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Human mutation, ISSN 1059-7794, 01/2013, Volume 34, Issue 1, pp. 79 - 82
frontotemporal dementia | expansion mutation | amyotrophic lateral sclerosis | C9orf72 | Expansion mutation | Amyotrophic lateral sclerosis | Frontotemporal dementia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | DNA Repeat Expansion - genetics | Humans | Asian Continental Ancestry Group - genetics | Male | Europe - ethnology | Ethnic Groups - genetics | DNA Mutational Analysis | Africa - ethnology | Aged, 80 and over | Female | C9orf72 Protein | China - ethnology | Genetic Predisposition to Disease - genetics | Amyotrophic Lateral Sclerosis - genetics | Gene Frequency | Kaplan-Meier Estimate | Amyotrophic Lateral Sclerosis - ethnology | Spain | Proteins - genetics | Genetic Predisposition to Disease - ethnology | Heterozygote | Aged | Polymorphism, Single Nucleotide | Mutation | Japan - ethnology | Care and treatment | Genetic aspects | Chromosomes | Analysis | Dementia | Index Medicus
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Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 10/2020, Volume 91, Issue 10, pp. 1030 - 1030
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Lancet neurology, ISSN 1474-4422, 10/2018, Volume 17, Issue 10, pp. 860 - 869
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Medical research | Medical examination | Analysis | Medicine, Experimental | Adults | Diagnostic imaging | Diagnosis | Down syndrome | Biological markers | Alzheimer's disease | Blood | Neuroimaging | Plasma | Intellectual disabilities | Clinical trials | Thyroid gland | Cerebrospinal fluid | Medical diagnosis | Psychotropic drugs | Proteins | Down's syndrome | Neurodegeneration | Dementia disorders | Amyloid | Age | Enzyme-linked immunosorbent assay | Handicapped accessibility | Neurodegenerative diseases | Studies | Tau protein | Biomarkers | Alzheimers disease | Dementia | Index Medicus | Life Sciences | Human health and pathology | Neurons and Cognition
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Scientific reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 5181 - 5181
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Neurobiology of aging, ISSN 0197-4580, 2014, Volume 35, Issue 2, pp. 444.e1 - 444.e4
Neurology | Internal Medicine | Rare variant | TREM2 | Frontotemporal dementia | Genetic association | p.R47H | Alzheimer's disease | P.R47H | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Frontotemporal Dementia - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Meta-Analysis as Topic | Genes, Recessive - genetics | Humans | Middle Aged | Risk Factors | Genotype | Male | Membrane Glycoproteins - genetics | Spain | Multicenter Studies as Topic | Alleles | Aged, 80 and over | Female | Polymorphism, Genetic - genetics | Aged | Mutation | Alzheimer Disease - genetics | Receptors, Immunologic - genetics | Cohort Studies | Medicine, Experimental | Medical research | Risk factors | Amyloid beta-protein | Index Medicus
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Journal of Alzheimer's disease, ISSN 1387-2877, 2014, Volume 41, Issue 1, pp. 273 - 288
methylglyoxal | 3-nitrotyrosine | apoptosis | amyloid | Alzheimer's disease | triose-phosphate isomerase | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Middle Aged | Cell Survival - genetics | Apoptosis - genetics | Male | Triose-Phosphate Isomerase - genetics | Pyruvaldehyde - metabolism | Computer Simulation | Amyloid beta-Peptides - metabolism | Neurons - physiology | Triose-Phosphate Isomerase - metabolism | Female | Cell Survival - physiology | Alzheimer Disease - physiopathology | Peptide Fragments - metabolism | Brain - physiopathology | Models, Molecular | Presenilin-1 - genetics | Mice, Transgenic | Amyloid beta-Protein Precursor - genetics | Animals | Cell Line, Tumor | Aged | Apoptosis - physiology | Alzheimer Disease - genetics | Index Medicus | Alzheimer, Malaltia d | Methylglyoxal | Amyloid | Triose-phosphate isomerase | Apoptosis
