TY - JOUR AU - Franz, D. N. PY - 2011 DA - 2011// TI - Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis JO - Expert Rev Anticancer Ther VL - 11 UR - https://doi.org/10.1586/era.11.93 DO - 10.1586/era.11.93 ID - Franz2011 ER - TY - JOUR AU - Baskin, H. J. PY - 2008 DA - 2008// TI - The pathogenesis and imaging of the tuberous sclerosis complex JO - Pediatr Radiol VL - 38 UR - https://doi.org/10.1007/s00247-008-0832-y DO - 10.1007/s00247-008-0832-y ID - Baskin2008 ER - TY - JOUR AU - Curatolo, P. AU - Bombardieri, R. AU - Jozwiak, S. PY - 2008 DA - 2008// TI - Tuberous sclerosis JO - Lancet VL - 372 UR - https://doi.org/10.1016/S0140-6736(08)61279-9 DO - 10.1016/S0140-6736(08)61279-9 ID - Curatolo2008 ER - TY - JOUR AU - Osborne, J. P. AU - Fryer, A. AU - Webb, D. PY - 1991 DA - 1991// TI - Epidemiology of tuberous sclerosis JO - Ann N Y Acad Sci VL - 615 UR - https://doi.org/10.1111/j.1749-6632.1991.tb37754.x DO - 10.1111/j.1749-6632.1991.tb37754.x ID - Osborne1991 ER - TY - JOUR AU - Krueger, D. A. AU - Northrup, H. PY - 2013 DA - 2013// TI - Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference JO - Pediatr Neurol VL - 49 UR - https://doi.org/10.1016/j.pediatrneurol.2013.08.002 DO - 10.1016/j.pediatrneurol.2013.08.002 ID - Krueger2013 ER - TY - JOUR AU - Crino, P. B. AU - Nathanson, K. L. AU - Henske, E. P. PY - 2006 DA - 2006// TI - The tuberous sclerosis complex JO - N Engl J Med VL - 355 UR - https://doi.org/10.1056/NEJMra055323 DO - 10.1056/NEJMra055323 ID - Crino2006 ER - TY - JOUR AU - Kwiatkowski, D. J. AU - Manning, B. D. PY - 2005 DA - 2005// TI - Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways JO - Hum Mol Genet VL - 14 UR - https://doi.org/10.1093/hmg/ddi260 DO - 10.1093/hmg/ddi260 ID - Kwiatkowski2005 ER - TY - JOUR AU - Goh, S. AU - Butler, W. AU - Thiele, E. A. PY - 2004 DA - 2004// TI - Subependymal giant cell tumors in tuberous sclerosis complex JO - Neurology VL - 63 UR - https://doi.org/10.1212/01.WNL.0000142039.14522.1A DO - 10.1212/01.WNL.0000142039.14522.1A ID - Goh2004 ER - TY - JOUR AU - Adriaensen, M. E. AU - Schaefer-Prokop, C. M. AU - Stijnen, T. AU - Duyndam, D. A. AU - Zonnenberg, B. A. AU - Prokop, M. PY - 2009 DA - 2009// TI - Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature JO - Eur J Neurol VL - 16 UR - https://doi.org/10.1111/j.1468-1331.2009.02567.x DO - 10.1111/j.1468-1331.2009.02567.x ID - Adriaensen2009 ER - TY - JOUR AU - Krueger, D. A. PY - 2013 DA - 2013// TI - Management of CNS-related disease manifestations in patients with tuberous sclerosis complex JO - Curr Treat Options Neurol VL - 15 UR - https://doi.org/10.1007/s11940-013-0249-2 DO - 10.1007/s11940-013-0249-2 ID - Krueger2013 ER - TY - JOUR AU - Thiele, E. A. PY - 2004 DA - 2004// TI - Managing epilepsy in tuberous sclerosis complex JO - J Child Neurol VL - 19 ID - Thiele2004 ER - TY - JOUR AU - Curatolo, P. PY - 2015 DA - 2015// TI - Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy