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1. Full Text Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial
by Bissler, John J, Prof and Kingswood, J Christopher, FRCP and Radzikowska, Elżbieta, MD and Zonnenberg, Bernard A, MD and Frost, Michael, MD and Belousova, Elena, Prof and Sauter, Matthias, MD and Nonomura, Norio, Prof and Brakemeier, Susanne, MD and de Vries, Petrus J, Prof and Whittemore, Vicky H, PhD and Chen, David, PhD and Sahmoud, Tarek, MD and Shah, Gaurav, MD and Lincy, Jeremie, MS and Lebwohl, David, MD and Budde, Klemens, Prof
Lancet, The, ISSN 0140-6736, 2013, Volume 381, Issue 9869, pp. 817 - 824
Summary Background Angiomyolipomas are slow-growing tumours associated with constitutive activation of mammalian target of rapamycin (mTOR), and are common in... 
Internal Medicine | WOMEN | MEDICINE, GENERAL & INTERNAL | THERAPY | CLINICAL-TRIAL | EFFICACY | CONSENSUS CONFERENCE | DISEASE | RENAL ANGIOMYOLIPOMATA | T-CELL LYMPHOMA | PHASE-2 | SIROLIMUS | Angiomyolipoma - complications | Sirolimus - analogs & derivatives | Sirolimus - therapeutic use | Prospective Studies | Double-Blind Method | Tuberous Sclerosis - complications | Humans | Male | Antineoplastic Agents - therapeutic use | Angiomyolipoma - drug therapy | Lymphangioleiomyomatosis - complications | Adult | Female | Everolimus | Research | Drug therapy | Patient outcomes | Tumors | Clinical trials | Tuberous sclerosis | Angiogenesis inhibitors | Pharmaceutical industry | Autism | Substance abuse treatment | Drug dosages | Collagen | Index Medicus | Abridged Index Medicus
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2. Full Text Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial
by Franz, David Neal, Prof and Belousova, Elena, MD and Sparagana, Steven, MD and Bebin, E Martina, MD and Frost, Michael, MD and Kuperman, Rachel, MD and Witt, Olaf, MD and Kohrman, Michael H, MD and Flamini, J Robert, MD and Wu, Joyce Y, MD and Curatolo, Paolo, Prof and de Vries, Petrus J, Prof and Whittemore, Vicky H, PhD and Thiele, Elizabeth A, MD and Ford, James P, MS and Shah, Gaurav, MD and Cauwel, Helene, MSc and Lebwohl, David, MD and Sahmoud, Tarek, MD and Jozwiak, Sergiusz, MD
Lancet, The, ISSN 0140-6736, 2013, Volume 381, Issue 9861, pp. 125 - 132
Summary Background Tuberous sclerosis complex is a genetic disorder leading to constitutive activation of mammalian target of rapamycin (mTOR) and growth of... 
Internal Medicine | RAPAMYCIN | REGRESSION | MEDICINE, GENERAL & INTERNAL | CLINICAL-TRIAL | ANGIOMYOLIPOMA | PULMONARY LYMPHANGIOLEIOMYOMATOSIS | CONSENSUS CONFERENCE | LYMPHOMA | MUTATIONAL ANALYSIS | TUMORS | SIROLIMUS | Sirolimus - analogs & derivatives | Sirolimus - therapeutic use | Double-Blind Method | Tuberous Sclerosis - complications | Humans | Child, Preschool | Infant | Male | Treatment Outcome | Fever - chemically induced | Oral Ulcer - chemically induced | Seizures - chemically induced | Astrocytoma - complications | Young Adult | Stomatitis - chemically induced | Adolescent | Astrocytoma - drug therapy | Adult | Female | Child | Everolimus | Sirolimus - adverse effects | Tuberous sclerosis | Complications and side effects | Research | Drug therapy | Astrocytoma | Risk factors | Kinases | Medical treatment | Epilepsy | Colorectal cancer | Index Medicus | Abridged Index Medicus
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3. Full Text Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study
by French, Jacqueline A, Dr Prof and Lawson, John A, MD and Yapici, Zuhal, Prof and Ikeda, Hiroko, MD and Polster, Tilman, MD and Nabbout, Rima, PhD and Curatolo, Paolo, Prof and de Vries, Petrus J, Prof and Dlugos, Dennis J, MD and Berkowitz, Noah, PhD and Voi, Maurizio, MD and Peyrard, Severine, MS and Pelov, Diana, MS and Franz, David N, Prof
Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10056, pp. 2153 - 2163
Summary Background Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used for various benign tumours associated with tuberous sclerosis... 
