The Tuberous Sclerosis Complex

Mutation and cancer: statistical study of retinoblastoma

Knudson, A. G. (1971) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.68.4.820 · Cited by 7,612

TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival

Inoki, K., Zhu, T., & Guan, K.-L. (2003) · Cell · doi:10.1016/s0092-8674(03)00929-2 · Cited by 3,914

Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling

Inoki, K., Li, Y., Xu, T., & Guan, K.-L. (2003) · Genes & Development · doi:10.1101/gad.1110003 · Cited by 1,911

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

Slegtenhorst, M. V., Hoogt, R. D., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., Ouweland, A. V. D., Halley, D., Young, J., et al. (1997) · Science · doi:10.1126/science.277.5327.805 · Cited by 1,648

Identification and characterization of the tuberous sclerosis gene on chromosome 16

(1993) · Cell · doi:10.1016/0092-8674(93)90618-z · Cited by 1,645

Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway

Manning, B. D., Tee, A. R., Logsdon, M. N., Blenis, J., & Cantley, L. C. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00568-3 · Cited by 1,555

Phosphorylation and Functional Inactivation of TSC2 by Erk

Ma, L., Chen, Z., Erdjument-Bromage, H., Tempst, P., & Pandolfi, P. P. (2005) · Cell · doi:10.1016/j.cell.2005.02.031 · Cited by 1,268

Target of rapamycin (TOR): an integrator of nutrient and growth factor signals and coordinator of cell growth and cell cycle progression

Fingar, D. C., & Blenis, J. (2004) · Oncogene · doi:10.1038/sj.onc.1207542 · Cited by 1,264

The LKB1 tumor suppressor negatively regulates mTOR signaling

Shaw, R. J., Bardeesy, N. M., Manning, B. D., Lopez, L. V., Kosmatka, M., DePinho, R. A., & Cantley, L. C. (2004) · Cancer Cell · doi:10.1016/j.ccr.2004.06.007 · Cited by 1,107

Radiological evidence of lymphangioleiomyomatosis in female and male patients with tuberous sclerosis complex

Adriaensen, M. E. A. P. M., Schaefer‐Prokop, C. M., Duyndam, D., Zonnenberg, B. A., & Prokop, M. (2011) · Clinical Radiology · doi:10.1016/j.crad.2011.02.009 · Cited by 114

Friend or foe: high bone mineral density on routine bone density scanning, a review of causes and management

Gregson, C. L., Hardcastle, S., Cooper, C. C., & Tobias, J. H. (2013) · Rheumatology · doi:10.1093/rheumatology/ket007 · Cited by 118

STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice

Orlova, K. A., Parker, W. E., Heuer, G. G., Tsai, V., Yoon, J. T., Baybis, M., Fenning, R. S., Strauss, K. A., & Crino, P. B. (2010) · Journal of Clinical Investigation · doi:10.1172/jci41592 · Cited by 114

mTOR Inhibitors in Tuberous Sclerosis Complex

Curatolo, P., & Moavero, R. (2012) · Current Neuropharmacology · doi:10.2174/157015912804143595 · Cited by 114

Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs

Overwater, I. E., Heus, K. B., Rietman, A. B., ten Hoopen, L. W., Vergouwe, Y., Moll, H. A., & de Wit, M. Y. (2015) · Epilepsia · doi:10.1111/epi.13050 · Cited by 111

Rhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases

Sciacca, P., Giacchi, V., Mattia, C., Greco, F., Smilari, P., Betta, P., & Distefano, G. (2014) · BMC Cardiovascular Disorders · doi:10.1186/1471-2261-14-66 · Cited by 111

Interplay Between pVHL and mTORC1 Pathways in Clear-Cell Renal Cell Carcinoma

Kucejová, B., Peña‐Llopis, S., Yamasaki, T., Sivanand, S., Tran, T. A. T., Alexander, S., Wolff, N. C., Lotan, Y., Xie, X.-J., Kabbani, W., et al. (2011) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-11-0302 · Cited by 118

Targeted Treatments for Cognitive and Neurodevelopmental Disorders in Tuberous Sclerosis Complex

de Vries, P. J. (2010) · Neurotherapeutics · doi:10.1016/j.nurt.2010.05.001 · Cited by 110

