Genetics of Alzheimer’s Disease and Related Disorders

[1]  J. Hardy,et al.  The Amyloid Hypothesis of Alzheimer ’ s Disease : Progress and Problems on the Road to Therapeutics , 2009 .

[2]  K. Gwinn‐Hardy.  Genetics of parkinsonism , 2002, Movement disorders : official journal of the Movement Disorder Society.

[3]  J. Hardy,et al.  Pathways to primary neurodegenerative disease. , 1999, Neurologia.

[4]  R. Nussbaum,et al.  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. , 2001, Human molecular genetics.

[5]  K. Goddard,et al.  The amyloid precursor protein locus and very-late-onset Alzheimer disease. , 2001, American journal of human genetics.

[6]  Makoto Hashimoto,et al.  β-Amyloid peptides enhance α-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[7]  J. Hardy,et al.  Enhanced Neurofibrillary Degeneration in Transgenic Mice Expressing Mutant Tau and APP , 2001, Science.

[8]  Matthew J. Farrer,et al.  α-synuclein gene haplotypes are associated with Parkinson’s disease , 2001 .

[9]  M N Rossor,et al.  Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype , 2001, Neurology.

[10]  M. Owen,et al.  Susceptibility locus for Alzheimer's disease on chromosome 10. , 2000, Science.

[11]  J. Blangero,et al.  Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees. , 2000, Science.

[12]  Wen-Lang Lin,et al.  Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein , 2000, Nature Genetics.

[13]  L. Mucke,et al.  Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders. , 2000, Science.

[14]  B. Winblad,et al.  Tau gene polymorphisms and apolipoprotein E ε4 may interact to increase risk for Alzheimer’s disease , 1999, Neuroscience Letters.

[15]  M. Owen,et al.  Genetic variability at the amyloid-β precursor protein locus may contribute to the risk of late-onset Alzheimer's disease , 1999, Neuroscience Letters.

[16]  R. Krüger,et al.  Increased susceptibility to sporadic Parkinson's disease by a certain combined α‐synuclein/apolipoprotein E genotype , 1999, Annals of neurology.

[17]  D. Selkoe,et al.  Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and γ-secretase activity , 1999, Nature.

[18]  I Litvan,et al.  Association of an extended haplotype in the tau gene with progressive supranuclear palsy. , 1999, Human molecular genetics.

[19]  P. Vieregge,et al.  The Contursi kindred, a large family with autosomal dominant Parkinson's disease: implications of clinical and molecular studies. , 1999, Advances in neurology.

[20]  J. Hardy,et al.  Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau , 1998, Nature Neuroscience.

[21]  Ronald C. Petersen,et al.  Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 , 1998, Nature.

[22]  G. Schellenberg,et al.  Tau is a candidate gene for chromosome 17 frontotemporal dementia , 1998, Annals of neurology.

[23]  H Okazaki,et al.  Hereditary form of parkinsonism—dementia , 1998, Annals of neurology.

[24]  Robert Shapley,et al.  Visual cortex: pushing the envelope , 1998, Nature Neuroscience.

[25]  B. Ghetti,et al.  Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17: A New Group of Tauopathies , 1998, Brain pathology.

[26]  Hugo Vanderstichele,et al.  Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein , 1998, Nature.

[27]  C. van Broeckhoven,et al.  Presenilin mutations in Alzheimer's disease , 1998, Human mutation.

[28]  J. Hardy,et al.  Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes , 1998, Nature Medicine.

[29]  M. Farrer,et al.  Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21–22 , 1997, Annals of neurology.

[30]  S. Paul,et al.  Lack of apolipoprotein E dramatically reduces amyloid β-peptide deposition , 1997, Nature Genetics.

[31]  D. Borchelt,et al.  Accelerated Amyloid Deposition in the Brains of Transgenic Mice Coexpressing Mutant Presenilin 1 and Amyloid Precursor Proteins , 1997, Neuron.

[32]  M. L. Schmidt,et al.  α-Synuclein in Lewy bodies , 1997, Nature.

[33]  Robert L. Nussbaum,et al.  Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease , 1997 .

[34]  N L Foster,et al.  Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference , 1997, Annals of neurology.

