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1. Full Text The genetics and neuropathology of Alzheimer's disease
by Schellenberg, Gerard D and Montine, Thomas J
Acta Neuropathologica, ISSN 0001-6322, 09/2012, Volume 124, Issue 3, pp. 305 - 323
Here we review the genetic causes and risks for Alzheimer's disease (AD). Early work identified mutations in three genes that cause AD: APP, PSEN1 and PSEN2.... 
Genetics | Genome-wide association studies | Neuropathology | Alzheimer's disease | APP LOCUS DUPLICATION | AMYLOID PRECURSOR PROTEIN | PATHOLOGY | APOLIPOPROTEIN-E GENOTYPE | NEUROSCIENCES | COTTON WOOL PLAQUES | CLINICAL NEUROLOGY | PRESENILIN-1 MUTATION | BETA-PROTEIN | HEREDITARY CEREBRAL-HEMORRHAGE | SINGLE-NUCLEOTIDE POLYMORPHISMS | LEWY BODIES | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease | Amyloid beta-Protein Precursor - genetics | Presenilin-2 - genetics | Apolipoproteins E - genetics | Humans | Brain - pathology | Presenilin-1 - genetics | Polymorphism, Single Nucleotide | Mutation | Alzheimer Disease - genetics | Alzheimer Disease - pathology | Amino acids | Single nucleotide polymorphisms | Analysis | Genomics | Innovations | Neurodegenerative diseases | Cognitive ability | Data processing | Genomes | Single-nucleotide polymorphism | Amyloid precursor protein | Risk factors | Molecular modelling | Reviews | Apolipoprotein E | genomics
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2. Full Text GWAS of cerebrospinal fluid tau levels identifies risk variants for alzheimer's disease
by Cruchaga, Carlos and Kauwe, John S.K and Harari, Oscar and Jin, Sheng Chih and Cai, Yefei and Karch, Celeste M and Benitez, Bruno A and Jeng, Amanda T and Skorupa, Tara and Carrell, David and Bertelsen, Sarah and Bailey, Matthew and McKean, David and Shulman, Joshua M and De Jager, Philip L and Chibnik, Lori and Bennett, David A and Arnold, Steve E and Harold, Denise and Sims, Rebecca and Gerrish, Amy and Williams, Julie and Van Deerlin, Vivianna M and Lee, Virginia M.-Y and Shaw, Leslie M and Trojanowski, John Q and Haines, Jonathan L and Mayeux, Richard and Pericak-Vance, Margaret A and Farrer, Lindsay A and Schellenberg, Gerard D and Peskind, Elaine R and Galasko, Douglas and Fagan, Anne M and Holtzman, David M and Morris, John C and Goate, Alison M and ADGC and GERAD Consortium and ADNI and Alzheimer’s Disease Neuroimaging Initiative (ADNI) and Alzheimer Disease Genetic Consortium (ADGC)
Neuron, ISSN 0896-6273, 04/2013, Volume 78, Issue 2, pp. 256 - 268
Cerebrospinal fluid (CSF) tau, tau phosphorylated at threonine 181 (ptau), and Aβ are established biomarkers for Alzheimer@s disease (AD) and have been used as... 