Internal Medicine | MAMMALIAN TARGET | TRIAL | MEDICINE, GENERAL & INTERNAL | RAPAMYCIN MTOR | COMPLEX | LYMPHANGIOLEIOMYOMATOSIS | EFFICACY | GIANT-CELL ASTROCYTOMAS | SAFETY | ANGIOMYOLIPOMA | INTRACTABLE EPILEPSY | Double-Blind Method | Tuberous Sclerosis - complications | Humans | Middle Aged | Seizures - drug therapy | Anticonvulsants - therapeutic use | Child, Preschool | Male | Antineoplastic Agents - therapeutic use | Combined Modality Therapy | Dose-Response Relationship, Drug | Adolescent | Everolimus - adverse effects | Adult | Everolimus - therapeutic use | Female | Aged | Child | Tuberous sclerosis | Nervous system diseases | Care and treatment | Seizures (Medicine) | Angiogenesis inhibitors | Epilepsy | Prescription drugs | Convulsions & seizures | Genetic disorders | Clinical trials | Mutation | Drug therapy | Index Medicus | Abridged Index Medicus
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4. Full Text Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: A phase 2 trial
by Davies, D. Mark and De Vries, Petrus J and Johnson, Simon R and McCartney, Deborah L and Cox, Jane A and Serra, Andreas L and Watson, Peter C and Howe, Christopher J and Doyle, Tim and Pointon, Kate and Cross, Justin J and Tattersfield, Anne E and Kingswood, J. Chris and Sampson, Julian R
Clinical Cancer Research, ISSN 1078-0432, 06/2011, Volume 17, Issue 12, pp. 4071 - 4081
Purpose: Renal angiomyolipomas are a frequent manifestation of tuberous sclerosis and sporadic lymphangioleiomyomatosis (LAM). These disorders are associated... 
RAPAMYCIN | COMPLEX | PROGESTERONE | EFFICACY | MEMORY | ONCOLOGY | PULMONARY LYMPHANGIOLEIOMYOMATOSIS | GUIDELINES | LUNG-FUNCTION | DEFICITS | DECLINE | Angiomyolipoma - complications | Sirolimus - therapeutic use | Tuberous Sclerosis - complications | Humans | Middle Aged | Male | Treatment Outcome | Angiomyolipoma - pathology | Lung - physiopathology | Angiomyolipoma - drug therapy | Lymphangioleiomyomatosis - pathology | Neuropsychological Tests | Tuberous Sclerosis - pathology | Young Adult | Lymphangioleiomyomatosis - complications | Adolescent | Adult | Female | Aged | Sirolimus - adverse effects | Index Medicus
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5. Full Text Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis
by Bissler, John J and McCormack, Francis X and Young, Lisa R and Elwing, Jean M and Chuck, Gail and Leonard, Jennifer M and Schmithorst, Vincent J and Laor, Tal and Brody, Alan S and Bean, Judy and Salisbury, Shelia and Franz, David N
The New England Journal of Medicine, ISSN 0028-4793, 01/2008, Volume 358, Issue 2, pp. 140 - 151
In this open-label trial, patients with tuberous sclerosis or lymphangioleiomyomatosis — conditions with constitutive activation of signaling by the mammalian... 
