and Alzheimer's disease.

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Deciphering the genesis and fate of amyloid beta-protein yields novel therapies for Alzheimer disease

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The role of the ubiquitin-proteasomal pathway in Parkinson's disease and other neurodegenerative disorders

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Assembly of the gamma-secretase complex involves early formation of an intermediate subcomplex of Aph-1 and nicastrin

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Atypical dementia associated with a novel presenilin-2 mutation

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12 December 2020

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation

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12 December 2020

Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein

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Alpha-2 macroglobulin polymorphism and Alzheimer disease risk in the UK.

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Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

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PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study

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12 December 2020

D10S1423 identifies a susceptibility locus for Alzheimer's disease in a prospective, longitudinal, double-blind study of asymptomatic individuals

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Risk of dementia among relatives of Alzheimer's disease patients in the MIRAGE study: What is in store for the oldest old?

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Familial Parkinson's disease: a community-based study

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Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

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Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease.

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12 December 2020

Full genome screen for Alzheimer disease: Stage II analysis

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12 December 2020

Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes

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12 December 2020

Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease

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12 December 2020

Zeroing in on the pathogenic form of alpha-synuclein and its mechanism of neurotoxicity in Parkinson's disease

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12 December 2020

Genes, models and Alzheimer's disease

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12 December 2020

Alpha-2 macroglobulin gene and Alzheimer disease.

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12 December 2020

Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis

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12 December 2020

Alzheimer's disease: the amyloid cascade hypothesis

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12 December 2020

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage

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12 December 2020

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

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Alzheimer's second patient: Johann F. and his family

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Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex

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Initiation and Synergistic Fibrillization of Tau and Alpha-Synuclein

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

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12 December 2020

Synphilin-1 is present in Lewy bodies in Parkinson's disease

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12 December 2020

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes

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12 December 2020

Alzheimer's disease in Finnish twins.

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12 December 2020

Twin studies and the genetics of Parkinson's disease--a reappraisal

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12 December 2020

Alpha2-macroglobulin polymorphism is not associated with AD or AD-type neuropathology in the Japanese.

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12 December 2020

Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease

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12 December 2020

Nicastrin Is Required for Assembly of Presenilin/γ-Secretase Complexes to Mediate Notch Signaling and for Processing and Trafficking of β-Amyloid Precursor Protein in Mammals

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12 December 2020

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12 December 2020

Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system

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12 December 2020

NR4A2 mutations are rare among European patients with familial Parkinson's disease

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12 December 2020

Complete genomic screen in Parkinson disease: evidence for multiple genes.

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12 December 2020

Segregation analysis of Parkinson disease revealing evidence for a major causative gene.

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12 December 2020

Parkin variants in North American Parkinson's disease: cases and controls.

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12 December 2020

Risk of dementia in relatives of patients with Alzheimer's disease

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12 December 2020

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

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12 December 2020

Lewy bodies and parkinsonism in families with parkin mutations

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12 December 2020

Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

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12 December 2020

Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27

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12 December 2020

The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.

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12 December 2020

Plasma and cerebrospinal fluid levels of amyloid beta proteins 1-40 and 1-42 in Alzheimer disease.

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12 December 2020

Clinical genetic analysis of Parkinson's disease in the Contursi kindred

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12 December 2020

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12 December 2020

An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants.

1 reference

12 December 2020

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

1 reference

12 December 2020

Pathology and biology of the Lewy body

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12 December 2020

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

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12 December 2020

The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease.

1 reference

12 December 2020

NURR1 promoter polymorphisms: Parkinson's disease, schizophrenia, and personality traits.

1 reference

12 December 2020

A comprehensive review of genetic association studies

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12 December 2020

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

1 reference

12 December 2020

Genetic transmission of Alzheimer's disease among families in a Dutch population based study

1 reference

12 December 2020

Differing patterns of aberrant neuronal sprouting in Alzheimer's disease with and without Lewy bodies

1 reference

12 December 2020

The alpha2-macroglobulin gene in AD: a population-based study and meta-analysis

1 reference

12 December 2020

Oxidized forms of peroxiredoxins and DJ-1 on two-dimensional gels increased in response to sublethal levels of paraquat

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12 December 2020

Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.