BIOMARKERS | DIAGNOSIS | PROTEIN | PHOSPHORYLATION | CSF | A-BETA | NEUROPATHOLOGY | ASSOCIATION | EXPRESSION | NEUROSCIENCES | SINGLE-NUCLEOTIDE POLYMORPHISMS | Phosphorylation | Humans | Middle Aged | Male | Case-Control Studies | Aged, 80 and over | Amyloid beta-Peptides - cerebrospinal fluid | Female | Genome-Wide Association Study | Peptide Fragments - cerebrospinal fluid | Risk Factors | Genotype | tau Proteins - cerebrospinal fluid | Transcription Factors - genetics | Alzheimer Disease - cerebrospinal fluid | Serine - metabolism | Chromosomes, Human, Pair 6 - genetics | Membrane Glycoproteins - genetics | Muscle Proteins - genetics | Phenotype | Apolipoproteins E - genetics | Polymorphism, Single Nucleotide - genetics | Aged | Alzheimer Disease - genetics | Receptors, Immunologic - genetics | Chromosomes, Human, Pair 3 - genetics | Alzheimer's disease | Risk factors | Amyloid beta-protein | Studies | Biomarkers | Genomes | Alzheimers disease | Religious orders
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3. Full Text Common polygenic variation enhances risk prediction for Alzheimer's disease
by Escott-Price, Valentina and Sims, Rebecca and Bannister, Christian and Harold, Denise and Vronskaya, Maria and Majounie, Elisa and Badarinarayan, Nandini and Morgan, Kevin and Passmore, Peter and Holmes, Clive and Powell, John and Brayne, Carol and Gill, Michael and Mead, Simon and Goate, Alison and Cruchaga, Carlos and Lambert, Jean-Charles and Van Duijn, Cornelia and Maier, Wolfgang and Ramirez, Alfredo and Holmans, Peter and Jones, Lesley and Hardy, John and Seshadri, Sudha and Schellenberg, Gerard D and Amouyel, Philippe and Williams, Julie and GERAD PERADES and IGAP Consortia and GERAD/PERADES and IGAP consortia
Brain, ISSN 0006-8950, 12/2015, Volume 138, Issue 12, pp. 3673 - 3684
The identification of subjects at high risk for Alzheimer's disease is important for prognosis and early intervention. We investigated the polygenic... 
Alzheimer's disease | polygenic score | predictive model | PARKINSON DISEASE | SCHIZOPHRENIA | LOCI | CLU | NEUROSCIENCES | CLINICAL NEUROLOGY | CD2AP | IDENTIFIES VARIANTS | EPHA1 | ONSET | CD33 | GENOME-WIDE ASSOCIATION | Multifactorial Inheritance - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Genetic Testing | Humans | Genotype | Logistic Models | Risk | Case-Control Studies | Apolipoproteins E - genetics | Alleles | ROC Curve | Genetic Variation - genetics | Alzheimer Disease - genetics
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4. Full Text One for all and all for One: Improving replication of genetic studies through network diffusion
by Lancour, Daniel and Naj, Adam and Mayeux, Richard and Haines, Jonathan L and Pericak-Vance, Margaret A and Schellenberg, Gerard C and Crovella, Mark and Farrer, Lindsay A and Kasif, Simon
PLoS Genetics, ISSN 1553-7390, 04/2018, Volume 14, Issue 4, p. e1007306
Improving accuracy in genetic studies would greatly accelerate understanding the genetic basis of complex diseases. One approach to achieve such an improvement... 
METAANALYSIS | VARIANTS | GENOTYPE IMPUTATION | ALZHEIMERS-DISEASE | GENETICS & HEREDITY | LOCI | MUTATIONS | EXPRESSION | IMPLICATE | ONSET | GENOME-WIDE ASSOCIATION | Genome-Wide Association Study | Reproducibility of Results | Datasets as Topic | Humans | Risk Factors | Alzheimer Disease - metabolism | Support Vector Machine | Alzheimer Disease - genetics | Protein Interaction Maps | Genome-wide association studies | Research | Genetic susceptibility | Methods | Laboratories | Funding | Genomics | Genomes | Epidemiology | Risk factors | Datasets | Proteins | Consortia | Genotype & phenotype | Aging | Genetics | Bioinformatics | Alzheimer's disease | Supervision | Public health | Immune response | Neurodegenerative diseases | Medicine | Studies | Acids | Replication | Alzheimers disease | Health risk assessment | PTPN2 protein
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5. Full Text Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations
by Rajabli, Farid and Rajabli, Farid and Feliciano, Briseida E and Celis, Katrina and Hamilton-Nelson, Kara L and Whitehead, Patrice L and Adams, Larry D and Bussies, Parker L and Manrique, Clara P and Rodriguez, Alejandra and Rodriguez, Vanessa and Starks, Takiyah and Starks, Takiyah and Byfield, Grace E and Byfield, Grace E and Sierra Lopez, Carolina B and McCauley, Jacob L and Acosta, Heriberto and Chinea, Angel and Kunkle, Brian W and Kunkle, Brian W and Reitz, Christiane and Reitz, Christiane and Farrer, Lindsay A and Farrer, Lindsay A and Schellenberg, Gerard D and Vardarajan, Badri N and Vardarajan, Badri N and Vance, Jeffery M and Vance, Jeffery M and Cuccaro, Michael L and Martin, Eden R and Haines, Jonathan L and Haines, Jonathan L and Byrd, Goldie S and Byrd, Goldie S and Beecham, Gary W and Pericak-Vance, Margaret A and Kunkle, Brian W
PLoS genetics, ISSN 1553-7390, 12/2018, Volume 14, Issue 12, p. e1007791
The ApoE ε4 allele is the most significant genetic risk factor for late-onset Alzheimer disease. The risk conferred by ε4, however, differs across populations,... 