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Neurobiology of aging, ISSN 0197-4580, 2008, Volume 31, Issue 5, pp. 725 - 731
Neurology | Internal Medicine | APP | Mutations | Early-onset Alzheimer's disease | Presenilins | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Fundamental and applied biological sciences. Psychology | Vertebrates: nervous system and sense organs | Development. Senescence. Regeneration. Transplantation | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Biological and medical sciences | Medical sciences | Genetic Predisposition to Disease - genetics | Genetic Testing | Humans | Middle Aged | Africa | Presenilin-1 - genetics | Exons - genetics | Mutation - genetics | Portugal | Spain | Amyloid beta-Protein Precursor - genetics | Presenilin-2 - genetics | Adult | Aged | Alzheimer Disease - genetics | Index Medicus
Journal Article
Acta neuropathologica, ISSN 0001-6322, 2/2013, Volume 125, Issue 2, pp. 201 - 213
Pathology | Neurosciences | Autosomal-dominant Alzheimer disease | Medicine & Public Health | β -Site APP-cleaving enzyme | Presenilin | β -Amyloid | Amyloid precursor protein | β-Amyloid | β-Site APP-cleaving enzyme | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Immunohistochemistry | Central Nervous System - metabolism | Humans | Middle Aged | Male | Apolipoproteins E - metabolism | Amyloid beta-Protein Precursor - cerebrospinal fluid | Amyloid beta-Protein Precursor - metabolism | Adult | Female | Presenilin-1 - cerebrospinal fluid | Presenilin-1 - genetics | Alzheimer Disease - cerebrospinal fluid | Mutation - genetics | Amyloid Precursor Protein Secretases - cerebrospinal fluid | Blotting, Western | Neurites - pathology | Amyloid Precursor Protein Secretases - metabolism | Aspartic Acid Endopeptidases - cerebrospinal fluid | Apolipoproteins E - genetics | Aspartic Acid Endopeptidases - metabolism | Alzheimer Disease - metabolism | Heterozygote | Aged | Alzheimer Disease - genetics | Physiological aspects | Enzymes | Alzheimer's disease | Amyloid beta-protein | Index Medicus | Brain | Neurodegenerative diseases | BACE protein | Central nervous system | Clinical trials | Data processing | beta -Amyloid | Cerebrospinal fluid | beta -Site APP cleaving enzyme | Amyloid | Mutation | Original Paper
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Movement disorders, ISSN 0885-3185, 01/2017, Volume 32, Issue 1, pp. 165 - 169
structural variants | Parkinson's disease | XHMM software | next generation sequencing | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Parkinson Disease - genetics | Sequence Analysis, DNA - methods | Humans | Cohort Studies | DNA Copy Number Variations | Spain | Markov processes | Nucleotide sequencing | Analysis | DNA sequencing | Neurodegenerative diseases | LRRK2 protein | PTEN-induced putative kinase | Movement disorders | Parkinsons disease | Index Medicus | Structural variants | Next generation sequencing | Brief Report | Brief Reports
Journal Article
The Lancet (British edition), ISSN 0140-6736, 06/2020, Volume 395, Issue 10242, pp. 1988 - 1997
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Medicine, Experimental | Medical research | Down syndrome | Alzheimer's disease | Caregivers | Plasma | Mental disorders | Peptides | Intellectual disabilities | Cognitive ability | Disabilities | Cognition | Cerebrospinal fluid | Proteins | Atrophy | Down's syndrome | Neurodegeneration | Apolipoprotein E | Older people | Tomography | Dementia disorders | Population | Amyloid | Natural history | Age | Automation | Medical imaging | Threonine | Neurodegenerative diseases | Complications | Abnormalities | Medical treatment | Positron emission | Fluorine isotopes | Metabolism | Hospitals | Magnetic resonance imaging | Tau protein | Biomarkers | Adults | Alzheimers disease | Positron emission tomography | Carrier density | Hippocampus | Tracers | Dementia | Index Medicus | Abridged Index Medicus
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