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12 December 2020

Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila

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12 December 2020

alphaT-catenin: a novel tissue-specific beta-catenin-binding protein mediating strong cell-cell adhesion

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12 December 2020

The role of presenilin cofactors in the gamma-secretase complex

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12 December 2020

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.

1 reference

12 December 2020

Age at onset in two common neurodegenerative diseases is genetically controlled

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12 December 2020

Crystal structure of DJ-1/RS and implication on familial Parkinson's disease

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12 December 2020

A large kindred with autosomal dominant Parkinson's disease

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12 December 2020

Parkinson disease, dementia, and Alzheimer disease: clinicopathological correlations.

1 reference

12 December 2020

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

12 December 2020

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease

1 reference

12 December 2020

Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene

1 reference

12 December 2020

Susceptibility locus for Alzheimer's disease on chromosome 10.

1 reference

12 December 2020

Apolipoprotein E, epsilon 4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region.

1 reference

12 December 2020

Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders

1 reference

12 December 2020

A second locus for very-late-onset Alzheimer disease: a genome scan reveals linkage to 20p and epistasis between 20p and the amyloid precursor protein region

1 reference

12 December 2020

Clinical and neuropathological aspects of autosomal recessive juvenile parkinsonism.

1 reference

12 December 2020

alpha-synuclein gene haplotypes are associated with Parkinson's disease

1 reference

12 December 2020

Complex relationship between Parkin mutations and Parkinson disease

1 reference

12 December 2020

Mutant genes in familial Alzheimer's disease and transgenic models

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

PS2APP transgenic mice, coexpressing hPS2mut and hAPPswe, show age-related cognitive deficits associated with discrete brain amyloid deposition and inflammation.

1 reference

12 December 2020

The role of heredity in late-onset Alzheimer disease and vascular dementia. A twin study

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12 December 2020

The genetic defect causing familial Alzheimer's disease maps on chromosome 21.

1 reference

12 December 2020

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

1 reference

12 December 2020

Fine mapping of the -T catenin gene to a quantitative trait locus on chromosome 10 in late-onset Alzheimer's disease pedigrees

1 reference

12 December 2020

Genome-wide scan for Parkinson's disease: the GenePD Study

1 reference

12 December 2020

The 1.1-A resolution crystal structure of DJ-1, the protein mutated in autosomal recessive early onset Parkinson's disease

1 reference

12 December 2020

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

1 reference

12 December 2020

Parkinson's disease in 65 pairs of twins and in a set of quadruplets

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12 December 2020

Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.

1 reference

12 December 2020

Results of a high-resolution genome screen of 437 Alzheimer's disease families

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12 December 2020

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

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12 December 2020

The crystal structure of DJ-1, a protein related to male fertility and Parkinson's disease

1 reference

12 December 2020

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

1 reference

12 December 2020

Complex segregation analysis of Parkinson's disease in the Finnish population

1 reference

12 December 2020

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease

1 reference

12 December 2020

Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity

1 reference

12 December 2020

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

1 reference

12 December 2020

alpha-Synuclein locus triplication causes Parkinson's disease

1 reference

12 December 2020

Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures

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12 December 2020

Apolipoprotein E fragments present in Alzheimer's disease brains induce neurofibrillary tangle-like intracellular inclusions in neurons

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12 December 2020

Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease

1 reference

12 December 2020

Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease.

1 reference

12 December 2020

The beta APP717 Alzheimer mutation increases the percentage of plasma amyloid-beta protein ending at A beta42(43).

1 reference

12 December 2020

Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity.

1 reference

12 December 2020

Has familial aggregation in Alzheimer's disease been overestimated?

1 reference

12 December 2020

Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12.

1 reference

12 December 2020

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

1 reference

12 December 2020

Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab community.

1 reference

12 December 2020

Segregation analysis of Parkinson disease.

1 reference

12 December 2020

Apolipoprotein E isoform-dependent amyloid deposition and neuritic degeneration in a mouse model of Alzheimer's disease

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12 December 2020

Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein

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12 December 2020

Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence for genetic linkage of Alzheimer's disease to chromosome 10q

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12 December 2020

Prevalence of Alzheimer's disease in a community population of older persons. Higher than previously reported.