JO - Pediatr Neurol VL - 52 UR - https://doi.org/10.1016/j.pediatrneurol.2014.10.028 DO - 10.1016/j.pediatrneurol.2014.10.028 ID - Curatolo2015 ER - TY - JOUR AU - Chu-Shore, C. J. AU - Major, P. AU - Camposano, S. AU - Muzykewicz, D. AU - Thiele, E. A. PY - 2010 DA - 2010// TI - The natural history of epilepsy in tuberous sclerosis complex JO - Epilepsia VL - 51 UR - https://doi.org/10.1111/j.1528-1167.2009.02474.x DO - 10.1111/j.1528-1167.2009.02474.x ID - Chu-Shore2010 ER - TY - JOUR AU - Dragoumi, P. AU - Tzetzi, O. AU - Vargiami, E. AU - Pavlou, E. AU - Krikonis, K. AU - Kontopoulos, E. PY - 2013 DA - 2013// TI - Clinical course and seizure outcome of idiopathic childhood epilepsy: determinants of early and long-term prognosis JO - BMC Neurol VL - 13 UR - https://doi.org/10.1186/1471-2377-13-206 DO - 10.1186/1471-2377-13-206 ID - Dragoumi2013 ER - TY - JOUR AU - Shepherd, C. W. AU - Gomez, M. R. AU - Lie, J. T. AU - Crowson, C. S. PY - 1991 DA - 1991// TI - Causes of death in patients with tuberous sclerosis JO - Mayo Clin Proc VL - 66 UR - https://doi.org/10.1016/S0025-6196(12)61196-3 DO - 10.1016/S0025-6196(12)61196-3 ID - Shepherd1991 ER - TY - JOUR AU - McCormack, F. X. PY - 2008 DA - 2008// TI - Lymphangioleiomyomatosis: a clinical update JO - Chest VL - 133 UR - https://doi.org/10.1378/chest.07-0898 DO - 10.1378/chest.07-0898 ID - McCormack2008 ER - TY - JOUR AU - Franz, D. N. AU - Brody, A. AU - Meyer, C. AU - Leonard, J. AU - Chuck, G. AU - Dabora, S. PY - 2001 DA - 2001// TI - Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis JO - Am J Respir Crit Care Med VL - 164 UR - https://doi.org/10.1164/ajrccm.164.4.2011025 DO - 10.1164/ajrccm.164.4.2011025 ID - Franz2001 ER - TY - JOUR AU - Costello, L. C. AU - Hartman, T. E. AU - Ryu, J. H. PY - 2000 DA - 2000// TI - High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex JO - Mayo Clin Proc VL - 75 UR - https://doi.org/10.4065/75.6.591 DO - 10.4065/75.6.591 ID - Costello2000 ER - TY - JOUR AU - Isaacs, H. PY - 2009 DA - 2009// TI - Perinatal (fetal and neonatal) tuberous sclerosis: a review JO - Am J Perinatol VL - 26 UR - https://doi.org/10.1055/s-0029-1223267 DO - 10.1055/s-0029-1223267 ID - Isaacs2009 ER - TY - JOUR AU - Yates, J. R. PY - 2006 DA - 2006// TI - Tuberous sclerosis JO - Eur J Hum Genet VL - 14 UR - https://doi.org/10.1038/sj.ejhg.5201625 DO - 10.1038/sj.ejhg.5201625 ID - Yates2006 ER - TY - JOUR AU - Jozwiak, S. AU - Kotulska, K. AU - Kasprzyk-Obara, J. AU - Domańska-Pakieła, D. AU - Tomyn-Drabik, M. AU - Roberts, P. PY - 2006 DA - 2006// TI - Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex JO - Pediatrics VL - 118 UR - https://doi.org/10.1542/peds.2006-0504 DO - 10.1542/peds.2006-0504 ID - Jozwiak2006 ER - TY - JOUR AU - Schwartz, R. A. AU - Fernandez, G. AU - Kotulska, K. AU - Jóźwiak, S. PY - 2007 DA - 2007// TI - Tuberous sclerosis complex: advances in diagnosis, genetics, and management JO - J Am Acad