Genetic control of postnatal human brain growth

van Dyck, L. I., & Morrow, E. M. (2016) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000405 · Cited by 114

Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex

Am, L., Hedgire, S., Deshpande, V., Stemmer‐Rachamimov, A., Harisinghani, M., Ferrone, C., Shah, U. S., & Thiele, E. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01805.x · Cited by 109

Developmental brain abnormalities in tuberous sclerosis complex: A comparative tissue analysis of cortical tubers and perituberal cortex

Ruppe, V., Dilsiz, P., Reiss, C. S., Carlson, C., Devinsky, O., Zagzag, D., Weiner, H. L., & Talos, D. M. (2014) · Epilepsia · doi:10.1111/epi.12545 · Cited by 108

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness

Kingswood, J. C., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M. G., ́Amato, L. D., d’Augères, G. B., de Vries, P. J., et al. (2018) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfy063 · Cited by 109

Long‐term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open‐label extension trial

Thiele, E. A., Bebin, E. M., Filloux, F. M., Kwan, P., Loftus, R., Sahebkar, F., Sparagana, S. P., & Wheless, J. W. (2021) · Epilepsia · doi:10.1111/epi.17150 · Cited by 114

Autism spectrum disorders: The quest for genetic syndromes

Zafeiriou, D., Ververi, A., Dafoulis, V., Kalyva, E., & Vargìami, E. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32152 · Cited by 116

Hereditary Renal Cancer Syndromes: An Update of a Systematic Review

Verine, J., Pluvinage, A., Bousquet, G., Lehmann‐Che, J., de BAZELAIRE, C., Soufir, N., & Mongiat-Artus, P. (2010) · European Urology · doi:10.1016/j.eururo.2010.08.031 · Cited by 107

Epilepsy and AutismPreprint

Buckley, A. W., & Holmes, G. L. (2016) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a022749 · Cited by 114

Tuberous sclerosis: A primary pathology of astrocytes?

Sosunov, A. A., Wu, X., Weiner, H. L., Mikell, C. B., Goodman, R. R., Crino, P. D., & McKhann, G. M. (2008) · Epilepsia · doi:10.1111/j.1528-1167.2008.01493.x · Cited by 106

TSC2 regulates lysosome biogenesis via a non-canonical RAGC and TFEB-dependent mechanism

Alesi, N., Akl, E. W., Khabibullin, D., Liu, H.-J., Nidhiry, A. S., Garner, E. R., Filippakis, H., Lam, H. C., Shi, W., Viswanathan, S. R., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24499-6 · Cited by 106

Clinical Presentation and Diagnosis of Tuberous Sclerosis Complex in Infancy

Datta, A., Hahn, C. D., & Şahin, M. (2008) · Journal of Child Neurology · doi:10.1177/0883073807309250 · Cited by 106

Perivascular epithelioid tumours (PEComas) of the gynaecological tract

Conlon, N., Soslow, R. A., & Murali, R. (2015) · Journal of Clinical Pathology · doi:10.1136/jclinpath-2015-202945 · Cited by 106

Resistance to mTORC1 Inhibitors in Cancer Therapy: From Kinase Mutations to Intratumoral Heterogeneity of Kinase Activity

Faes, S., Demartines, N., & Dormond, O. (2017) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2017/1726078 · Cited by 104

Germline PTEN Mutation Cowden Syndrome: An Underappreciated Form of Hereditary Kidney Cancer

Shuch, B. M., Ricketts, C. J., Vocke, C. D., Komiya, T., Middelton, L. A., KAUFFMAN, E. C., Merino, M. J., Metwalli, A. R., Dennis, P. A., & Linehan, W. M. (2013) · The Journal of Urology · doi:10.1016/j.juro.2013.06.012 · Cited by 104

MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex

Gallagher, A., Grant, P. E., Madan, N., Jarrett, D. Y., Lyczkowski, D. A., & Thiele, E. A. (2010) · Journal of Neurology · doi:10.1007/s00415-010-5535-2 · Cited by 103

Deregulated mTOR-mediated translation in intellectual disability

Troca-Marín, J. A., Alves-Sampaio, A., & Montesinos, M. L. (2012) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2012.01.005 · Cited by 109

Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN

Hasumi, H., Baba, M., Hasumi, Y., Huang, Y. K., Oh, H., Hughes, R. M., Klein, M. E., Takikita, S., Nagashima, K., Schmidt, L. S., et al. (2012) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djs418 · Cited by 101

Target-of-rapamycin complex 1 (Torc1) signaling modulates cilia size and function through protein synthesis regulation

Yuan, S., Li, J., Diener, D. R., Choma, M. A., Rosenbaum, J. L., & Sun, Z. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1112834109 · Cited by 98

Prospects for mTOR Inhibitor Use in Patients with Polycystic Kidney Disease and Hamartomatous Diseases

Torres, V. E., Boletta, A., Chapman, A. B., Gattone, V. H., Pei, Y., Qian, Q., Wallace, D. P., Weimbs, T., & Wuthrich, R. P. (2010) · Clinical Journal of the American Society of Nephrology · doi:10.2215/cjn.01360210 · Cited by 101

The role of cullin 5-containing ubiquitin ligases

Okumura, F., Akiko, J.-O., Nakatsukasa, K., & Kamura, T. (2016) · Cell Division · doi:10.1186/s13008-016-0016-3 · Cited by 99

Loss of CLOCK Results in Dysfunction of Brain Circuits Underlying Focal Epilepsy

Li, P., Fu, X., Smith, N., Ziobro, J. M., Curiel, J., Tenga, M. J., Martin, B. S., Freedman, S., Rio, C. A. C.-D., Oboti, L., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.09.044 · Cited by 99

Tuberous sclerosis: a review of the past, present, and future

Uysal, S. P., & Şahin, M. (2020) · TURKISH JOURNAL OF MEDICAL SCIENCES · doi:10.3906/sag-2002-133 · Cited by 108

Severity of manifestations in t uberous sclerosis c omplex in relation to genotype

Kothare, S. V., Singh, K., Chalifoux, J. R., Staley, B. A., Weiner, H. L., Menzer, K., & Devinsky, O. (2014) · Epilepsia · doi:10.1111/epi.12680 · Cited by 99

Adult Renal Cystic Disease: A Genetic, Biological, and Developmental Primer

Katabathina, V. S., Kota, G., Dasyam, A. K., Shanbhogue, K., & Prasad, S. R. (2010) · Radiographics · doi:10.1148/rg.306105513 · Cited by 99

Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

Ercan-Herbst, E., Han, J. M., Nardo, A. D., Winden, K. D., Han, M., Hoyo, L., Saffari, A., Leask, A., Geschwind, D. H., & Şahin, M. (2017) · The Journal of Experimental Medicine · doi:10.1084/jem.20160446 · Cited by 99

New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives

Mühlebner, A., Bongaarts, A., Sarnat, H. B., Scholl, T. O., & Aronica, E. (2019) · Journal of Anatomy · doi:10.1111/joa.12956 · Cited by 98

The tuberous sclerosis complex proteins – a GRIPP on cognition and neurodevelopment

de Vries, P. J., & Howe, C. J. (2007) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2007.06.003 · Cited by 84

Focal brain malformations: Seizures, signaling, sequencing

Crino, P. B. (2009) · Epilepsia · doi:10.1111/j.1528-1167.2009.02289.x · Cited by 98

Occurrence of Morpholine in Central Nervous System Drug Discovery

Lenci, E., Calugi, L., & Trabocchi, A. (2021) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.0c00729 · Cited by 99

Cellular and synaptic network defects in autism

Peça, J., & Feng, G. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2012.02.015 · Cited by 96

Targeting the PI3K/AKT/mTOR Pathway: Biomarkers of Success and Tribulation

Owonikoko, T. K., & Khuri, F. R. (2013) · American Society of Clinical Oncology Educational Book · doi:10.1200/edbook_am.2013.33.e395 · Cited by 97

Focal malformations of cortical development: New vistas for molecular pathogenesis

Lim, K., & Crino, P. B. (2013) · Neuroscience · doi:10.1016/j.neuroscience.2013.07.037 · Cited by 98

