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Orphanet journal of rare diseases, ISSN 1750-1172, 09/2018, Volume 13, Issue 1, pp. 157 - 157
TSC-associated neuropsychiatric disorders | TOSCA | Tuberous sclerosis complex | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Attention Deficit Disorder with Hyperactivity - physiopathology | Humans | Child, Preschool | Male | Tuberous Sclerosis Complex 1 Protein - genetics | Tuberous Sclerosis Complex 2 Protein - genetics | Intellectual Disability - genetics | Young Adult | Adult | Female | Child | Depressive Disorder - genetics | Autism Spectrum Disorder - genetics | Genotype | Mutation - genetics | Tuberous Sclerosis - genetics | Intellectual Disability - physiopathology | Neuropsychological Tests | Attention Deficit Disorder with Hyperactivity - genetics | Depressive Disorder - physiopathology | Tuberous Sclerosis - physiopathology | Adolescent | Anxiety Disorders - genetics | Anxiety Disorders - physiopathology | Autism Spectrum Disorder - physiopathology | Complications and side effects | Medical research | Neuropsychiatry | Tuberous sclerosis | Medicine, Experimental | Genetic aspects | Research | Mental illness | Risk factors | Autism | Nervous system diseases | Analysis | Attention-deficit hyperactivity disorder | Anxiety | Tuberous Sclerosis Complex 2 | Intelligence | Disease | Mental disorders | Intellectual disabilities | Epilepsy | TSC1 protein | Psychosis | Genotype & phenotype | Children | Age | Genotypes | Natural history | Impulsivity | Self-injury | Attention deficit hyperactivity disorder | Case reports | Data processing | Behavior disorders | Self destructive behavior | Studies | Mood | Sleep | Anxieties | Hallucinations | Impulsive behavior | Mutation | Index Medicus | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Depressive Disorder/genetics | Psykiatri | Anxiety Disorders/genetics | Autism Spectrum Disorder/genetics | Mutation/genetics | Tuberous Sclerosis/genetics | Intellectual Disability/genetics | Tuberous Sclerosis Complex 1 Protein/genetics | Clinical Medicine | Attention Deficit Disorder with Hyperactivity/genetics | Psychiatry | Tuberous Sclerosis Complex 2 Protein/genetics
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2008, Volume 372, Issue 9639, pp. 657 - 668
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Neurology | Biological and medical sciences | General aspects | Medical sciences | Tumors of the nervous system. Phacomatoses | Electroencephalography | Tuberous Sclerosis - diagnosis | Tuberous Sclerosis - complications | Humans | Tuberous Sclerosis - physiopathology | Tumor Suppressor Proteins - genetics | Early intervention | Photodynamic therapy | Medical imaging | Mortality | Kinases | Gene expression | Proteins | Surveillance | Genetics | Mutation | Kidney diseases | Methods | Tumors | Index Medicus | Abridged Index Medicus
Journal Article
Nature medicine, ISSN 1078-8956, 08/2008, Volume 14, Issue 8, pp. 843 - 848
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Protein Kinases - metabolism | Signal Transduction | Mice, Inbred C57BL | Male | Cognition Disorders - genetics | Sirolimus - pharmacology | Tuberous Sclerosis - genetics | Behavior, Animal | Learning | Hippocampus - metabolism | Tumor Suppressor Proteins - physiology | Animals | Tumor Suppressor Proteins - genetics | Female | Heterozygote | Mice | TOR Serine-Threonine Kinases | Medical research | Neurology | Genetic disorders | Cognition & reasoning | Rodents | Memory | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 06/2017, Volume 8, Issue 1, pp. 15816 - 15816
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Tumor Suppressor Proteins - metabolism | Genomics | Humans | Tuberous Sclerosis Complex 1 Protein - genetics | Tuberous Sclerosis Complex 2 Protein - genetics | Tuberous Sclerosis - genetics | Tuberous Sclerosis Complex 1 Protein - metabolism | Tuberous Sclerosis - metabolism | Tumor Suppressor Proteins - genetics | Carcinoma - genetics | Tuberous Sclerosis Complex 2 Protein - metabolism | Carcinoma - metabolism | Mutation | TOR protein | Brain | Tuberous Sclerosis Complex 2 | Carcinoma | Deactivation | Computational neuroscience | Brain tumors | Benign | Tuberous sclerosis | Inflammation | Inactivation | Tuberous Sclerosis Complex 1 | Heterogeneity | Aberration | Lesions | Signatures | Chromosome aberrations | Tumors | Index Medicus