1 reference

12 December 2020

Extrapyramidal signs in Alzheimer's disease.

1 reference

12 December 2020

Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onset Alzheimer's disease

1 reference

12 December 2020

Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

1 reference

12 December 2020

Mouse and fly models of neurodegeneration

1 reference

12 December 2020

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

1 reference

12 December 2020

Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice

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12 December 2020

Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients

1 reference

12 December 2020

A familial Alzheimer's disease locus on chromosome 1.

1 reference

12 December 2020

Parkin is linked to the ubiquitin pathway

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12 December 2020

The amyloid precursor protein locus and very-late-onset Alzheimer disease

1 reference

12 December 2020

Alpha-2 macroglobulin is genetically associated with Alzheimer disease.

1 reference

12 December 2020

Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease.

1 reference

12 December 2020

Parkinson disease in twins: an etiologic study

1 reference

12 December 2020

Parkinson's disease in a nationwide twin cohort

1 reference

12 December 2020

Allelic association between the D10S1423 marker and Alzheimer's disease in a German population.

1 reference

12 December 2020

Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease

1 reference

12 December 2020

A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution.

1 reference

12 December 2020

Crystal structure of human DJ-1, a protein associated with early onset Parkinson's disease

1 reference

12 December 2020

DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia.

1 reference

12 December 2020

Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene.

1 reference

12 December 2020

A susceptibility gene for late-onset idiopathic Parkinson's disease

1 reference

12 December 2020

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice

1 reference

12 December 2020

RING finger 1 mutations in Parkin produce altered localization of the protein

1 reference

12 December 2020

Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families

1 reference

12 December 2020

Transgenic mouse models of Alzheimer's disease: phenotype and application

1 reference

12 December 2020

Lack of association between ubiquitin carboxy-terminal hydrolase L1 gene polymorphism and PD

1 reference

12 December 2020

The genetics of Alzheimer's disease

1 reference

12 December 2020

History of dementia and Parkinson's disease in 1st-degree relatives of patients with Alzheimer's disease

1 reference

12 December 2020

Heterogeneity in dementia of the Alzheimer type: evidence of subgroups

1 reference

12 December 2020

Prevalence of parkinsonism and Parkinson's disease in Europe: the EUROPARKINSON Collaborative Study. European Community Concerted Action on the Epidemiology of Parkinson's disease

1 reference

12 December 2020

Chromosome-12 mapping of late-onset Alzheimer disease among Caribbean Hispanics

1 reference

12 December 2020

Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.

1 reference

12 December 2020

Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity

1 reference

12 December 2020

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease

1 reference

12 December 2020

Pathology of familial Alzheimer's disease with Lewy bodies.

1 reference

12 December 2020

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

1 reference

12 December 2020

Frequency and distribution of Alzheimer's disease in Europe: a collaborative study of 1980-1990 prevalence findings. The EURODEM-Prevalence Research Group.

1 reference

12 December 2020

Neocortical lewy body counts correlate with dementia in the Lewy body variant of Alzheimer's disease.

1 reference

12 December 2020

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

12 December 2020

Epidemiologic study of 203 sibling pairs with Parkinson's disease: the GenePD study.

1 reference

12 December 2020

Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1

1 reference

12 December 2020

Alzheimer's disease in the National Academy of Sciences-National Research Council Registry of Aging Twin Veterans. III. Detection of cases, longitudinal results, and observations on twin concordance

1 reference

12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

12 December 2020

Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein.

1 reference

12 December 2020

Genetic association of the low-density lipoprotein receptor-related protein gene (LRP), an apolipoprotein E receptor, with late-onset Alzheimer's disease

1 reference

12 December 2020

Once and Again—Issues Surrounding Replication in Genetic Association Studies

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12 December 2020

Parkin accumulation in aggresomes due to proteasome impairment

1 reference

12 December 2020

Multiple threshold model for the onset of Alzheimer's disease in the NAS-NRC twin panel

1 reference

12 December 2020

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.