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

Qin, W., Kozłowski, P., Taillon, B. E., Bouffard, P., Tisch, A. H., Janne, P. A., Camposano, S. E., Thiele, E. A., Franz, D. N., & Kwiatkowski, D. J. (2010) · Human Genetics · doi:10.1007/s00439-010-0801-z · Cited by 95

Metabolic alterations in renal cell carcinoma

Massari, F., Ciccarese, C., Santoni, M., Brunelli, M., Piva, F., Modena, A., Bimbatti, D., Fantinel, E., Santini, D., Liang Cheng, C., et al. (2015) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2015.07.002 · Cited by 99

mTOR Inhibition in Epilepsy: Rationale and Clinical Perspectives

Ostendorf, A. P., & Wong, M. (2015) · CNS Drugs · doi:10.1007/s40263-014-0223-x · Cited by 96

The 2010 Revised Classification of Seizures and Epilepsy

Berg, A. T., & Millichap, J. G. (2013) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/01.con.0000431377.44312.9e · Cited by 95

Vigabatrin‐associated reversible MRI signal changes in patients with infantile spasms

Dracopoulos, A., Widjaja, E., Raybaud, C., Westall, C. A., & Snead, O. C. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02564.x · Cited by 95

Diagnosis and Screening of Autosomal Dominant Polycystic Kidney Disease

Pei, Y., & Watnick, T. J. (2010) · Advances in Chronic Kidney Disease · doi:10.1053/j.ackd.2009.12.001 · Cited by 95

The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD)

Kingswood, J. C., Bolton, P., Crawford, P. M., Harland, C. C., Johnson, S. R., Sampson, J. R., Shepherd, C., Spink, J., Demuth, D., Lucchese, L., et al. (2015) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2015.11.011 · Cited by 95

Therapeutic targeting of mTOR in tuberous sclerosis

Sampson, J. R. (2009) · Biochemical Society Transactions · doi:10.1042/bst0370259 · Cited by 94

Epilepsy Related to Developmental Tumors and Malformations of Cortical Development

Aronica, E., & Crino, P. B. (2014) · Neurotherapeutics · doi:10.1007/s13311-013-0251-0 · Cited by 99

Targeting the genetic alterations of the PI3K–AKT–mTOR pathway: Its potential use in the treatment of bladder cancers

Houédé, N., & Pourquier, P. (2014) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2014.06.004 · Cited by 94

Pneumothorax

Huan, N., Sidhu, C., & Thomas, R. (2021) · Clinics in Chest Medicine · doi:10.1016/j.ccm.2021.08.007 · Cited by 102

Clinical Predictors of Mortality and Cause of Death in Lymphangioleiomyomatosis: A Population-based Registry

Oprescu, N., McCormack, F. X., Byrnes, S., & Kinder, B. (2012) · Lung · doi:10.1007/s00408-012-9419-3 · Cited by 92

Tuberous Sclerosis Complex–Associated Angiomyolipomas: Focus on mTOR Inhibition

Budde, K., & Gaedeke, J. (2011) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2011.10.013 · Cited by 93

Differentiation between Birt–Hogg–Dubé syndrome and lymphangioleiomyomatosis: Quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females

Tobino, K., Hirai, T., Johkoh, T., Kurihara, M., Fujimoto, K., Tomiyama, N., Mishima, M., Takahashi, K., & Seyama, K. (2011) · European Journal of Radiology · doi:10.1016/j.ejrad.2011.03.039 · Cited by 93

Discovery and Preclinical Characterization of 5-[4,6-Bis({3-oxa-8-azabicyclo[3.2.1]octan-8-yl})-1,3,5-triazin-2-yl]-4-(difluoromethyl)pyridin-2-amine (PQR620), a Highly Potent and Selective mTORC1/2 Inhibitor for Cancer and Neurological Disorders

Rageot, D., Bohnacker, T., Melone, A., Langlois, J.-B., Borsari, C., Hillmann, P., Sele, A., Beaufils, F., Zvelebil, M., Hebeisen, P., et al. (2018) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.8b01262 · Cited by 91

Development of everolimus, a novel oral mTOR inhibitor, across a spectrum of diseases

Lebwohl, D., Anak, Ö., Sahmoud, T., Klimovsky, J., Elmroth, I., Haas, T., Posluszny, J. A., Saletan, S., & Berg, W. J. (2013) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12122 · Cited by 92