Dermatol VL - 57 UR - https://doi.org/10.1016/j.jaad.2007.05.004 DO - 10.1016/j.jaad.2007.05.004 ID - Schwartz2007 ER - TY - JOUR AU - Orlova, K. A. AU - Crino, P. B. PY - 2010 DA - 2010// TI - The tuberous sclerosis complex JO - Ann N Y Acad Sci VL - 1184 UR - https://doi.org/10.1111/j.1749-6632.2009.05117.x DO - 10.1111/j.1749-6632.2009.05117.x ID - Orlova2010 ER - TY - JOUR AU - Yang, H. AU - Rudge, D. G. AU - Koos, J. D. AU - Vaidialingam, B. AU - Yang, H. J. AU - Pavletich, N. P. PY - 2013 DA - 2013// TI - mTOR kinase structure, mechanism and regulation JO - Nature VL - 497 UR - https://doi.org/10.1038/nature12122 DO - 10.1038/nature12122 ID - Yang2013 ER - TY - JOUR AU - Mackeigan, J. P. AU - Krueger, D. A. PY - 2015 DA - 2015// TI - Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex JO - Neuro Oncol VL - 17 UR - https://doi.org/10.1093/neuonc/nov152 DO - 10.1093/neuonc/nov152 ID - Mackeigan2015 ER - TY - JOUR AU - Johannessen, C. M. AU - Reczek, E. E. AU - James, M. F. AU - Brems, H. AU - Legius, E. AU - Cichowski, K. PY - 2005 DA - 2005// TI - The NF1 tumor suppressor critically regulates TSC2 and mTOR JO - Proc Natl Acad Sci U S A VL - 102 UR - https://doi.org/10.1073/pnas.0503224102 DO - 10.1073/pnas.0503224102 ID - Johannessen2005 ER - TY - JOUR AU - Wu, J. AU - Dombi, E. AU - Jousma, E. PY - 2012 DA - 2012// TI - Preclinical testing of sorafenib and RAD001 in the Nfflox/flox;DhhCre mouse model of plexiform neurofibroma using magnetic resonance imaging JO - Pediatr Blood Cancer VL - 58 UR - https://doi.org/10.1002/pbc.23015 DO - 10.1002/pbc.23015 ID - Wu2012 ER - TY - JOUR AU - Costa-Mattioli, M. AU - Monteggia, L. M. PY - 2013 DA - 2013// TI - mTOR complexes in neurodevelopmental and neuropsychiatric disorders JO - Nat Neurosci VL - 16 UR - https://doi.org/10.1038/nn.3546 DO - 10.1038/nn.3546 ID - Costa-Mattioli2013 ER - TY - JOUR AU - Huang, J. AU - Manning, B. D. PY - 2008 DA - 2008// TI - The TSC1-TSC2 complex: a molecular switchboard controlling cell growth JO - Biochem J VL - 412 UR - https://doi.org/10.1042/BJ20080281 DO - 10.1042/BJ20080281 ID - Huang2008 ER - TY - JOUR AU - Franz, D. N. AU - Leonard, J. AU - Tudor, C. AU - Chuck, G. AU - Care, M. AU - Sethuraman, G. PY - 2006 DA - 2006// TI - Rapamycin causes regression of astrocytomas in tuberous sclerosis complex JO - Ann Neurol VL - 59 UR - https://doi.org/10.1002/ana.20784 DO - 10.1002/ana.20784 ID - Franz2006 ER - TY - JOUR AU - Koenig, M. K. AU - Butler, I. J. AU - Northrup, H. PY - 2008 DA - 2008// TI - Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex JO - J Child Neurol VL - 23 UR - https://doi.org/10.1177/0883073808321764 DO - 10.1177/0883073808321764 ID - Koenig2008 ER - TY - JOUR AU - Dabora, S. L. AU - Franz, D. N. AU - Ashwal, S. AU - Sagalowsky, A. AU - Dimario, F. J. AU - Miles, D. PY - 2011 DA - 2011// TI - Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF-D levels decrease JO - Plos One VL - 6 UR - https://doi.org/10.1371/journal.pone.0023379 DO - 10.1371/journal.pone.0023379 ID - Dabora2011 ER - TY - JOUR AU - Krueger, D. A. AU - Care, M. M. AU - Holland, K. AU - Agricola, K. AU - Tudor, C. AU - Mangeshkar, P. PY - 2010 DA - 2010// TI - Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis JO - N Engl J Med VL - 363 UR - https://doi.org/10.1056/NEJMoa1001671 DO - 10.1056/NEJMoa1001671 ID - Krueger2010 ER - TY - JOUR AU - Krueger, D. A. AU - Care, M. M. AU - Agricola, K. AU - Tudor, C. AU - Mays, M. AU - Franz, D. N. PY - 2013 DA - 2013// TI - Everolimus long-term safety and efficacy in subependymal giant-cell astrocytoma JO - Neurology VL - 80 UR - https://doi.org/10.1212/WNL.0b013e3182815428 DO - 10.1212/WNL.0b013e3182815428 ID - Krueger2013 ER - TY - JOUR AU - Franz, D. N. AU - Belousova, E. AU - Sparagana, S. AU - Bebin, E. M. AU - Frost, M. AU - Kuperman, R. PY - 2013 DA - 2013// TI - 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 JO - Lancet VL - 381 UR - https://doi.org/10.1016/S0140-6736(12)61134-9 DO - 10.1016/S0140-6736(12)61134-9 ID - Franz2013 ER - TY - JOUR AU - Franz, D. N. AU - Belousova, E. AU - Sparagana, S. AU - Bebin, E. M. AU - Frost, M. AU - Kuperman, R. PY - 2014 DA - 2014// TI - Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study JO - Lancet Oncol VL - 15 UR - https://doi.org/10.1016/S1470-2045(14)70489-9 DO - 10.1016/S1470-2045(14)70489-9 ID - Franz2014 ER - TY - JOUR AU - Franz, D. N. AU - Agricola, K. AU - Mays, M. AU - Tudor, C. AU - Care, M. M. AU - Holland-Bouley, K. PY - 2015 DA - 2015// TI - Everolimus for subependymal giant cell astrocytoma: 5-year final analysis JO - Ann Neurol VL - 78 UR - https://doi.org/10.1002/ana.24523 DO - 10.1002/ana.24523 ID - Franz2015 ER - TY - JOUR AU - Franz, D. N. AU - Belousova, E. AU - Sparagana, S. AU - Bebin, E. M. AU - Frost, M. D. AU - Kuperman, R. PY - 2016 DA - 2016// TI - Long-term use of everolimus in patients with tuberous sclerosis complex: final results from the EXIST-1 study JO - Plos One VL - 11 UR - https://doi.org/10.1371/journal.pone.0158476 DO - 10.1371/journal.pone.0158476 ID - Franz2016 ER - TY - BOOK PY - 2016 DA - 2016// TI - Afinitor [package insert] PB - Novartis Pharmaceutical Corporation CY - East Hanover ID - ref39 ER - TY - JOUR AU - Bissler, J. J. AU - Kingswood, J. C. AU - Radzikowska, E. AU - Zonnenberg, B. A. AU - Frost, M. AU - Belousova, E. PY - 2013 DA - 2013// TI - Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial JO - Lancet VL - 381 UR - https://doi.org/10.1016/S0140-6736(12)61767-X DO - 10.1016/S0140-6736(12)61767-X ID - Bissler2013 ER - TY - JOUR AU - Kingswood, J. C. AU - Jozwiak, S. AU - Belousova, E. D. AU - Frost, M. D. AU - Kuperman, R. A. AU - Bebin, E. M. PY - 2014 DA - 2014// TI - The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1 JO - Nephrol Dial Transplant VL - 29 UR - https://doi.org/10.1093/ndt/gfu013 DO - 10.1093/ndt/gfu013 ID - Kingswood2014 ER - TY - JOUR AU - Bissler, J. J. AU - Kingswood, J. C. AU - Radzikowska, E. AU - Zonnenberg, B. A. AU - Frost, M. AU - Belousova, E. PY - 2015 DA - 2015// TI - Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial JO - Nephrol Dial Transplant VL - 31 UR - https://doi.org/10.1093/ndt/gfv249 DO - 10.1093/ndt/gfv249 ID - Bissler2015 ER - TY - BOOK AU - Bissler, J. J. AU - Radzikowska, E. AU - Zonnenberg, B. A. AU - Belousova, E. AU - Frost, M. D. AU - Sauter, M. PY - 2016 DA - 2016// TI - Everolimus for renal angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: final long-term results from EXIST-2 PB - Presented at the 31st European Association of Urology (EAU) Annual Congress CY - Munich ID - Bissler2016 ER - TY - JOUR AU - Bissler, J. J. AU - McCormack, F. X. AU - Young, L. R. AU - Elwing, J. M. AU - Chuck, G. AU - Leonard, J. M. PY - 2008 DA - 2008// TI - Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis JO - N Engl J Med VL - 358 UR - https://doi.org/10.1056/NEJMoa063564 DO - 10.1056/NEJMoa063564 ID - Bissler2008 ER - TY - JOUR AU - Davies, D. M. AU - Vries, P. J. AU - Johnson, S. R. AU - McCartney, D. L. AU - Cox, J. A. AU - Serra, A. L. PY - 2011 DA - 2011// TI - Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial JO - Clin Cancer Res VL - 17 UR - https://doi.org/10.1158/1078-0432.CCR-11-0445 DO - 10.1158/1078-0432.CCR-11-0445 ID - Davies2011 ER - TY - JOUR AU - Cabrera-Lopez, C. AU - Marti, T. AU - Catala, V. AU - Torres, F. AU - Mateu, S. AU - Ballarín, J. PY - 2012 DA - 2012// TI - Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a 2 years trial JO - Orphanet J Rare Dis VL - 7 UR - https://doi.org/10.1186/1750-1172-7-87 DO - 10.1186/1750-1172-7-87 ID - Cabrera-Lopez2012 ER - TY - JOUR AU - McCormack, F. X. AU - Inoue, Y. AU - Moss, J. AU - Singer, L. G. AU - Strange, C. AU - Nakata, K. PY - 2011 DA - 2011// TI - Efficacy and safety of sirolimus in lymphangioleiomyomatosis JO - N Engl J Med VL - 364 UR - https://doi.org/10.1056/NEJMoa1100391 DO - 10.1056/NEJMoa1100391 ID - McCormack2011 ER - TY - JOUR AU - Ando, K. AU - Kurihara, M. AU - Kataoka, H. AU - Ueyama, M. AU - Togo, S. AU - Sato, T. PY - 2013 DA - 2013// TI - The efficacy and safety of low-dose sirolimus for treatment of lymphangioleiomyomatosis JO - Respir Investig VL - 51 UR - https://doi.org/10.1016/j.resinv.2013.03.002 DO - 10.1016/j.resinv.2013.03.002 ID - Ando2013 ER - TY - JOUR AU - Yao, J. AU - Taveira-Dasilva, A. M. AU - Jones, A. M. AU - Julien-Williams, P. AU - Stylianou, M. AU - Moss, J. PY - 2014 DA - 2014// TI - Sustained effects of sirolimus on lung function and cystic lung lesions in lymphangioleiomyomatosis JO - Am J Respir Crit Care Med VL - 190 UR - https://doi.org/10.1164/rccm.201405-0918OC DO - 10.1164/rccm.201405-0918OC ID - Yao2014 ER - TY - JOUR AU - Goldberg, H. J. AU - Harari, S. AU - Cottin, V. AU - Rosas, I. O. AU - Peters, E. AU - Biswal, S. PY - 2015 DA - 2015// TI - Everolimus for the treatment of