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0000 0001 1742 0077
Hardy, J A
Hardy, John A.
Hardy, John Anthony
John Hardy (British geneticist)
John Hardy (généticien)
Christen, Yves (1948-....))
Congrès (1987 ; Chateau d'Entrecasteaux, Provence)
Cummings, Jeffrey L. (1948-....))
Dickson, Dennis W.
Frost, Alan (1943-....))
Mizuno, Yoshikuni (1941- ))
Poncet, Michel (1938-....))
University College London
A53T alpha -Synuclein Mutation Increases Iron-Dependent Aggregation and Toxicity, The
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased A beta 42 secretion
Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes.
Advances and perspectives from genetic research: development of biological markers in Alzheimer's disease.
Alpha-2 macroglobulin gene and Alzheimer disease.
alpha-Synuclein gene haplotypes are associated with Parkinson's disease.
alpha-Synuclein locus triplication causes Parkinson's disease.
alpha-Synuclein shares physical and functional homology with 14-3-3 proteins.
Alzheimer disease PS-1 exon 9 deletion defined.
Alzheimer family of diseases: Many etiologies, one pathogenesis?, The
Alzheimer's disease: genetic evidence points to a single pathogenesis.
Alzheimer's disease: the amyloid cascade hypothesis: an update and reappraisal.
amyloid hypothesis for Alzheimer's disease: a critical reappraisal, The
amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics., The
Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.
Analysis of tau haplotypes in Pick's disease.
Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Antisense-induced reduction of presenilin 1 expression selectively increases the production of amyloid beta42 in transfected cells.
APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity.
Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations.
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
architecture of the tau haplotype block in different ethnicities., The
Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD.
Association of ABCA1 with late-onset Alzheimer's disease is not observed in a case-control study.
Association of an extended haplotype in the tau gene with progressive supranuclear palsy.
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals
Association of integrin alpha2 gene variants with ischemic stroke.
Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts.
association study of a functional catalase gene polymorphism, -262C-->T, and patients with Alzheimer's disease., An
association study of the cholesteryl ester transfer protein TaqI B polymorphism with late onset Alzheimer's disease., An
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
Bad luck: an unappreciated limitation in the interpretation of twin studies.
BDNF val66met polymorphism is not associated with late onset Alzheimer's disease in three case-control samples, The
beta peptide vaccination prevents memory loss in an animal model of Alzheimer's disease., A
Biological markers for therapeutic trials in Alzheimer's disease. Proceedings of the biological markers working group; NIA initiative on neuroimaging in Alzheimer's disease.
Candidate gene polymorphisms for ischemic stroke.
Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease.
Case-control study of estrogen receptor gene polymorphisms in Parkinson's disease
Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease.
case of dementia with PRNP D178Ncis-129M and no insomnia., A
Characteristics of frontotemporal dementia patients with a Progranulin mutation
Characterization of PLA2G6 as a locus for dystonia-parkinsonism.
CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation.
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.
Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations.
Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation
clinical and pathological study of motor neurone disease on Guam., A
Cloning of a Gene for Parkinsonism on Chromosome 4P
Co-association of parkin and alpha -synuclein
Co-ordinate transcriptional regulation of dopamine synthesis genes by alpha -synuclein in human neuroblastoma cell lines
common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan., A
Common genetic variation within the Low-Density Lipoprotein Receptor-Related Protein 6 and late-onset Alzheimer's disease
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
Comparing spatial maps of human population-genetic variation using Procrustes analysis.
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece.
Complex interactions in Parkinson's disease: a two-phased approach.
Complex relationship between Parkin mutations and Parkinson disease.
Complicated recessive dystonia parkinsonism syndromes.
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
Correlations Between Apolipoprotein E epsilon 4 Gene Dose and Whole Brain Atrophy Rates
Correlations between apolipoprotein E epsilon4 gene dose and brain-imaging measurements of regional hypometabolism.
Corticobasal Degeneration and Frontotemporal Dementia Presentations in a Kindred with Nonspecific Histopathology
Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype.
Cotton Wool Plaques in Non-Familial Late-Onset Alzheimer Disease
CR1 is associated with amyloid plaque burden and age-related cognitive decline.
D21S194, a jump clone from D21S16
DAPK1 variants are associated with Alzheimer's disease and allele-specific expression
Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease.