A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits

Feliciano, D. M., Lin, T. V., Hartman, N. W., Bartley, C. M., Kubera, C., Hsieh, L. S., Lafourcade, C., O’Keefe, R. A., & Bordey, A. (2013) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2013.02.008 · Cited by 95

The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex

Way, S. W., Rozas, N. S., Wu, H. C., McKenna, J., Reith, R. M., Hashmi, S. S., Dash, P. K., & Gambello, M. J. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds156 · Cited by 94

A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons

Lin, Y., Frei, J. A., Kilander, M. B. C., Shen, W., & Blatt, G. J. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2016.00263 · Cited by 97

RAS: Target for Cancer Therapy

Saxena, N., Lahiri, S. S., Hambarde, S., & Tripathi, R. P. (2008) · Cancer Investigation · doi:10.1080/07357900802087275 · Cited by 92

Rheb/mTORC1 Signaling Promotes Kidney Fibroblast Activation and Fibrosis

Jiang, L., Xu, L., Mao, J., Li, J., Fang, L., Zhou, Y., Liu, W., He, W., Zhao, A. Z., Yang, J., et al. (2013) · Journal of the American Society of Nephrology · doi:10.1681/asn.2012050476 · Cited by 92

The mTOR Signaling Pathway in the Brain: Focus on Epilepsy and Epileptogenesis

Russo, E., Citraro, R., Constanti, A., & Sarro, G. D. (2012) · Molecular Neurobiology · doi:10.1007/s12035-012-8314-5 · Cited by 91

Clinical significance of T cell metabolic reprogramming in cancer

Herbel, C., Patsoukis, N., Bardhan, K., Seth, P., Weaver, J. D., & Boussiotis, V. A. (2016) · Clinical and Translational Medicine · doi:10.1186/s40169-016-0110-9 · Cited by 99

Distinct Roles for Mammalian Target of Rapamycin Complexes in the Fibroblast Response to Transforming Growth Factor-β

Rahimi, R. A., Andrianifahanana, M., Wilkes, M. C., Edens, M., Kottom, T. J., Blenis, J., & Leof, E. B. (2008) · Cancer Research · doi:10.1158/0008-5472.can-08-2146 · Cited by 91

Impaired astrocytic gap junction coupling and potassium buffering in a mouse model of tuberous sclerosis complex

Xu, L., Zeng, L., & Wong, M. (2009) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.01.010 · Cited by 90

Control of ovarian primordial follicle activation

Kim, J. Y. (2012) · Daehan saengsik uihak hoeji/Clinical and experimental reproductive medicine · doi:10.5653/cerm.2012.39.1.10 · Cited by 89

Roles for neuronal and glial autophagy in synaptic pruning during development

Lieberman, O. J., McGuirt, A. F., Tang, G., & Sulzer, D. (2019) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.04.017 · Cited by 87

Perfect match: mTOR inhibitors and tuberous sclerosis complex

Luo, C., Ye, W.-R., Shi, W., Yin, P., Chen, C., He, Y., Chen, M., Zu, X., & Cai, Y. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02266-0 · Cited by 99

Tumor suppressor Tsc1 is a new Hsp90 co‐chaperone that facilitates folding of kinase and non‐kinase clients

Woodford, M. R., Sager, R., Marris, E. T., Dunn, D. M., Blanden, A. R., Murphy, R. L., Rensing, N. R., Shapiro, O., Panaretou, B., Prodromou, C., et al. (2017) · The EMBO Journal · doi:10.15252/embj.201796700 · Cited by 89

TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

Kingswood, J. C., Bruzzi, P., Curatolo, P., de Vries, P. J., Fladrowski, C., Hertzberg, C., Jansen, A., Jóźwiak, S., Nabbout, R., Sauter, M., et al. (2014) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-014-0182-9 · Cited by 88

Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex

Jeste, S., Wu, J. Y., Şentürk, D., Varcin, K. J., Ko, J. A., McCarthy, B., Shimizu, C., Dies, K. A., Vogel‐Farley, V. K., Şahin, M., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000568 · Cited by 96

Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex

Mühlebner, A., van Scheppingen, J., Hulshof, H. M., Scholl, T., Iyer, A. M., Anink, J. J., van den Ouweland, A. M. W., Nellist, M. D., Jansen, F. E., Spliet, W. G. M., et al. (2016) · PLOS ONE · doi:10.1371/journal.pone.0157396 · Cited by 88

Ten uncommon and unusual variants of renal angiomyolipoma (AML): radiologic–pathologic correlation

Schieda, N., Kielar, A. Z., Dandan, O. S. A., McInnes, M. D. F., & Flood, T. A. (2014) · Clinical Radiology · doi:10.1016/j.crad.2014.10.001 · Cited by 87

Non‐canonical functions of the tuberous sclerosis complex‐Rheb signalling axis

Neuman, N. A., & Henske, E. P. (2011) · EMBO Molecular Medicine · doi:10.1002/emmm.201100131 · Cited by 87

The Uniqueness of Clear Cell Renal Cell Carcinoma: Summary of the Process and Abnormality of Glucose Metabolism and Lipid Metabolism in ccRCC

Qi, X., Li, Q., Che, X., Wang, Q., & Wu, G. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.727778 · Cited by 86

Cytoarchitectural alterations are widespread in cerebral cortex in tuberous sclerosis complex

Marcotte, L. M., Aronica, E., Baybis, M., & Crino, P. B. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-0950-3 · Cited by 86

Tuberous Sclerosis Tumor Suppressor Complex-like Complexes Act as GTPase-activating Proteins for Ral GTPases

Shirakawa, R., Fukai, S., Kawato, M., Higashi, T., Kondo, H., Ikeda, T., Nakayama, E., Okawa, K., Nureki, O., Kimura, T., et al. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.012112 · Cited by 89

PI3K/mTORC1 activation in hamartoma syndromes: Therapeutic prospects

Krymskaya, V. P., & Goncharova, E. A. (2009) · Cell Cycle · doi:10.4161/cc.8.3.7555 · Cited by 84

New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex

Lam, H. C., Nijmeh, J., & Henske, E. P. (2016) · The Journal of Pathology · doi:10.1002/path.4827 · Cited by 86

Embryonic Cerebrospinal Fluid Nanovesicles Carry Evolutionarily Conserved Molecules and Promote Neural Stem Cell Amplification

Feliciano, D. M., Zhang, S., Nasrallah, C. M., Lisgo, S., & Bordey, A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0088810 · Cited by 85

mTOR dysregulation and tuberous sclerosis-related epilepsy

Curatolo, P., Moavero, R., van Scheppingen, J., & Aronica, E. (2018) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2018.1428562 · Cited by 89

Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex

Tsai, P., & Sahin, M. (2011) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32834451c4 · Cited by 84

Early Progenitor Cell Marker Expression Distinguishes Type II From Type I Focal Cortical Dysplasias

Orlova, K. A., Tsai, V., Baybis, M., Heuer, G. G., Sisodiya, S. M., Thom, M., Strauss, K. A., Aronica, E., Storm, P. B., & Crino, P. B. (2010) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181eac1f5 · Cited by 84

Emerging evidence of a link between the polycystins and the mTOR pathways

Boletta, A. (2009) · PathoGenetics · doi:10.1186/1755-8417-2-6 · Cited by 84

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

Kingswood, J. C., Jóźwiak, S., Белоусова, Е. Д., Frost, M., Kuperman, R. A., Bebin, E. M., Korf, B. R., Flamini, J. R., Kohrman, M. H., Sparagana, S. P., et al. (2014) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfu013 · Cited by 82

Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study

Wu, J. Y., Goyal, M., Peters, J. M., Krueger, D. A., Şahin, M., Northrup, H., Au, K. S., O’Kelley, S. E., Williams, M. E., Pearson, D. A., et al. (2019) · Epilepsia · doi:10.1111/epi.16379 · Cited by 82

Aminoacyl-tRNA synthetases and amino acid signaling

Yu, Y. C., Han, J. M., & Kim, S. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2020.118889 · Cited by 83

Current Understandings of Core Pathways for the Activation of Mammalian Primordial Follicles

Zhao, Y., Feng, H., Zhang, Y., Zhang, J. V., Wang, X., Liu, D., Wang, T., Li, R., Ng, E. H. Y., Yeung, W. S. B., et al. (2021) · Cells · doi:10.3390/cells10061491 · Cited by 83