lymphangioleiomyomatosis: a phase II study JO - Eur Respir J VL - 46 UR - https://doi.org/10.1183/09031936.00210714 DO - 10.1183/09031936.00210714 ID - Goldberg2015 ER - TY - BOOK PY - 2015 DA - 2015// TI - Rapamune [package insert] PB - Wyeth Pharmaceuticals Inc CY - Philadelphia ID - ref51 ER - TY - JOUR AU - Muncy, J. AU - Butler, I. J. AU - Koenig, M. K. PY - 2009 DA - 2009// TI - Rapamycin reduces seizure frequency in tuberous sclerosis complex JO - J Child Neurol VL - 24 UR - https://doi.org/10.1177/0883073808324535 DO - 10.1177/0883073808324535 ID - Muncy2009 ER - TY - JOUR AU - Canpolat, M. AU - Per, H. AU - Gumus, H. AU - Yikilmaz, A. AU - Unal, E. AU - Patiroglu, T. PY - 2014 DA - 2014// TI - Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86 JO - Childs Nerv Syst VL - 30 UR - https://doi.org/10.1007/s00381-013-2185-6 DO - 10.1007/s00381-013-2185-6 ID - Canpolat2014 ER - TY - JOUR AU - Cardamone, M. AU - Flanagan, D. AU - Mowat, D. AU - Kennedy, S. E. AU - Chopra, M. AU - Lawson, J. A. PY - 2014 DA - 2014// TI - Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex JO - J Pediatr VL - 164 UR - https://doi.org/10.1016/j.jpeds.2013.12.053 DO - 10.1016/j.jpeds.2013.12.053 ID - Cardamone2014 ER - TY - JOUR AU - Overwater, I. E. AU - Reitman, A. B. AU - Bindels-De Heus, K. AU - Looman, C. W. AU - Rizopoulos, D. AU - Sibindi, T. M. PY - 2016 DA - 2016// TI - Sirolimus for epilepsy in children with tuberous sclerosis complex: a randomized controlled trial JO - Neurology VL - 87 UR - https://doi.org/10.1212/WNL.0000000000003077 DO - 10.1212/WNL.0000000000003077 ID - Overwater2016 ER - TY - JOUR AU - Krueger, D. A. AU - Wilfong, A. A. AU - Holland-Bouley, K. AU - Anderson, A. E. AU - Agricola, K. AU - Tudor, C. PY - 2013 DA - 2013// TI - Everolimus treatment of refractory epilepsy in tuberous sclerosis complex JO - Ann Neurol VL - 74 UR - https://doi.org/10.1002/ana.23960 DO - 10.1002/ana.23960 ID - Krueger2013 ER - TY - JOUR AU - French, J. A. AU - Lawson, J. A. AU - Yapici, Z. AU - Ikeda, H. AU - Polster, T. AU - Nabbout, R. PY - 2016 DA - 2016// TI - Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study JO - Lancet VL - 388 UR - https://doi.org/10.1016/S0140-6736(16)31419-2 DO - 10.1016/S0140-6736(16)31419-2 ID - French2016 ER - TY - STD TI - Schneider M, de Vries PJ, Schonig K, Rößner V, Waltereit R. mTOR inhibitor reverses autistic-like social deficit behaviours in adult rats with both Tsc2 haploinsufficiency and developmental status epilepticus. Eur Arch Psychiatry Clin Neurosci. 