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

Rapamycin increases the incidence of neuropsychiatric illness in kidney transplant patients through the suppression of neural stem cells

Kim, Y., Lee, J. S., & Joo, Y. H. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-0838-2 · Cited by 14

Predictors and Long-term Outcome of Resective Epilepsy Surgery in Patients with Tuberous Sclerosis Complex: A Single-centre Retrospective Cohort Study

Huang, Q., Zhou, J., Wang, X., Li, T., Wang, M., Wang, J., Teng, P., Qi, X., Zhu, M., Luan, G., et al. (2021) · Seizure · doi:10.1016/j.seizure.2021.03.022 · Cited by 14

Hormonal Manipulation with Letrozole in the Treatment of Metastatic Malignant pecoma

Le, P., Garg, A., Brandao, G., Abusanad, A. M., & Panasci, L. (2014) · Current Oncology · doi:10.3747/co.21.1849 · Cited by 14

Synaptic Plasticity and Learning in Animal Models of Tuberous Sclerosis Complex

Kirschstein, T. (2012) · Neural Plasticity · doi:10.1155/2012/279834 · Cited by 14

Fetal cardiac rhabdomyoma: A sheep or a wolf?

Gazit, A. Z., Singh, G. K., Shumway, J. B., Johnson, M. C., & Ludomirsky, A. (2007) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767050601158297 · Cited by 14

Family Cancer Syndromes

Rehder, H. (2008) · Wiley eBooks · doi:10.1002/9783527627523.ch3 · Cited by 16

Multi-Criteria Decision Analysis to Value Orphan MedicinesPreprint

Sussex, J., Rollet, P., Garau, M., Schmitt, C. J., Kent, A., & Hutchings, A. (2015) · SSRN Electronic Journal · doi:10.2139/ssrn.2631463 · Cited by 14

Protease activity sensors enable real-time treatment response monitoring in lymphangioleiomyomatosis

Kirkpatrick, J. D., Soleimany, A. P., Dudani, J. S., Liu, H.-J., Lam, H. C., Priolo, C., Henske, E. P., & Bhatia, S. N. (2021) · European Respiratory Journal · doi:10.1183/13993003.00664-2021 · Cited by 13

Echocardiographic Image Segmentation for Diagnosing Fetal Cardiac Rhabdomyoma During Pregnancy Using Deep Learning

Sengan, S., Mehbodniya, A., Bhatia, S., Saranya, S., Alharbi, M., Basheer, S., & Subramaniyaswamy, V. (2022) · IEEE Access · doi:10.1109/access.2022.3215973 · Cited by 14

Laser interstitial thermal therapy compared with open resection for treating subependymal giant cell astrocytoma

Aum, D. J., Reynolds, R. A., McEvoy, S. D., Wong, M. L., Roland, J. L., & Smyth, M. D. (2023) · Journal of Neurosurgery Pediatrics · doi:10.3171/2023.8.peds23370 · Cited by 13

Targeting Rb Mutant Cancers by Inactivating TSC2

Searle, J. S., Li, B., & Du, W. (2010) · Oncotarget · doi:10.18632/oncotarget.130 · Cited by 13

Novel treatments in autism spectrum disorders: From synaptic dysfunction to experimental therapeutics

Canitano, R. (2012) · Behavioural Brain Research · doi:10.1016/j.bbr.2012.11.024 · Cited by 13

The assessment and presentation of Autism Spectrum Disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider ASD population.

Moss, J. F., & Howlin, P. (2009) · University of Birmingham Institutional Research Archive (University of Birmingham) · Cited by 13

Tuberous Sclerosis Health Care Utilization Based on the National Inpatient Sample Database: A Review of 5655 Hospitalizations

Wilson, T. A., Rodgers, S. D., Tanweer, O., Agarwal, P., Lieber, B. A., Agarwal, N., McDowell, M. M., Devinsky, O., Weiner, H. L., & Harter, D. H. (2016) · World Neurosurgery · doi:10.1016/j.wneu.2016.03.043 · Cited by 13

Rare inherited kidney diseases: an evolving field in Nephrology

da Cunha, M. F. M., Sevignani, G., Pavanelli, G. M., Carvalho, M., & Barreto, F. C. (2020) · Brazilian Journal of Nephrology · doi:10.1590/2175-8239-jbn-2018-0217 · Cited by 13