1 reference

12 December 2020

Segregation analysis reveals evidence of a major gene for Alzheimer disease

1 reference

12 December 2020

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

1 reference

12 December 2020

Dopamine neuron agenesis in Nurr1-deficient mice

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12 December 2020

A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain

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12 December 2020

Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations

1 reference

12 December 2020

Neuropathology of synuclein aggregates

1 reference

12 December 2020

Alzheimer disease: current concepts and emerging diagnostic and therapeutic strategies

1 reference

12 December 2020

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

1 reference

12 December 2020

PARK6-linked parkinsonism occurs in several European families.

1 reference

12 December 2020

Low frequency of alpha-synuclein mutations in familial Parkinson's disease.

1 reference

12 December 2020

Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families

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12 December 2020

The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI

1 reference

12 December 2020

Risk of Parkinson's disease among first-degree relatives: A community-based study

1 reference

12 December 2020

The neuron-specific protein PGP 9.5 is a ubiquitin carboxyl-terminal hydrolase

1 reference

12 December 2020

A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease.

1 reference

12 December 2020

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease

1 reference

12 December 2020

Age but not diagnosis is the main predictor of plasma amyloid beta-protein levels.

1 reference

12 December 2020

The ubiquitin pathway in Parkinson's disease.

1 reference

12 December 2020

Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element

1 reference

12 December 2020

[Genetic factors are often found inl Alzheimer disease. An extensive twin study to clarify the heredity-environment relationship]

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12 December 2020

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

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12 December 2020

Alpha-synuclein in Lewy bodies

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12 December 2020

The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue

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12 December 2020

Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease

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12 December 2020

Alpha2-macroglobulin complexes with and mediates the endocytosis of beta-amyloid peptide via cell surface low-density lipoprotein receptor-related protein.

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular pathology of Alzheimer's disease

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12 December 2020

Lack of association of the alpha2-macroglobulin locus on chromosome 12 in AD.

1 reference

12 December 2020

Contribution of Lewy body inclusions to dementia in patients with and without Alzheimer disease neuropathological conditions.

1 reference

12 December 2020

Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype

1 reference

12 December 2020

A Drosophila model of Parkinson's disease

1 reference

12 December 2020

Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease.

1 reference

12 December 2020

Association between early-onset Parkinson's disease and mutations in the parkin gene

1 reference

12 December 2020

Familial Aggregation of Alzheimer's Disease and Related Disorders: A Collaborative Re-Analysis of Case-Control Studies

1 reference

12 December 2020

Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees

1 reference

12 December 2020

No genetic association between the LRP receptor and sporadic or late-onset familial Alzheimer disease.

1 reference

12 December 2020

Alzheimer disease: evidence for susceptibility loci on chromosomes 6 and 14

1 reference

12 December 2020

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part IX. A prospective cliniconeuropathologic study of Parkinson's features in Alzheimer's disease.

1 reference

12 December 2020

Genomewide scans of complex human diseases: true linkage is hard to find

1 reference

12 December 2020

Genetic studies on chromosome 12 in late-onset Alzheimer disease.

1 reference

12 December 2020

1 reference

12 December 2020

The role of pathogenic DJ-1 mutations in Parkinson's disease.

1 reference

12 December 2020

Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations

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12 December 2020

Mapping of a gene for Parkinson's disease to chromosome 4q21-q23

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12 December 2020

An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene.

1 reference

12 December 2020

The number of trait loci in late-onset Alzheimer disease

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12 December 2020

Nurr1 is essential for the induction of the dopaminergic phenotype and the survival of ventral mesencephalic late dopaminergic precursor neurons

1 reference

12 December 2020

A full genome scan for late onset Alzheimer's disease.

1 reference

12 December 2020

Lewy bodies in Alzheimer's disease: a neuropathological review of 145 cases using alpha-synuclein immunohistochemistry.

1 reference

12 December 2020

Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.

1 reference

12 December 2020

Risk factors for late-onset Alzheimer's disease: a population-based, case-control study.

1 reference

12 December 2020

Coexistent tau and amyloid pathology in hereditary frontotemporal dementia with tau mutations.

1 reference

12 December 2020

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

1 reference

12 December 2020

DJ-1 is an indicator for endogenous reactive oxygen species elicited by endotoxin

1 reference

12 December 2020

Alzheimer's disease due to an intronic presenilin-1 (PSEN1 intron 4) mutation: A clinicopathological study.

