J. Hardy

Publications1,290
h-index173
Citations163,962
Highly Influential Citations6,339
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The Amyloid Hypothesis of Alzheimer's Disease: Progress and Problems on the Road to Therapeutics
TLDR
It has been more than 10 years since it was first proposed that the neurodegeneration in Alzheimer's disease (AD) may be caused by deposition of amyloid β-peptide in plaques in brain tissue and the rest of the disease process is proposed to result from an imbalance between Aβ production and Aβ clearance.
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
TLDR
In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 × 10−8) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer's disease.
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Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
TLDR
It is demonstrated that in this kindred, which shows linkage to chromosome 21 markers, there is a point mutation in the APP gene that causes an amino-acid substitution close to the carboxy terminus of the β-amyloid peptide.
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Alzheimer's disease: the amyloid cascade hypothesis.
TLDR
An extensive catalog of genes that act in a migrating cell is provided, unique molecular functions involved in nematode cell migration are identified, and similar functions in humans are suggested.
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Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's…
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Diagnosis and management of dementia with Lewy bodies
TLDR
The authors propose a new scheme for the pathologic assessment of LBs and Lewy neurites (LN) using alpha-synuclein immunohistochemistry and semiquantitative grading of lesion density, with the pattern of regional involvement being more important than total LB count.
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The amyloid hypothesis of Alzheimer's disease at 25 years
TLDR
Although many factors contribute to AD pathogenesis, Aβ dyshomeostasis has emerged as the most extensively validated and compelling therapeutic target.
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TREM2 variants in Alzheimer's disease.
TLDR
Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alzheimer's disease.
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alpha-Synuclein locus triplication causes Parkinson's disease.
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