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
Dementia with Lewy bodies: no association of polymorphisms in the human synphilin gene
Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium.
Differential DJ-1 gene expression in Parkinson's disease.
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21
DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers.
Does A beta 42 Have a Function Related to Blood Homeostasis?
Does Abeta 42 have a function related to blood homeostasis?
Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease.
Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo.
Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP.
Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
Ethnic differences and disease phenotypes.
Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.
etiopathogenesis of Parkinson disease and suggestions for future research. Part I., The
etiopathogenesis of Parkinson disease and suggestions for future research. Part II., The
European voyaging towards Australia : [papers presented at an international colloquium held at the Chateau d'Entrecasteaux, 1987]
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation.
Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens.
Evidence suggesting that Homo neanderthalensis contributed the H2 MAPTT haplotype to Homo sapiens
Evolutionary toggling of the MAPT 17q21.31 inversion region.
Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism.
Expression of DJ-1 (PARK7) in Normal Human CNS and Idiopathic Parkinson's Disease, The
Expression of normal sequence pathogenic proteins for neurodegenerative disease contributes to disease risk: `permissive templating' as a general mechanism underlying neurodegeneration
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease.
Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.
Frontal temporal dementia: dissecting the aetiology and pathogenesis
Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis.
full genome scan for late onset Alzheimer's disease., A
Full genome screen for Alzheimer disease: Stage II analysis
Functional association of the parkin gene promoter with idiopathic Parkinson's disease
Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia
Functional characterization of three single-nucleotide polymorphisms present in the human APOE promoter sequence: Differential effects in neuronal cells and on DNA-protein interactions.
Future of Genetic Analysis of Neurological Disorders, The
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
Gaucher and Parkinson diseases: unexpectedly related.
Genes and environment in psychiatry: winner's curse or cure?
Genes and parkinsonism.
Genetic Analysis of Pathways to Parkinson Disease
genetic and pathological classification of familial frontotemporal dementia., The
Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease
Genetic classification of primary neurodegenerative disease
Genetic Control of Human Brain Transcript Expression in Alzheimer Disease
Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau.
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Genetic studies on chromosome 12 in late-onset Alzheimer disease.
Genetic variability at the amyloid- beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease
Genetic variability in expression of proteins and the risk of sporadic neurologic diseases.
GENETICS AND MOLECULAR BIOLOGY OF PARKINSONISM
Genetics of Alzheimer's disease.
genetics of neurodegenerative diseases., The
Genetics of Parkinson's disease and parkinsonism.
genetics of Parkinson's syndromes: a critical review., The
Genome-wide analysis of the parkinsonism-dementia complex of Guam.
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Genome-wide association study reveals genetic risk underlying Parkinson's disease
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release., A
Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease
Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease.
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.
Genomewide association studies and human disease.
Genotype, haplotype and copy-number variation in worldwide human populations.
Genotype-imputation accuracy across worldwide human populations.
Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases.
Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy.
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Green Tea Epigallocatechin-3-Gallate (EGCG) Modulates Amyloid Precursor Protein Cleavage and Reduces Cerebral Amyloidosis in Alzheimer Transgenic Mice
H1c haplotype at the MAPT locus is associated with Alzheimer's disease, The
HapMap: charting a course for genetic discovery in neurological diseases., The
Has the Amyloid Cascade Hypothesis for Alzheimer's Disease been Proved?
Healthcare utilization and costs in managed care patients with Alzheimer's disease during the last few years of life.
heritability and genetics of frontotemporal lobar degeneration., The
Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.
human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3., The
Hundred Years of Alzheimer's Disease Research, A
Identification and characterization of the human parkin gene promoter
Identification of Alzheimer risk factors through whole-genome analysis.
IL1RN VNTR Polymorphism in Ischemic Stroke: Analysis in 3 Populations
Impact of genetic analysis on Parkinson's disease research.
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1.
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene
Insulin-degrading enzyme haplotypes affect insulin levels but not dementia risk.
Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential?
Is amyloid plaque imaging the key to monitoring brain pathology of Alzheimer's disease in vivo?
Ischemic Stroke Genetics Study (ISGS) Protocol., The
Jane Austen's heroines : Intimacy in human relationships
Lack of aggregation of ischemic stroke subtypes within affected sibling pairs
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease.
law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases., The
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration.
Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.
MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts, The
MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia, A
Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation.
Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics
Mendelian disorders and multifactorial traits: the big divide or one for all?
Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA.
[Microsurgery of the trigeminal nerve: functional anatomy].
Modelling the occurrence and pathology of Alzheimer's disease.
Molecular genetics of Alzheimer's disease.
Mononucleotide repeat polymorphism in the APP gene
MORRIS K. UDALL PARKINSONS DISEASE RESEARCH CENTER OF EX
Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID)
Mutation at the SCA17 locus is not a common cause of parkinsonism.
Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis
Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein.
Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein.
Neurological diagnoses identify molecular processes.
Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria
new way APP mismetabolism can lead to Alzheimer's disease., A
No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease.
No association between the lipoprotein lipase S447X polymorphism and Alzheimer's disease.
No definitive evidence for a role for the environment in the etiology of Parkinson's Disease
No pathogenic mutations in the persyn gene in Parkinson's disease
Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia
novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease, A
novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies., A
Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases.
Number of A beta Inoculations in APP+PS1 Transgenic Mice Influences Antibody Titers, Microglial Activation, and Congophilic Plaque Levels
Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene.
PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval., The
Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons
Parkin-proven disease: common founders but divergent phenotypes.
Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome.
Parkin variants in North American Parkinson's disease: Cases and controls
Parkinson's disease: a broken nosology.
Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations.
Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.
Pathways to primary neurodegenerative disease.
Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke
Pick's disease is associated with mutations in the tau gene.
polymorphic microsatellite repeat sequence on chromosome 21 (D21S80), A
Polymorphism in AACT gene may lower age of onset of Alzheimer's disease.
Possible association between genetic variability at the apolipoprotein(a) locus and Alzheimer's disease in apolipoprotein E2 carriers.
Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child.
presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch., A
presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis, A
Presenilin mutations line up along transmembrane alpha -helices
Prion genotypes in Central America suggest selection for the V129 allele.
Problems and solutions in the genetic analysis of late-onset Alzheimer's disease.
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia.
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes
Protected to Death
Putting presenilins centre stage. Introduction to the Talking Point on the role of presenilin mutations in Alzheimer disease
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
Relationship between Amyloid and Tau, The
relationship between Lewy body disease, Parkinson's disease, and Alzheimer's disease., The
Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy.
Reporting and interpretation of genetic variants in cases and controls.
Sample tracking and use in published genome-wide association studies.
SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia
SCA2 may present as levodopa-responsive parkinsonism.
scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease., A
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.
Sensitization of Neuronal Cells to Oxidative Stress with Mutated Human alpha -Synuclein
Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.
Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.
Siblings With Ischemic Stroke Study (SWISS) protocol., The
simple and efficient algorithm for genome-wide homozygosity analysis in disease., A
SNCA variants are associated with increased risk for multiple system atrophy.
SPECIAL ISSUE REVIEW: The genetics of neurodegenerative diseases
Structural genomic variation in ischemic stroke
structure of the tau haplotype in controls and in progressive supranuclear palsy., The
Studies from Terra Australis to Australia
survey of genetic human cortical gene expression, A
Susceptibility locus for Alzheimer's disease on chromosome 10.
Tangle diseases and the tau haplotypes.
tau H2 haplotype is almost exclusively Caucasian in origin., The
tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's disease., The
Testing times for the "amyloid cascade hypothesis".
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
thorough assessment of benign genetic variability in GRN and MAPT., A
Toward Alzheimer therapies based on genetic knowledge.
Towards a complete resolution of the genetic architecture of disease.
Truncated presenilin 2 derived from differentially spliced mRNAs does not affect the ratio of amyloid beta -peptide 1-42/1-40
two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis., A
Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations.
: What Is a Schizophrenic Mouse?
Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21.
Whole genome analysis in a consanguineous family with early onset Alzheimer's disease.
Whole genome association studies: deciding when persistence becomes perseveration.
Whole genome expression as a quantitative trait.
Widespread alterations of alpha-synuclein in multiple system atrophy.
Contributed to or performed:
ACTA NEUROLOGICA SCANDINAVICA SUPPLEMENTUM
ANNALS OF NEUROLOGY
University College London website, seen 13 March 2015 (Prof John Hardy, Professor of Neuroscience) http://www.ucl.ac.uk/rlweston-inst/people/john