[35]  L. Thal,et al.  Genetic evidence for the involvement of τ in progressive supranuclear palsy , 1997, Annals of neurology.

[36]  Weiming Xia,et al.  Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice , 1997, Nature Medicine.

[37]  M. Polymeropoulos,et al.  Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23 , 1996, Science.

[38]  Allan I. Levey,et al.  Familial Alzheimer's Disease–Linked Presenilin 1 Variants Elevate Aβ1–42/1–40 Ratio In Vitro and In Vivo , 1996, Neuron.

[39]  S. Younkin,et al.  Correlative Memory Deficits, Aβ Elevation, and Amyloid Plaques in Transgenic Mice , 1996, Science.

[40]  G. Schellenberg,et al.  Secreted amyloid β–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 , 1996, Nature Medicine.

[41]  J. Rommens,et al.  Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene , 1995, Nature.

[42]  E M Wijsman,et al.  A familial Alzheimer's disease locus on chromosome 1 , 1995, Science.

[43]  G. Schellenberg,et al.  Candidate gene for the chromosome 1 familial Alzheimer's disease locus , 1995, Science.

[44]  D. Pollen,et al.  Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease , 1995, Nature.

[45]  L. Mucke,et al.  Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein , 1995, Nature.

[46]  M. Adams,et al.  The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families , 1995, Nature Genetics.

[47]  K. Wilhelmsen,et al.  Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. , 1994, American journal of human genetics.

[48]  S. Younkin,et al.  An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants. , 1994, Science.

[49]  S. Younkin,et al.  Release of excess amyloid beta protein from a mutant amyloid beta protein precursor. , 1993, Science.

[50]  D. Selkoe,et al.  Mutation of the β-amyloid precursor protein in familial Alzheimer's disease increases β-protein production , 1992, Nature.

[51]  J. Hardy,et al.  A locus for familial early–onset Alzhelmer's disease on the long arm of chromosome 14, proximal to the α1–antichymotrypsin gene , 1992, Nature Genetics.

[52]  C. Broeckhoven,et al.  Mapping of a gene predisposing to early–onset Alzheimer's disease to chromosome 14q24.3 , 1992, Nature Genetics.

[53]  D. Pollen,et al.  Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14 , 1992, Nature Genetics.

[54]  J. Weber,et al.  Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. , 1992, Science.

[55]  D. Selkoe,et al.  Amyloid β-peptide is produced by cultured cells during normal metabolism , 1992, Nature.

[56]  J. Hardy,et al.  Alzheimer's disease: the amyloid cascade hypothesis. , 1992, Science.

[57]  J. Hardy,et al.  Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene , 1991, Nature.

[58]  B. Ghetti,et al.  A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. , 1991, Science.

[59]  D. Selkoe.  The molecular pathology of Alzheimer's disease , 1991, Neuron.

[60]  M. Pericak-Vance,et al.  Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease , 1991, Nature.

[61]  J. Hardy,et al.  Amyloid deposition as the central event in the aetiology of Alzheimer's disease. , 1991, Trends in pharmacological sciences.

[62]  I. Rainero,et al.  Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder , 1990, Nature.

[63]  I. Lieberburg,et al.  Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. , 1990, Science.

[64]  J. Hardy,et al.  Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). , 1990, Science.

[65]  S. M. Sumi,et al.  Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease. , 1988, Science.

[66]  J. Haines,et al.  The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid β-protein gene , 1987, Nature.

[67]  C. Broeckhoven,et al.  Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families , 1987, Nature.

[68]  S. V. van Duinen,et al.  Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[69]  D. G. George,et al.  Nucleic Acid database management. , 1987, Science.

[70]  D. Pollen,et al.  The genetic defect causing familial Alzheimer's disease maps on chromosome 21. , 1987, Science.

[71]  K. Grzeschik,et al.  The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor , 1987, Nature.

[72]  G. Glenner,et al.  Alzheimer's disease and Down's syndrome: sharing of a unique cerebrovascular amyloid fibril protein. , 1984, Biochemical and biophysical research communications.

[73]  G. Glenner,et al.  Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein , 1984 .