Genodermatoses with malignant potential

Ladd, R. T., Davis, M., & Dyer, J. A. (2020) · Clinics in Dermatology · doi:10.1016/j.clindermatol.2020.03.007 · Cited by 13

Ornithine decarboxylase, the rate-limiting enzyme of polyamine synthesis, modifies brain pathology in a mouse model of tuberous sclerosis complex

Kapfhamer, D., McKenna, J., Yoon, C., Stewart, T. M., Casero, R. A., & Gambello, M. J. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa121 · Cited by 14

mTORC1 silencing during intestinal epithelial Caco-2 cell differentiation is mediated by the activation of the AMPK/TSC2 pathway

Kaur, H., & Moreau, R. F. (2021) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2021.01.070 · Cited by 13

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

Kindi, H. N. A., Ibrahim, A. M., Roshdy, M., Abdelghany, B. S., Yehia, D., Masoud, A. N., Simry, W., Aguib, Y., & Yacoub, M. H. (2021) · Cardiology in the Young · doi:10.1017/s1047951121000172 · Cited by 13

A review of magnetoencephalography use in pediatric epilepsy: an update on best practice

Otsubo, H., Ogawa, H., Pang, E. W., Wong, S. M., Ibrahim, G. M., & Widjaja, E. (2021) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2021.1910024 · Cited by 13

Clinical Trials for Rare Lung Diseases: Lessons from Lymphangioleiomyomatosis

Kinder, B. W., & McCormack, F. X. (2010) · Lymphatic Research and Biology · doi:10.1089/lrb.2009.0027 · Cited by 13

Everolimus improves behavioral deficits in a patient with autism associated with tuberous sclerosis: a case report

Ishii, R., Wataya‐Kaneda, M., Canuet, L., Nonomura, N., Nakai, Y., & Takeda, M. (2015) · Neuropsychiatric Electrophysiology · doi:10.1186/s40810-015-0004-x · Cited by 13

Glucose deprivation in tuberous sclerosis complex-related tumors

Jiang, X., Kenerson, H. L., & Yeung, R. S. W. (2011) · Cell & Bioscience · doi:10.1186/2045-3701-1-34 · Cited by 13

Erk activation as a possible mechanism of transformation of subependymal nodule into subependymal giant cell astrocytoma

Siedlecka, M., Szlufik, S., Grajkowska, W., Roszkowski, M., & Jóźwiak, J. (2015) · Folia Neuropathologica · doi:10.5114/fn.2015.49969 · Cited by 13

A diagnostic and management algorithm for individuals with an isolated skin finding suggestive of tuberous sclerosis complex

Nathan, N. R., Burke, K., Moss, J., & Darling, T. N. (2016) · British Journal of Dermatology · doi:10.1111/bjd.14724 · Cited by 13

Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation

Katz, J. S., Frankel, H., Ma, T., Zagzag, D., Liechty, B., Zeev, B. B., Tzadok, M., Devinsky, O., Weiner, H. L., & Roth, J. (2017) · Child s Nervous System · doi:10.1007/s00381-017-3335-z · Cited by 13

Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation

Hoelz, H., Coppenrath, E., Hoertnagel, K., Roser, T., Tacke, M., Gerstl, L., & Borggraefe, I. (2017) · Clinical EEG and Neuroscience · doi:10.1177/1550059417697841 · Cited by 13

Genetic Syndromes Affecting Kidney Development

Pal, A., & Reidy, K. J. (2017) · Results and problems in cell differentiation · doi:10.1007/978-3-319-51436-9_10 · Cited by 13

Lysosomal regulation of cholesterol homeostasis in tuberous sclerosis complex is mediatedviaNPC1 and LDL-R

Filippakis, H., Alesi, N., Ogórek, B., Nijmeh, J., Khabibullin, D., Gutierrez, C., Valvezan, A. J., Cunningham, J. M., Priolo, C., & Henske, E. P. (2017) · Oncotarget · doi:10.18632/oncotarget.17485 · Cited by 13

Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome

Papadopoulou, A., Dinopoulos, A., Koutsodontis, G., Pons, R. M., Vorgia, P., Koute, V., Vratimos, A., & Zafeiriou, D. (2018) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2018.01.026 · Cited by 13

Recognizing Hereditary Renal Cancers Through the Microscope

Peng, Y., & Chen, Y. (2018) · Surgical pathology clinics · doi:10.1016/j.path.2018.07.010 · Cited by 13

Brain Proteomic Profiling in Intractable Epilepsy Caused by TSC1 Truncating Mutations: A Small Sample Study

