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1.
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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Nature (London), ISSN 0028-0836, 09/2011, Volume 477, Issue 7363, pp. 211 - 215
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Cell Cycle Proteins - analysis | Spinal Cord - metabolism | Ubiquitins - genetics | Humans | Ubiquitin - metabolism | Molecular Sequence Data | Male | Dementia - genetics | DNA-Binding Proteins - metabolism | Base Sequence | Aging | Cell Cycle Proteins - genetics | Adult | Female | Child | Amino Acid Sequence | Cell Line | Dementia - pathology | Genes, X-Linked - genetics | Amyotrophic Lateral Sclerosis - genetics | Mutation - genetics | Amyotrophic Lateral Sclerosis - complications | Hippocampus - metabolism | Amyotrophic Lateral Sclerosis - pathology | Dementia - complications | Pedigree | Age of Onset | Ubiquitins - analysis | Proteasome Endopeptidase Complex - metabolism | Genes, Dominant - genetics | Amyotrophic lateral sclerosis | Genetic aspects | Diagnosis | Research | Gene mutations | Dementia | Proteins | Studies | Pathology | Pathogenesis | Neurodegeneration | Mutation | Alzheimers disease | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
The journals of gerontology. Series A, Biological sciences and medical sciences, ISSN 1079-5006, 05/2020, Volume 75, Issue 6, pp. 1058 - 1060
Gerontology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Alzheimer Disease - etiology | Alzheimer Disease - virology | Prospective Studies | Antiviral Agents - therapeutic use | Herpesviridae | Humans | Herpesviridae Infections - complications | Causality | Herpesviridae Infections - drug therapy | Randomized Controlled Trials as Topic | Neurodegenerative diseases | Pathogenesis | Herpes viruses | Herpes simplex | Varicella | Alzheimers disease | Alzheimer's disease | Index Medicus | Abridged Index Medicus
Journal Article
BMC medicine, ISSN 1741-7015, 10/2009, Volume 7, Issue 1, pp. 62 - 62
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Autistic Disorder - genetics | Sequence Deletion | Receptors, Oxytocin - deficiency | Humans | Child, Preschool | Male | DNA - metabolism | DNA - genetics | Young Adult | DNA Methylation | Comparative Genomic Hybridization | Microarray Analysis | Adolescent | Adult | Female | Child | Autism | Genetic aspects | Research | Oxytocin | Genomics | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 2019, Volume 51, Issue 3, pp. 369 - 371
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Basal ganglia | Autopsies | Parkinson's disease | Neurodegenerative diseases | Nucleotide sequence | Parkinsons disease | Central nervous system diseases | Genomes | Heredity | Single-nucleotide polymorphism | Synuclein | Gene sequencing | Pathology | Neurology | Tau protein | Autopsy | Mutation | Genetic testing | LRRK2 protein | Chromosomes | Movement disorders | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 2007, Volume 80, Issue 3, pp. 531 - 538
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Predisposition to Disease | Gene Frequency | Humans | Probability | Penetrance | Genetic Markers | Linkage Disequilibrium | Polymorphism, Genetic | Genes - physiology | Computer Simulation | Alleles | Models, Genetic | Genetic Linkage | Allelomorphism | Genetic variation | Research | Hypotheses | Genes | Index Medicus | Report
Journal Article
Movement disorders, ISSN 0885-3185, 04/2015, Volume 30, Issue 4, pp. 560 - 566
Parkinson's disease | diet | vitamin D | vitamin D2 | Vitamin D2 | Diet | Vitamin D | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Calcifediol - blood | Humans | Middle Aged | Logistic Models | Male | Tandem Mass Spectrometry | Vitamin D Deficiency - epidemiology | Chromatography, Liquid | Parkinson Disease - epidemiology | Female | 25-Hydroxyvitamin D 2 - blood | Aged | Retrospective Studies | Parkinson Disease - blood | Diet therapy | Analysis | Calcifediol | Alfacalcidol | Mass spectrometry | Vitamin deficiency | Index Medicus | Parkinson disease