RAPAMYCIN | TARGET | MEDICINE, GENERAL & INTERNAL | THERAPY | PATHWAY | DISEASE | LIVER-TRANSPLANT | TUMOR VOLUMETRY | CERVICAL-CANCER | RENAL-TRANSPLANT RECIPIENTS | Protein Kinases - metabolism | Tuberous Sclerosis - complications | Humans | Immunosuppressive Agents - therapeutic use | Lymphangioleiomyomatosis - physiopathology | Middle Aged | Liver Diseases - pathology | Lung Neoplasms - pathology | Male | Lung - diagnostic imaging | Lung Neoplasms - physiopathology | Angiomyolipoma - drug therapy | Lymphangioleiomyomatosis - pathology | Adult | Angiomyolipoma - etiology | Female | Sirolimus - adverse effects | Sirolimus - therapeutic use | Kidney Diseases - pathology | Angiomyolipoma - pathology | Lung - physiopathology | Lung Neoplasms - complications | Tuberous Sclerosis - genetics | Radiography | Magnetic Resonance Imaging | Lymphangioleiomyomatosis - complications | Protein Kinase Inhibitors - therapeutic use | Brain - pathology | Immunosuppressive Agents - adverse effects | TOR Serine-Threonine Kinases | Respiratory Function Tests | Drug therapy | Genetic aspects | Sclerosis | Proteins | Medical research | Mutation | Drug dosages | Index Medicus | Abridged Index Medicus
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6. Full Text Everolimus treatment of refractory epilepsy in tuberous sclerosis complex
by Krueger, Darcy A and Wilfong, Angus A and Holland‐Bouley, Katherine and Anderson, Anne E and Agricola, Karen and Tudor, Cindy and Mays, Maxwell and Lopez, Christina M and Kim, Mi‐Ok and Franz, David Neal
Annals of Neurology, ISSN 0364-5134, 11/2013, Volume 74, Issue 5, pp. 679 - 687
ObjectiveEpilepsy is a major manifestation of tuberous sclerosis complex (TSC). Everolimus is an mammalian target of rapamycin complex 1 inhibitor with... 
MAMMALIAN TARGET | RAPAMYCIN | MTOR INHIBITION | EFFICACY | GIANT-CELL ASTROCYTOMAS | SAFETY | ANGIOMYOLIPOMA | MOUSE MODEL | BEHAVIOR RATING FORM | EPILEPTOGENESIS | NEUROSCIENCES | CLINICAL NEUROLOGY | Sirolimus - analogs & derivatives | Sirolimus - therapeutic use | Tuberous Sclerosis - complications | Brain - physiopathology | Humans | Anticonvulsants - therapeutic use | Child, Preschool | Male | Treatment Outcome | Electroencephalography | Epilepsy - physiopathology | Epilepsy - etiology | Brain - drug effects | Young Adult | Tuberous Sclerosis - drug therapy | Tuberous Sclerosis - physiopathology | Adolescent | Quality of Life | Epilepsy - drug therapy | Female | Child | Everolimus | Health care | Clinical trials | Epilepsy | Quality of life | Index Medicus
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7. Full Text Efficacy and Safety of Topical Sirolimus Therapy for Facial Angiofibromas in the Tuberous Sclerosis Complex : A Randomized Clinical Trial
by Wataya-Kaneda, Mari and Nakamura, Ayumi and Tanaka, Mari and Hayashi, Misa and Matsumoto, Shoji and Yamamoto, Koji and Katayama, Ichiro
JAMA Dermatology, ISSN 2168-6068, 01/2017, Volume 153, Issue 1, pp. 39 - 48
IMPORTANCE: Inhibitors of mammalian target of rapamycin complex 1, such as sirolimus, effectively target skin lesions in tuberous sclerosis complex (TSC).... 