Genetics, Population | Genome-Wide Association Study | Hispanic Americans - genetics | Puerto Rico - ethnology | Apolipoprotein E4 - genetics | Gene Frequency | Humans | Risk Factors | African Americans - genetics | Male | Case-Control Studies | Genetic Variation | Aged, 80 and over | Female | Aged | Alzheimer Disease - genetics | Funding | Genomics | African Americans | Genomes | Epidemiology | Population genetics | Risk factors | Consortia | Apolipoprotein E | Aging | Genetics | Genetic factors | Alzheimer's disease | Genotypes | Departments | Neurodegenerative diseases | Principal components analysis | Environmental factors | Genetic diversity | Apolipoproteins | Generalized linear models | Medicine | Neurology | Alleles | Surgeons | Psychiatry
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6. Full Text Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease
by Baker, Emily and Sims, Rebecca and Leonenko, Ganna and Frizzati, Aura and Harwood, Janet C and Grozeva, Detelina and Morgan, Kevin and Passmore, Peter and Holmes, Clive and Powell, John and Brayne, Carol and Gill, Michael and Mead, Simon and Bossù, Paola and Spalletta, Gianfranco and Goate, Alison M and Cruchaga, Carlos and Maier, Wolfgang and Heun, Reinhard and Jessen, Frank and Peters, Oliver and Dichgans, Martin and FröLich, Lutz and Ramirez, Alfredo and Jones, Lesley and Hardy, John and Ivanov, Dobril and Hill, Matthew and Holmans, Peter and Allen, Nicholas D and Morgan, B. Paul and Seshadri, Sudha and Schellenberg, Gerard D and Amouyel, Philippe and Williams, Julie and Escott-Price, Valentina and GERAD/PERADES and EADI and CHARGE and ADGC and IGAP consortia
PLOS ONE, ISSN 1932-6203, 07/2019, Volume 14, Issue 7, p. e0218111
Late onset Alzheimer’s disease is the most common form of dementia for which about 30 susceptibility loci have been reported. The aim of the current study is... 
Energy metabolism | Neurosciences | Laboratories | Genomics | Genes | DNA damage | Psychotherapy | Genomes | Single-nucleotide polymorphism | Nucleotides | DNA repair | Gene polymorphism | Consortia | Proteins | Neurodegeneration | Dementia disorders | Genetics | Life sciences | Lipid metabolism | Genotypes | Deoxyribonucleic acid--DNA | Public health | Plaques | Circadian rhythms | Medical research | Signs and symptoms | Centrosomes | Rhythm | Metabolism | Gene expression | Loci | Cholesterol | Medicine | Neurology | Hospitals | Councils | Psychiatry | Polymorphism | Dementia | Deoxyribonucleic acid | DNA
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7. Full Text Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease
by Baker, E and Sims, R and Leonenko, G and Frizzati, A and Harwood, JC and Grozeva, D and Morgan, K and Passmore, P and Holmes, C and Powell, J and Brayne, C and Gill, M and Mead, S and Bossu, P and Spalletta, G and Goate, AM and Maier, W and Heun, R and Jessen, F and Peters, O and Dichgans, M and FroLich, L and Ramirez, A and Jones, L and Hardy, J and Ivanov, D and Hill, M and Holmans, P and Allen, ND and Morgan, BP and Seshadri, S and Schellenberg, GD and Amouyel, P and Williams, J and Escott-Price, V and IGAP Consortia and GERAD PERADES Consortia and ADGC Consortia and EADI Consortia and CHARGE Consortia and GERAD/PERADES and EADI and CHARGE and ADGC and IGAP consortia
PLOS ONE, ISSN 1932-6203, 07/2019, Volume 14, Issue 7, p. e0218111
Late onset Alzheimer's disease is the most common form of dementia for which about 30 susceptibility loci have been reported. The aim of the current study is... 