Focal Cortical Dysplasia

Crino, P. B. (2015) · Seminars in Neurology · doi:10.1055/s-0035-1552617 · Cited by 90

TORC1‐dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice

Abs, E., Goorden, S. M. I., Schreiber, J., Overwater, I. E., Hoogeveen‐Westerveld, M., Bruinsma, C. F., Aganović, E., Borgesius, N. Z., Nellist, M. D., & Elgersma, Y. (2013) · Annals of Neurology · doi:10.1002/ana.23943 · Cited by 83

Cell-Type-Dependent Regulation of mTORC1 by REDD1 and the Tumor Suppressors TSC1/TSC2 and LKB1 in Response to Hypoxia

Wolff, N. C., Vega-Rubín-de-Celis, S., Xie, X., Castrillón, D. H., Kabbani, W., & Brugarolas, J. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.01393-10 · Cited by 86

Electrocorticographic evidence of perituberal cortex epileptogenicity in tuberous sclerosis complex

Ma, T. S., Elliott, R. E., Ruppe, V., Devinsky, O., Kuzniecky, R., Weiner, H. L., & Carlson, C. (2012) · Journal of Neurosurgery Pediatrics · doi:10.3171/2012.8.peds1285 · Cited by 82

Neuropathology of epilepsy

Aronica, E., & Mühlebner, A. (2017) · Handbook of clinical neurology · doi:10.1016/b978-0-12-802395-2.00015-8 · Cited by 82

FOXO3a Regulates Glycolysis via Transcriptional Control of Tumor Suppressor TSC1

Khatri, S., Yepiskoposyan, H., Gallo, C. A., Tandon, P., & Plas, D. R. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.121871 · Cited by 81

Modulation of astrocyte glutamate transporters decreases seizures in a mouse model of Tuberous Sclerosis Complex

Zeng, L., Bero, A. W., Zhang, B., Holtzman, D. M., & Wong, M. (2010) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.12.020 · Cited by 82

Therapeutic and clinical foundations of cannabidiol therapy for difficult-to-treat seizures in children and adults with refractory epilepsies

Reddy, D. S. (2022) · Experimental Neurology · doi:10.1016/j.expneurol.2022.114237 · Cited by 102

Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis

Franz, D. N. (2011) · Expert Review of Anticancer Therapy · doi:10.1586/era.11.93 · Cited by 78

New inhibitors of the mammalian target of rapamycin signaling pathway for cancer

Albert, S., Serova, M., Dreyer, C., Sablin, M., Faivre, S. J., & Raymond, É. (2010) · Expert Opinion on Investigational Drugs · doi:10.1517/13543784.2010.499121 · Cited by 79

Evaluation of epileptogenic networks in children with tuberous sclerosis complex using EEG‐fMRI

Jacobs, J., Rohr, A., Moeller, F., Boor, R., Kobayashi, E., LeVan, P., Stephani, U., Gotman, J., & Siniatchkin, M. (2008) · Epilepsia · doi:10.1111/j.1528-1167.2007.01486.x · Cited by 79

Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide

Davies, D. M., Saxena, A., & Kingswood, J. C. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0581-9 · Cited by 78

Tuberous Sclerosis Complex

Treadwell, P. A. (2025) · Springer eBooks · doi:10.1007/978-3-031-86177-2_22

Tuberous Sclerosis

Sampson, J. R., & Lewis, J. C. (2003) · Humana Press eBooks · doi:10.1007/978-1-59259-353-8_7 · Cited by 1

Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside

Au, K. S., Williams, A. T., Gambello, M. J., & Northrup, H. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190091101 · Cited by 88

Tuberous sclerosis complex in a child: diagnosis and management

Gunawan, P. I., Harahap, A., & Saharso, D. (2010) · Paediatrica Indonesiana · doi:10.14238/pi50.3.2010.181-6

A De Novo Mutation in TSC2 Gene is Associated with Tuberous Sclerosis Complex (TSC)- A Case Report

Zhan, W., Li, J., Zhao, Y., Zhang, J., Zhang, Y., Mi, Y., & Duan, J. (2020) · RePEc: Research Papers in Economics