RAPAMYCIN | LYMPHANGIOLEIOMYOMATOSIS | DOSE LEVELS | EVEROLIMUS | GIANT-CELL ASTROCYTOMAS | HYPOMELANOTIC MACULES | CONSENSUS CONFERENCE | PEDIATRIC-PATIENTS | DIAGNOSTIC-CRITERIA | MTOR | DERMATOLOGY | Skin Neoplasms - drug therapy | Tuberous Sclerosis - complications | Humans | Middle Aged | Antibiotics, Antineoplastic - adverse effects | Male | Patient Satisfaction | Young Adult | Angiofibroma - complications | Adult | Female | Child | Sirolimus - adverse effects | Facial Neoplasms - drug therapy | Double-Blind Method | Gels | Treatment Outcome | Sirolimus - blood | Antibiotics, Antineoplastic - administration & dosage | Skin Neoplasms - complications | Sirolimus - administration & dosage | Adolescent | Facial Neoplasms - complications | Administration, Topical | Angiofibroma - drug therapy | Treatment outcome | Care and treatment | Prosopagnosia | Analysis | Index Medicus | Abridged Index Medicus
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8. Full Text Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist
by de Vries, Petrus J., MBChB, MRCPsych, PhD and Whittemore, Vicky H., PhD and Leclezio, Loren, MSc(Neurosci) and Byars, Anna W., PhD and Dunn, David, MD and Ess, Kevin C., MD, PhD and Hook, Dena and King, Bryan H., MD, MBA and Sahin, Mustafa, MD, PhD and Jansen, Anna, MD
Pediatric Neurology, ISSN 0887-8994, 2015, Volume 52, Issue 1, pp. 25 - 35
Abstract Background Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance,... 
Pediatrics | Neurology | neurocognition | mental health | psycho-social | behavior | autism | neuropsychological | psychiatric disorders | learning disorders | POPULATION | COMPLEX | MULTICENTER | EVEROLIMUS | SPORADIC LYMPHANGIOLEIOMYOMATOSIS | SIROLIMUS THERAPY | CLINICAL NEUROLOGY | RECOMMENDATIONS | ANGIOMYOLIPOMA | ADOLESCENTS | PEDIATRICS | QUESTIONNAIRE | Tuberous Sclerosis - complications | Brain Diseases - diagnosis | Humans | Child, Preschool | Terminology as Topic | Infant | Mental Disorders - complications | Brain Diseases - physiopathology | Mental Disorders - physiopathology | Mental Disorders - psychology | Pilot Projects | Brain Diseases - complications | Tuberous Sclerosis - physiopathology | Adolescent | Checklist | Adult | Tuberous Sclerosis - diagnosis | Tuberous Sclerosis - psychology | Mental Disorders - diagnosis | Child | Brain Diseases - psychology | Tuberous sclerosis | Nervous system diseases | Neurosciences | Index Medicus
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9. Full Text Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis
by Krueger, Darcy A and Care, Marguerite M and Holland, Katherine and Agricola, Karen and Tudor, Cynthia and Mangeshkar, Prajakta and Wilson, Kimberly A and Byars, Anna and Sahmoud, Tarek and Franz, David Neal
The New England Journal of Medicine, ISSN 0028-4793, 11/2010, Volume 363, Issue 19, pp. 1801 - 1811
Neurosurgical resection is standard for subependymal giant-cell astrocytomas (SEGAs) in tuberous sclerosis. Treatment with everolimus, which inhibits the... 