COMMON VARIANTS | IMMUNITY | PGC-1-ALPHA | ANNOTATION | MULTIDISCIPLINARY SCIENCES | ALPHA | GENERATION | DIFFERENTIATION | ZNF423 | BRAIN | CD2AP | Genome-wide association studies | Genes | Genetic aspects | Single nucleotide polymorphisms | Alzheimer's disease | Health aspects | Identification and classification
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8. Full Text Inferring the Molecular Mechanisms of Noncoding Alzheimer’s Disease-Associated Genetic Variants
by Amlie-Wolf, Alexandre and Tang, Mitchell and Way, Jessica and Dombroski, Beth and Jiang, Ming and Vrettos, Nicholas and Chou, Yi-Fan and Zhao, Yi and Kuzma, Amanda and Mlynarski, Elisabeth E and Leung, Yuk Yee and Brown, Christopher D and Wang, Li-San and Schellenberg, Gerard D
Journal of Alzheimer's Disease, ISSN 1387-2877, 10/2019, Volume 72, Issue 1, pp. 301 - 318
Most of the loci identified by genome-wide association studies (GWAS) for late-onset Alzheimer’s disease (LOAD) are in strong linkage disequilibrium (LD) with... 
Target recognition | Statistical analysis | Downstream effects | Genes | Genomics | Linkage disequilibrium | Genetic diversity | Ribonucleic acid--RNA | Gene expression | Tissues | Loci | Biological activity | Genetic variance | Enhancers | Biological effects | Algorithms | Molecular modelling | Apolipoprotein E | Regulatory mechanisms (biology) | Localization | Bayesian analysis
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9. Full Text Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants
by Rehker, J and Rodhe, J and Nesbitt, RR and Boyle, EA and Martin, BK and Lord, J and Karaca, I and Naj, A and Jessen, F and Helisalmi, S and Soininen, H and Hiltunen, M and Ramirez, A and Scherer, M and Farrer, LA and Haines, JL and Pericak-Vance, MA and Raskind, WH and Cruchaga, C and Schellenberg, GD and Joseph, B and Brkanac, Z
PLOS ONE, ISSN 1932-6203, 10/2017, Volume 12, Issue 10, pp. e0185777 - e0185777
The accumulation of amyloid beta (A beta) peptide (Amyloid cascade hypothesis), an APP protein cleavage product, is a leading hypothesis in the etiology of... 
NEURONAL APOPTOSIS | GENE | MULTIDISCIPLINARY SCIENCES | TREM2 DEFICIENCY | AMYLOID PRECURSOR PROTEIN | CODING VARIANTS | MISSENSE MUTATIONS | MOUSE MODELS | NON-APOPTOTIC ROLES | CELL-DEATH | BETA | Genetic Predisposition to Disease | Genetic Association Studies | Gene Frequency | Humans | Caspase 8 - metabolism | Case-Control Studies | Caspase 8 - genetics | Genetic Variation | Alleles | Alzheimer Disease - metabolism | Cell Line, Tumor | Neurons - metabolism | Alzheimer Disease - genetics | Care and treatment | Genes | Nervous system | Degeneration | Research | Alzheimer's disease | Risk factors | Index Medicus
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10. Full Text Sex differences in the genetic predictors of Alzheimer's pathology
by Dumitrescu, L and Barnes, LL and Thambisetty, M and Beecham, G and Kunkle, B and Bush, WS and Gifford, KA and Chibnik, LB and Mukherjee, S and De Jager, PL and Kukull, W and Crane, PK and Resnick, SM and Keene, CD and Montine, TJ and Schellenberg, GD and Deming, Y and Chao, MJ and Huentelman, M and Martin, ER and Hamilton-Nelson, K and Shaw, LM and Trojanowski, JQ and Peskind, ER and Cruchaga, C and Pericak-Vance, MA and Goate, AM and Cox, NJ and Haines, JL and Zetterberg, H and Blennow, K and Larson, EB and Johnson, SC and Albert, M and Bennett, DA and Schneider, JA and Jefferson, AL and Hohman, TJ and Alzheimers Dis Neuroimaging Initia and Alzheimers Dis Genetics Consortium and Alzheimer’s Disease Genetics Consortium and the Alzheimer’s Disease Neuroimaging Initiative and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
BRAIN, ISSN 0006-8950, 09/2019, Volume 142, Issue 9, pp. 2581 - 2589
Autopsy measures of Alzheimer's disease neuropathology have been leveraged as endophenotypes in previous genome-wide association studies (GWAS). However,... 