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 10/2014, Volume 164, Issue 10, pp. 2592 - 2600
parental attitudes | autism spectrum disorder | survey research | genetic testing | Survey research | Parental attitudes | Genetic testing | Autism spectrum disorder | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hispanic Americans - genetics | Child Development Disorders, Pervasive - genetics | Child | Genetic Testing - methods | Humans | Parents | Autism | Genetic screening | Children | Index Medicus
Journal Article
Annals of human genetics, ISSN 0003-4800, 03/2010, Volume 74, Issue 2, pp. 97 - 109
Parkinson disease | microtubule associated protein tau | alpha-synuclein | association study | alpha‐synuclein | Association study | Alpha-Synuclein | Microtubule associated protein tau | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genome-Wide Association Study | tau Proteins - genetics | Humans | tau Proteins - metabolism | Parkinson Disease - metabolism | Polymorphism, Single Nucleotide | alpha-Synuclein - genetics | Parkinson Disease - genetics | alpha-Synuclein - metabolism | Medical research | Parkinson's disease | Genomics | Medicine, Experimental | Genomes | Research | Risk factors | Prevalence studies (Epidemiology) | Index Medicus | Alpha-synuclein
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A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis
Science (American Association for the Advancement of Science), ISSN 0036-8075, 6/2005, Volume 308, Issue 5729, pp. 1801 - 1804
Receptors | Kidneys | Messenger RNA | Focal segmental glomerulosclerosis | Calcium | HEK293 cells | Cell lines | Reports | Kidney cells | Kidney diseases | Genetic mutation | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Glomerulonephritis | Nephrology. Urinary tract diseases | Biological and medical sciences | Medical sciences | Nephropathies. Renovascular diseases. Renal failure | Haplotypes | Uridine Triphosphate - metabolism | Calcium Channels - metabolism | Calcium - metabolism | Exons | Glomerulosclerosis, Focal Segmental - genetics | Humans | Male | Mutation, Missense | Sodium - metabolism | Kidney - metabolism | Receptor, Angiotensin, Type 1 - genetics | Transfection | Kidney Glomerulus - metabolism | Female | Cell Membrane - metabolism | GTP-Binding Protein alpha Subunits, Gq-G11 - metabolism | Kidney Tubules - metabolism | Calcium Channels - genetics | Calcium Signaling | Cell Line | Angiotensin II - pharmacology | TRPC6 Cation Channel | Angiotensin II - metabolism | TRPC Cation Channels | Uridine Triphosphate - pharmacology | Chromosomes, Human, Pair 11 - genetics | Sequence Analysis, DNA | Carbachol - pharmacology | Patch-Clamp Techniques | Pedigree | Calcium Channels - chemistry | Receptor, Angiotensin, Type 1 - metabolism | Amino Acid Substitution | Case studies | Research | Analysis | Heredity | Mutation | Chromosomes | Genes | Index Medicus
Journal Article
Science (American Association for the Advancement of Science), ISSN 0036-8075, 4/2005, Volume 308, Issue 5720, pp. 419 - 421
Datasets | Haplotypes | Exons | Genes | Alleles | Predisposing factors | Experimentation | Genetic loci | Reports | Modeling | Research universities | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Biological and medical sciences | Medical sciences | Ophthalmology | Retinopathies | Genetic Predisposition to Disease | Heparin - metabolism | Complement Activation | Complement Factor H - physiology | Gene Frequency | Humans | Risk Factors | Genotype | Sequence Analysis, DNA | Case-Control Studies | Linkage Disequilibrium | Genetic Variation | C-Reactive Protein - metabolism | Macular Degeneration - genetics | Complement Factor H - analysis | Aged | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 1 - genetics | Complement Factor H - genetics | Odds Ratio | Binding Sites | Smoking | Macular degeneration | Allelomorphism | Analysis | Causes of | Genetics | Research | Risk factors | Pathology | Genetic testing | Health risk assessment | Older people | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article