2016 Jun 4. [Epub ahead of print]. doi:10.1007/s00406-016-0703-8. ID - ref58 ER - TY - JOUR AU - Hwang, S. K. AU - Lee, J. H. AU - Yang, J. E. AU - Lim, C. S. AU - Lee, J. A. AU - Lee, Y. S. PY - 2016 DA - 2016// TI - Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation JO - Mol Brain VL - 9 UR - https://doi.org/10.1186/s13041-016-0222-6 DO - 10.1186/s13041-016-0222-6 ID - Hwang2016 ER - TY - JOUR AU - Ruhoy, I. S. AU - Saneto, R. P. PY - 2014 DA - 2014// TI - The genetics of Leigh syndrome and its implications for clinical practice and risk management JO - Appl Clin Genet VL - 7 ID - Ruhoy2014 ER - TY - JOUR AU - Johnson, S. C. AU - Yanos, M. E. AU - Kayser, E. B. AU - Quintana, A. AU - Sangesland, M. AU - Castanza, A. PY - 2013 DA - 2013// TI - mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome JO - Science VL - 342 UR - https://doi.org/10.1126/science.1244360 DO - 10.1126/science.1244360 ID - Johnson2013 ER - TY - JOUR AU - Zheng, X. AU - Boyer, L. AU - Jin, M. AU - Kim, Y. AU - Fan, W. AU - Bardy, C. PY - 2016 DA - 2016// TI - Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration JO - Elife VL - 23 ID - Zheng2016 ER - TY - JOUR AU - Troca-Marin, J. A. AU - Alves-Sampaio, A. AU - Montesinos, M. L. PY - 2012 DA - 2012// TI - Deregulated mTOR-mediated translation in intellectual disability JO - Prog Neurobiol VL - 96 UR - https://doi.org/10.1016/j.pneurobio.2012.01.005 DO - 10.1016/j.pneurobio.2012.01.005 ID - Troca-Marin2012 ER - TY - JOUR AU - Troca-Marin, J. A. AU - Alves-Sampaio, A. AU - Montesinos, M. L. PY - 2011 DA - 2011// TI - An increase in basal BDNF provokes hyperactivation of the Akt-mammalian target of rapamycin pathway and deregulation of local dendritic translation in a mouse model of Down’s syndrome JO - J Neurosci VL - 31 UR - https://doi.org/10.1523/JNEUROSCI.0011-11.2011 DO - 10.1523/JNEUROSCI.0011-11.2011 ID - Troca-Marin2011 ER - TY - JOUR AU - Perluigi, M. AU - Pupo, G. AU - Tramutola, A. AU - Cini, C. AU - Coccia, R. AU - Barone, E. PY - 2014 DA - 2014// TI - Neuropathological role of PI3K/Akt/mTOR axis in Down syndrome brain JO - Biochim Biophys Acta VL - 1842 UR - https://doi.org/10.1016/j.bbadis.2014.04.007 DO - 10.1016/j.bbadis.2014.04.007 ID - Perluigi2014 ER - TY - JOUR AU - Tramutola, A. AU - Lanzillotta, C. AU - Arena, A. AU - Barone, E. AU - Perluigi, M. AU - Domenico, F. PY - 2016 DA - 2016// TI - Increased Mammalian Target of Rapamycin Signaling Contributes to the Accumulation of Protein Oxidative Damage in a Mouse Model of Down’s Syndrome JO - Neurodegener Dis VL - 16 UR - https://doi.org/10.1159/000441419 DO - 10.1159/000441419 ID - Tramutola2016 ER - TY - JOUR AU - Gerber, P. A. AU - Antal, A. S. AU - Neumann, N. J. AU - Homey, B. AU - Matuschek, C. AU - Peiper, M. PY - 2009 DA - 2009// TI - Neurofibromatosis JO - Eur J Med Res VL - 14 ID - Gerber2009 ER - TY - JOUR AU - Weiss, B. AU - Widemann, B. C. AU - Wolters, P. AU - Dombi, E. AU - Vinks, A. AU - Cantor, A. PY - 2015 DA - 2015// TI - Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study JO - Neuro Oncol VL - 17 UR - https://doi.org/10.1093/neuonc/nou235 DO - 10.1093/neuonc/nou235 ID - Weiss2015 ER - TY - JOUR AU - Weiss, B. AU - Widemann, B. C. AU - Wolters, P. AU - Dombi, E. AU - Vinks, A. A. AU - Cantor, A. PY - 2014 DA - 2014// TI - Sirolimus for non-progressive NF1-associated plexiform neurofibromas: an NF