DIAGNOSIS | GUIDELINES | tau | RISK | NEUROSCIENCES | CLINICAL NEUROLOGY | beta-amyloid | NATIONAL INSTITUTE | COGNITIVE DECLINE | genome-wide association study | DISEASE | HAPLOTYPE | Alzheimer's disease | EXPRESSION | neuropathology | GENOME-WIDE ASSOCIATION | Neurosciences | Neurovetenskaper
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11. Full Text Polygenic hazard score, amyloid deposition and Alzheimer's neurodegeneration
by Tan, Chin Hong and Bonham, Luke W and Fan, Chun Chieh and Mormino, Elizabeth C and Sugrue, Leo P and Broce, Iris J and Hess, Christopher P and Yokoyama, Jennifer S and Rabinovici, Gil D and Miller, Bruce L and Yaffe, Kristine and Schellenberg, Gerard D and Kauppi, Karolina and Holland, Dominic and McEvoy, Linda K and Kukull, Walter A and Tosun, Duygu and Weiner, Michael W and Sperling, Reisa A and Bennett, David A and Hyman, Bradley T and Andreassen, Ole A and Dale, Anders M and Desikan, Rahul S and Alzheimers Dis Neuroimaging and Alzheimer’s Disease Neuroimaging Initiative
Brain, ISSN 0006-8950, 02/2019, Volume 142, Issue 2, pp. 460 - 470
Tan et al. demonstrate that an Alzheimer's disease polygenic hazard score predicts regional amyloid PET deposition and longitudinal cortical atrophy, and is... 
cerebrovascular disease | DEMENTIA | RISK PREDICTION | neurodegeneration | RUSH MEMORY | NEUROSCIENCES | CLINICAL NEUROLOGY | amyloid | CORTICAL THICKNESS | CORTEX | COMPOSITE SCORE | polygenic hazard score | Lewy body
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12. Full Text Sex-specific genetic predictors of Alzheimer's disease biomarkers
by Deming, Y and Dumitrescu, L and Barnes, LL and Thambisetty, M and Kunkle, B and Gifford, KA and Bush, WS and Chibnik, LB and Mukherjee, S and De Jager, PL and Kukull, W and Huentelman, M and Crane, PK and Resnick, SM and Keene, CD and Montine, TJ and Schellenberg, GD and Haines, JL and Zetterberg, H and Blennow, K and Larson, EB and Johnson, SC and Albert, M and Moghekar, A and del Aguila, JL and Fernandez, MV and Budde, J and Hassenstab, J and Fagan, AM and Riemenschneider, M and Petersen, RC and Minthon, L and Chao, MJ and Van Deerlin, VM and Lee, VMY and Shaw, LM and Trojanowski, JQ and Peskind, ER and Li, G and Davis, LK and Sealock, JM and Cox, NJ and Goate, AM and Bennett, DA and Schneider, JA and Jefferson, AL and Cruchaga, C and Hohman, TJ and Alzheimer's Dis Neuroimaging and Alzheimer Dis Genetics C and Alzheimer’s Disease Neuroimaging Initiative (ADNI) and Alzheimer Disease Genetics Consortium (ADGC) and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
ACTA NEUROPATHOLOGICA, ISSN 0001-6322, 12/2018, Volume 136, Issue 6, pp. 857 - 872
Cerebrospinal fluid (CSF) levels of amyloid- 42 (A42) and tau have been evaluated as endophenotypes in Alzheimer's disease (AD) genetic studies. Although there... 
SURFACE-BASED ANALYSIS | Alzheimer disease | Neuropathology | Tau | COGNITIVE IMPAIRMENT | RISK | HYPOTHETICAL MODEL | PATHOLOGY | APOLIPOPROTEIN-E GENOTYPE | CEREBROSPINAL-FLUID | Sex difference | NEUROSCIENCES | CLINICAL NEUROLOGY | MEMORY | COMPOSITE SCORE | Cerebrospinal fluid biomarkers | Amyloid | APOE | EXPRESSION | GENOME-WIDE ASSOCIATION | Neurosciences | Neurovetenskaper
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