Liu, Y., Ma, M., Hu, X., Yan, H., Zhang, Y.-K., Yang, H.-X., Feng, J., Wang, L., Zhang, H., Zhang, B., et al. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.00475 · Cited by 13

Tuberous Sclerosis: A Case Report and Review of the Literature

Dzefi‐Tettey, K., Edzie, E. K. M., Gorleku, P. N., Piersson, A. D., & Cudjoe, O. (2021) · Cureus · doi:10.7759/cureus.12481 · Cited by 13

Therapeutic Targeting of DGKA-Mediated Macropinocytosis Leads to Phospholipid Reprogramming in Tuberous Sclerosis Complex

Kovalenko, A., Sanin, A., Kosmas, K., Zhang, L., Wang, J., Akl, E. W., Giannikou, K., Probst, C. K., Hougard, T. R., Rue, R. W., et al. (2021) · Cancer Research · doi:10.1158/0008-5472.can-20-2218 · Cited by 13

Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations

Nouri, M. N., Zak, M., Jain, P., & Whitney, R. (2021) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2021.09.017 · Cited by 13

Animal models of tumour-associated epilepsy

Kirschstein, T., & Köhling, R. (2015) · Journal of Neuroscience Methods · doi:10.1016/j.jneumeth.2015.06.008 · Cited by 13

Glomerulocystic kidney disease in hypomelanosis of Ito

Vergine, G., Mencarelli, F., Diomedi‐Camassei, F., Caridi, G., Hachem, M. E., Ghiggeri, G. M., & Emma, F. (2008) · Pediatric Nephrology · doi:10.1007/s00467-008-0797-y · Cited by 13

The Correlation between 1H-MR Spectroscopy and Clinical Manifestation with Tuberous Sclerosis Complex

Matsuo, N., Imamura, A., Ito, R., Sugawara, K., Takahashi, Y., & Kondo, N. (2007) · Neuropediatrics · doi:10.1055/s-2007-985368 · Cited by 13

The use of everolimus to target carcinogenic pathways in a patient with renal cell carcinoma and tuberous sclerosis complex: a case report

Kim, H. S., Kim, S. T., Kang, S. H., Sung, D. J., Kim, C. H., Shin, S. W., Kim, Y. H., Cho, W. Y., & Park, K. H. (2014) · Journal of Medical Case Reports · doi:10.1186/1752-1947-8-95 · Cited by 13

Video-EEG Monitoring Methods for Characterizing Rodent Models of Tuberous Sclerosis and Epilepsy

Rensing, N. R., Guo, D., & Wong, M. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-430-8_24 · Cited by 12

The Role of Chemokines in Migration of Metastatic-like Lymphangioleiomyomatosis Cells

Pacheco–Rodriguez, G., & Moss, J. (2010) · Critical Reviews in Immunology · doi:10.1615/critrevimmunol.v30.i4.40 · Cited by 13

Dynamic Analysis of 4E-BP1 Phosphorylation in Neurons with Tsc2 or Depdc5 Knockout

Iffland, P. H., Barnes, A. E., Baybis, M., & Crino, P. (2020) · Experimental Neurology · doi:10.1016/j.expneurol.2020.113432 · Cited by 7

The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort

Robinson, J., Uzun, O., Loh, N. R., Harris, I. R., Woolley, T. E., Harwood, A. J., Gardner, J. F., & Syed, Y. A. (2022) · BMC Medicine · doi:10.1186/s12916-022-02325-0 · Cited by 12

Cenobamate's Efficacy for Seizure Treatment in Tuberous Sclerosis Complex

Aungaroon, G., Cooke, A., Ritter, D. M., Krueger, D. A., Horn, P. S., & Franz, D. N. (2024) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2024.09.023 · Cited by 12

French AFU Cancer Committee Guidelines – Update 2024–2026: Management of kidney cancer

Bigot, P., Boissier, R., Khene, Z., Albiges, L. K., Bernhard, J., Corréas, J.-M., Vergie, S. D., Doumerc, N., Ferragu, M., Ingels, A., et al. (2024) · The French Journal of Urology · doi:10.1016/j.fjurol.2024.102735 · Cited by 13

Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate

Wang, S., Ma, R., Gao, C., Tian, Y.-N., Hu, R., Zhang, H., Li, L., & Li, Y. (2025) · Stem Cell Research & Therapy · doi:10.1186/s13287-025-04170-3 · Cited by 15