Clinical Trials Consortium phase II study JO - Pediatr Blood Cancer VL - 61 UR - https://doi.org/10.1002/pbc.24873 DO - 10.1002/pbc.24873 ID - Weiss2014 ER - TY - JOUR AU - Hua, C. AU - Zehou, O. AU - Ducassou, S. AU - Minard-Colin, V. AU - Hamel-Teillac, D. AU - Wolkenstein, P. PY - 2014 DA - 2014// TI - Sirolimus improves pain in NF1 patients with severe plexiform neurofibromas JO - Pediatrics VL - 133 UR - https://doi.org/10.1542/peds.2013-1224 DO - 10.1542/peds.2013-1224 ID - Hua2014 ER - TY - JOUR AU - James, M. F. AU - Han, S. AU - Polizzano, C. AU - Plotkin, S. R. AU - Manning, B. D. AU - Stemmer-Rachamimov, A. O. PY - 2009 DA - 2009// TI - NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth JO - Mol Cell Biol VL - 29 UR - https://doi.org/10.1128/MCB.01581-08 DO - 10.1128/MCB.01581-08 ID - James2009 ER - TY - JOUR AU - Giovannini, M. AU - Bonne, N. X. AU - Vitte, J. AU - Chareyre, F. AU - Tanaka, K. AU - Adams, R. PY - 2014 DA - 2014// TI - mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma JO - Neuro Oncol VL - 16 UR - https://doi.org/10.1093/neuonc/not242 DO - 10.1093/neuonc/not242 ID - Giovannini2014 ER - TY - JOUR AU - Karajannis, M. A. AU - Legault, G. AU - Hagiwara, M. AU - Giancotti, F. G. AU - Filatov, A. AU - Derman, A. PY - 2014 DA - 2014// TI - Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas JO - Neuro Oncol VL - 16 UR - https://doi.org/10.1093/neuonc/not150 DO - 10.1093/neuonc/not150 ID - Karajannis2014 ER - TY - JOUR AU - Bissler, J. J. AU - Kingswood, J. C. AU - Radzikowska, E. AU - Zonnenberg, B. A. AU - Frost, M. AU - Belousova, E. PY - 2016 DA - 2016// TI - Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial JO - Nephrol Dial Transplant VL - 31 UR - https://doi.org/10.1093/ndt/gfv249 DO - 10.1093/ndt/gfv249 ID - Bissler2016 ER - TY - JOUR AU - Jozwiak, S. AU - Kotulska, K. AU - Berkowitz, N. AU - Brechenmacher, T. AU - Franz, D. N. PY - 2016 DA - 2016// TI - Safety of everolimus in patients younger than 3 years of age: results from EXIST-1, a randomized, controlled clinical trial JO - J Pediatr VL - 172 UR - https://doi.org/10.1016/j.jpeds.2016.01.027 DO - 10.1016/j.jpeds.2016.01.027 ID - Jozwiak2016 ER - TY - BOOK AU - Bissler, J. J. AU - Nonomora, N. AU - Budde, K. AU - Zonnenberg, B. A. AU - Fischereder, M. AU - Berkowitz, N. PY - 2016 DA - 2016// TI - Evaluation of angiomyolipoma tumor behavior after termination of everolimus treatment: results of a subanalysis from EXIST-2 PB - Presented at the European Renal Association – European Dialysis and Transplantation (ERA-EDTA) 53rd Congress CY - Vienna ID - Bissler2016 ER - TY - JOUR AU - Kranz, B. AU - Wingen, A. M. AU - Vester, U. AU - König, J. AU - Hoyer, P. F. PY - 2013 DA - 2013// TI - Long-term side effects of treatment with mTOR inhibitors in children after renal transplantation JO - Pediatr Nephrol VL - 28 UR - https://doi.org/10.1007/s00467-013-2459-y DO - 10.1007/s00467-013-2459-y ID - Kranz2013 ER -