1 reference

12 December 2020

Family-based tests of association in the presence of linkage

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12 December 2020

Identification of Novel Genes in Late-Onset Alzheimer's Disease

1 reference

12 December 2020

Cre induces an asymmetric DNA bend in its target loxP site.

1 reference

12 December 2020

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

1 reference

12 December 2020

Amyloid deposition precedes tangle formation in a triple transgenic model of Alzheimer's disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in NR4A2 associated with familial Parkinson disease

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12 December 2020

Vesicle permeabilization by protofibrillar alpha-synuclein is sensitive to Parkinson's disease-linked mutations and occurs by a pore-like mechanism.

1 reference

12 December 2020

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

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12 December 2020

Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases.

1 reference

12 December 2020

Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3

1 reference

12 December 2020

Rare genetic mutations shed light on the pathogenesis of Parkinson disease

1 reference

12 December 2020

Multiple-threshold models for genetic influences on age of onset for Alzheimer disease: findings in Swedish twins

1 reference

12 December 2020

Familial aggregation in Alzheimer's disease: comparison of risk among relatives of early-and late-onset cases, and among male and female relatives in successive generations.

1 reference

12 December 2020

Familial Aggregation of Parkinson's Disease in Iceland

1 reference

12 December 2020

beta-amyloid peptides enhance alpha-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease

1 reference

12 December 2020

Significant linkage of Parkinson disease to chromosome 2q36-37

1 reference

12 December 2020

γ-Secretase is a membrane protein complex comprised of presenilin, nicastrin, aph-1, and pen-2

1 reference

12 December 2020

Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14

1 reference

12 December 2020

An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin

1 reference

12 December 2020

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

1 reference

12 December 2020

The role of inheritance in sporadic Parkinson's disease: evidence from a longitudinal study of dopaminergic function in twins.

1 reference

12 December 2020

Human and murine ApoE markedly alters A beta metabolism before and after plaque formation in a mouse model of Alzheimer's disease.

1 reference

12 December 2020

Familial aggregation of Alzheimer disease among whites, African Americans, and Caribbean Hispanics in northern Manhattan.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations

1 reference

12 December 2020

Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design.

1 reference

12 December 2020

Case-control study of the extended tau gene haplotype in Parkinson's disease

1 reference

12 December 2020

Alzheimer's disease in twins

1 reference

12 December 2020

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

1 reference

12 December 2020

Pathogenesis of Parkinson's disease: dopamine, vesicles and alpha-synuclein

1 reference

12 December 2020

A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.

1 reference

12 December 2020

Familial aggregation of Parkinson disease: a comparative study of early-onset and late-onset disease

1 reference

12 December 2020

Alzheimer's disease and Parkinson's disease: distinct entities or extremes of a spectrum of neurodegeneration?

1 reference

12 December 2020

Reduced hippocampal insulin-degrading enzyme in late-onset Alzheimer's disease is associated with the apolipoprotein E-epsilon4 allele

1 reference

12 December 2020

Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo

1 reference

12 December 2020

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects

1 reference

12 December 2020

A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease

1 reference

12 December 2020

Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population

1 reference

12 December 2020

Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases

1 reference

12 December 2020

Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson's disease

1 reference

12 December 2020

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

1 reference

12 December 2020

A susceptibility locus for Parkinson's disease maps to chromosome 2p13.

1 reference

12 December 2020

Assessment of genetic risk for Alzheimer's disease among first-degree relatives

1 reference

12 December 2020

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

1 reference

12 December 2020

Carboxyl-terminal-truncated apolipoprotein E4 causes Alzheimer's disease-like neurodegeneration and behavioral deficits in transgenic mice

1 reference

12 December 2020

No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Human alpha-synuclein-harboring familial Parkinson's disease-linked Ala-53 --> Thr mutation causes neurodegenerative disease with alpha-synuclein aggregation in transgenic mice

1 reference

12 December 2020

Genome-wide linkage disequilibrium mapping of late-onset Alzheimer's disease in Finland.

1 reference

12 December 2020

10.1007/S00439-004-1097-7

Identifiers

DOI

1 reference

9 August 2017

1 reference

PubMed ID

14999561