RAPAMYCIN | REGRESSION | PATHOGENESIS | MEDICINE, GENERAL & INTERNAL | COMPLEX | ANGIOMYOLIPOMA | PULMONARY LYMPHANGIOLEIOMYOMATOSIS | TUMORS | MTOR | PLASTICITY | SIROLIMUS | Prospective Studies | Brain Neoplasms - etiology | Tuberous Sclerosis - complications | Humans | Brain Neoplasms - pathology | Seizures - drug therapy | Child, Preschool | Male | Young Adult | Astrocytoma - pathology | Astrocytoma - drug therapy | Protein-Serine-Threonine Kinases - antagonists & inhibitors | Adult | Female | Drug Therapy, Combination | Child | Everolimus | Sirolimus - adverse effects | Facial Neoplasms - drug therapy | Sirolimus - analogs & derivatives | Administration, Oral | Intracellular Signaling Peptides and Proteins - antagonists & inhibitors | Anticonvulsants - therapeutic use | Sirolimus - pharmacokinetics | Brain Neoplasms - drug therapy | Cognition - drug effects | Sirolimus - administration & dosage | Tuberous Sclerosis - drug therapy | Adolescent | Seizures - etiology | Quality of Life | TOR Serine-Threonine Kinases | Astrocytoma - etiology | Angiofibroma - drug therapy | Medical research | Nuclear magnetic resonance--NMR | Drug dosages | Tumors | Index Medicus | Abridged Index Medicus
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10. Full Text The natural history of epilepsy in tuberous sclerosis complex
by Chu-Shore, Catherine J and Major, Philippe and Camposano, Susana and Muzykewicz, David and Thiele, Elizabeth A
Epilepsia, ISSN 0013-9580, 07/2010, Volume 51, Issue 7, pp. 1236 - 1241
P>Background: Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this... 
Genetics | Infantile spasms | Epilepsy | Outcome | Tuberous sclerosis complex | SIGNALING PATHWAYS | TSC2 | MUTATIONAL ANALYSIS | MTOR | CLINICAL NEUROLOGY | CHILDREN | DISEASE | DIAGNOSTIC-CRITERIA | Follow-Up Studies | Tuberous Sclerosis - complications | Humans | Middle Aged | Child, Preschool | Infant | Epilepsy - physiopathology | Epilepsy - etiology | Young Adult | Tuberous Sclerosis - physiopathology | Adolescent | Adult | Retrospective Studies | Child | Infant, Newborn | Tuberous sclerosis | Seizures (Medicine) | Gene mutations | Index Medicus
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11. Full Text Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
by Tsai, Peter T and Hull, Court and Chu, Yunxiang and Greene-Colozzi, Emily and Sadowski, Abbey R and Leech, Jarrett M and Steinberg, Jason and Crawley, Jacqueline N and Regehr, Wade G and Sahin, Mustafa
Nature, ISSN 0028-0836, 08/2012, Volume 488, Issue 7413, pp. 647 - 651
Autism spectrum disorders (ASDs) are highly prevalent neurodevelopmental disorders(1), but the underlying pathogenesis remains poorly understood. Recent... 
SURVIVAL | MTORC1 | TUBEROUS SCLEROSIS COMPLEX | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | ULTRASONIC VOCALIZATIONS | DISORDERS | BRAIN | CHILDREN | Autistic Disorder - pathology | Autistic Disorder - physiopathology | TOR Serine-Threonine Kinases - metabolism | Tuberous Sclerosis - complications | Cell Count | Cerebellum - drug effects | TOR Serine-Threonine Kinases - antagonists & inhibitors | Synapses - metabolism | Tumor Suppressor Proteins - deficiency | Tumor Suppressor Proteins - genetics | Behavior, Animal - drug effects | Vocalization, Animal - drug effects | Purkinje Cells - drug effects | Autistic Disorder - genetics | Grooming - physiology | Tumor Suppressor Proteins - metabolism | Purkinje Cells - metabolism | Maze Learning - physiology | Mice, Inbred C57BL | Grooming - drug effects | Vocalization, Animal - physiology | Cerebellum - physiopathology | Maze Learning - drug effects | Mutation - genetics | Sirolimus - pharmacology | Cerebellum - pathology | Tuberous Sclerosis - genetics | Cell Shape - drug effects | Rotarod Performance Test | Animals | Heterozygote | Mice | Mice, Inbred BALB C | Autistic Disorder - complications | Autism | Complications and side effects | Purkinje cells | Tuberous sclerosis | Physiological aspects | Research | Risk factors | Studies | Proteins | Pathogenesis | Social interaction | Rodents | Ataxia | Behavior | Animal cognition | Index Medicus
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