Journal Article
Nature medicine, ISSN 1078-8956, 10/2018, Volume 24, Issue 10, pp. 1568 - 1578
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Cell Line | Neurons - pathology | Neuroglia - pathology | Humans | Spheroids, Cellular - metabolism | Cerebral Cortex - pathology | Tuberous Sclerosis Complex 1 Protein - genetics | CRISPR-Cas Systems - genetics | Cerebral Cortex - metabolism | Tuberous Sclerosis Complex 2 Protein - genetics | Tuberous Sclerosis - genetics | Genetic Engineering | Pluripotent Stem Cells - transplantation | Tuberous Sclerosis - physiopathology | Neuroglia - metabolism | Neurons - metabolism | Tuberous sclerosis | Development and progression | Care and treatment | Research | Gene mutations | Genetically modified organisms | TOR protein | CRISPR | Regulators | Tuberous Sclerosis Complex 2 | Deactivation | Epilepsy | Cortex | Rapamycin | Inactivation | Tuberous Sclerosis Complex 1 | Spheroids | Neuronal-glial interactions | Proteins | Heterogeneity | Stem cells | Genetic engineering | Mutation | Three dimensional models | Pluripotency | Genetic modification | Index Medicus
Journal Article
The Journal of experimental medicine, ISSN 0022-1007, 2014, Volume 211, Issue 11, pp. 2249 - 2263
Immunology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Immunohistochemistry | Up-Regulation | Cell Proliferation | Kidney - pathology | TOR Serine-Threonine Kinases - metabolism | Apoptosis - drug effects | Humans | Cell Survival - genetics | Apoptosis - genetics | Phosphoproteins - metabolism | Autophagy - drug effects | Tuberous Sclerosis - pathology | Kidney - metabolism | Tumor Suppressor Proteins - genetics | Verteporfin | Autophagy - genetics | Disease Models, Animal | Cell Survival - drug effects | Tumor Suppressor Proteins - metabolism | Gene Expression Regulation | Phosphoproteins - genetics | Porphyrins - pharmacology | Angiomyolipoma - genetics | Mice, Knockout | Tuberous Sclerosis - genetics | Animals | Signal Transduction - drug effects | Tuberous Sclerosis - metabolism | Adaptor Proteins, Signal Transducing - genetics | Tuberous Sclerosis Complex 1 Protein | Mice | Adaptor Proteins, Signal Transducing - metabolism | Angiomyolipoma - metabolism | Cell Cycle Proteins | Index Medicus | 307
Journal Article
Annual review of genomics and human genetics, ISSN 1527-8204, 8/2019, Volume 20, Issue 1, pp. 217 - 240
epilepsy | mTOR | genetics | tuberous sclerosis | rapamycin | Neuroprotective Agents - therapeutic use | Neurons - pathology | TOR Serine-Threonine Kinases - metabolism | Humans | Mental Disorders - metabolism | Tuberous Sclerosis Complex 1 Protein - genetics | Tuberous Sclerosis Complex 2 Protein - genetics | Neurogenesis - genetics | TOR Serine-Threonine Kinases - antagonists & inhibitors | Mental Disorders - genetics | TOR Serine-Threonine Kinases - genetics | Everolimus - therapeutic use | Tuberous Sclerosis Complex 2 Protein - metabolism | Neurogenesis - drug effects | Neurons - metabolism | Tuberous Sclerosis - diagnosis | Mental Disorders - diagnosis | Neurons - drug effects | Severity of Illness Index | Signal Transduction | Gene Expression Regulation | Genotype | Tuberous Sclerosis - genetics | Tuberous Sclerosis Complex 1 Protein - metabolism | Phenotype | Vigabatrin - therapeutic use | Tuberous Sclerosis - drug therapy | Tuberous Sclerosis - metabolism | Mental Disorders - drug therapy | Mutation | TOR protein | Tuberous Sclerosis Complex 2 | Genetic variability | Mental disorders | Epilepsy | Tuberous sclerosis | Rapamycin | Neurodevelopmental disorders | Tuberous Sclerosis Complex 1 | Morbidity | Hereditary diseases | Index Medicus
Journal Article