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1. Full Text TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
by de Vries, Petrus J and Belousova, Elena and Benedik, Mirjana P and Carter, Tom and Cottin, Vincent and Curatolo, Paolo and Dahlin, Maria and D'Amato, Lisa and d'Augères, Guillaume B and Ferreira, José C and Feucht, Martha and Fladrowski, Carla and Hertzberg, Christoph and Jozwiak, Sergiusz and Kingswood, J Chris and Lawson, John A and Macaya, Alfons and Marques, Ruben and Nabbout, Rima and O'Callaghan, Finbar and Qin, Jiong and Sander, Valentin and Sauter, Matthias and Shah, Seema and Takahashi, Yukitoshi and Touraine, Renaud and Youroukos, Sotiris and Zonnenberg, Bernard and Jansen, Anna C and TOSCA Investigators and TOSCA Consortium and TOSCA Consortium and TOSCA Investigators and on behalf of TOSCA Consortium and TOSCA Investigators
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
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2. Full Text Tuberous sclerosis
by Curatolo, Paolo, Prof and Bombardieri, Roberta, MD and Jozwiak, Sergiusz, MD
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
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3. Full Text Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis
by Ramesh, Vijaya and Han, Sangyeul and Shilyansky, Carrie and Ehninger, Dan and Silva, Alcino J and Kwiatkowski, David J and Zhou, Yu and Li, Weidong
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
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4. Full Text The genomic landscape of tuberous sclerosis complex
by Martin, Katie R and Zhou, Wanding and Bowman, Megan J and Shih, Juliann and Au, Kit Sing and Dittenhafer-Reed, Kristin E and Sisson, Kellie A and Koeman, Julie and Weisenberger, Daniel J and Cottingham, Sandra L and Deroos, Steven T and Devinsky, Orrin and Winn, Mary E and Cherniack, Andrew D and Shen, Hui and Northrup, Hope and Krueger, Darcy A and Mackeigan, Jeffrey P
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
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5. Full Text Genetically engineered human cortical spheroid models of tuberous sclerosis
by Blair, John D and Hockemeyer, Dirk and Bateup, Helen S
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
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6. Full Text Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex
by Liang, Ning and Zhang, Chi and Dill, Patricia and Panasyuk, Ganna and Pion, Delphine and Koka, Vonda and Gallazzini, Morgan and Olson, Eric N and Lam, Hilaire and Henske, Elizabeth P and Dong, Zheng and Apte, Udayan and Pallet, Nicolas and Johnson, Randy L and Terzi, Fabiola and Kwiatkowski, David J and Scoazec, Jean-Yves and Martignoni, Guido and Pende, Mario
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
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7. Full Text Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex
by Salussolia, Catherine L and Klonowska, Katarzyna and Kwiatkowski, David J and Sahin, Mustafa
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
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