Pharmacotherapeutic Management of Pediatric Gliomas

Hummel, T. R., Chow, L. M. L., Fouladi, M., & Franz, D. N. (2012) · Pediatric Drugs · doi:10.1007/s40272-012-0002-4 · Cited by 12

Management of renal cell carcinoma in young patients and patients with hereditary syndromes

Leung, C., Pan, S., & Shuch, B. M. (2016) · Current Opinion in Urology · doi:10.1097/mou.0000000000000322 · Cited by 12

Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex

Pfirmann, P., Aupy, J., Jambon, E., Idier, L., Prezelin‐Reydit, M., Fermis, M., Devillard, R., Grenier, N., Combe, C., & Rigothier, C. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106607 · Cited by 12

Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex

Klinner, J., Krüger, M., Brunet, T., Makowski, C. C., Riedhammer, K. M., Mollweide, A., Wagner, M., & Hoefele, J. (2020) · Gene · doi:10.1016/j.gene.2020.144815 · Cited by 12

Initial Dosage Recommendation for Sirolimus in Children With Tuberous Sclerosis Complex

Wang, D., Chen, X., Xu, H. M., & Li, Z. (2020) · Frontiers in Pharmacology · doi:10.3389/fphar.2020.00890 · Cited by 12

Tratamiento de la linfangioleiomiomatosis con sirolimus

Casanova, Á., Girón, R. M., Acosta, O., Barrón, M., Valenzuela, C., & Ancochea, J. (2011) · Archivos de Bronconeumología · doi:10.1016/j.arbres.2011.01.014 · Cited by 12

The TSC1/2 Complex Controls Drosophila Pigmentation through TORC1-Dependent Regulation of Catecholamine Biosynthesis

Zitserman, D., Gupta, S., Kruger, W. D., Karbowniczek, M., & Roegiers, F. (2012) · PLoS ONE · doi:10.1371/journal.pone.0048720 · Cited by 12

Tuberous sclerosis complex as a model disease for developing new therapeutics for epilepsy

Jeong, A., & Wong, M. (2016) · Expert Review of Neurotherapeutics · doi:10.1586/14737175.2016.1151788 · Cited by 12

Therapeutic Strategies for Hereditary Kidney Cancer

Sidana, A., & Srinivasan, R. (2016) · Current Oncology Reports · doi:10.1007/s11912-016-0537-6 · Cited by 12

Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway—a Questionnaire Study

Cockerell, I., Guenin, M., Heimdal, K., Bjørnvold, M., Selmer, K. K., & Rouvière, O. (2017) · Urology · doi:10.1016/j.urology.2017.02.023 · Cited by 12

Fetal subependymal giant cell astrocytoma: A case report and review of the literature

Karagianni, A., Karydakis, P., Giakoumettis, D., Nikas, I., Sfakianos, G., & Themistocleous, M. S. (2020) · Surgical Neurology International · doi:10.25259/sni_10_2019 · Cited by 12

Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes

Kútna, V., O’Leary, V. B., Newman, E. L., Höschl, C., & Ovsepian, S. V. (2021) · Neurotherapeutics · doi:10.1007/s13311-020-01000-7 · Cited by 13

Attention deficits in tuberous sclerosis complex (TSC): rethinking the pathways to the endstate

de Vries, P. J., & Watson, P. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2007.01030.x · Cited by 12

Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex

Ritter, D. M., Fessler, B. K., Ebrahimi‐Fakhari, D., Wei, J. J., Franz, D. N., Krueger, D. A., Trout, A. T., & Towbin, A. J. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02277-x · Cited by 11

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C., Jansen, F. E., de Wit, M. Y., ten Hoopen, L. W., et al. (2024) · BMC Psychiatry · doi:10.1186/s12888-023-05422-3 · Cited by 12

A case of tuberous sclerosis complex that progressed to end-stage renal disease

Sarraf, M., Masoumi, A., Castro-Silva, F. J., Myers, J. B., Wilson, S., & Schrier, R. W. (2009) · Nature Reviews Nephrology · doi:10.1038/ncpneph1033 · Cited by 11

Spécificités de la sclérose tubéreuse de Bourneville chez l’enfant

Riquet, A., Cuisset, J., Cuvellier, J.-C., Joriot, S., Petit, F., & Vallée, L. (2010) · Archives de Pédiatrie · doi:10.1016/j.arcped.2010.06.019 · Cited by 11

Peroxisome proliferator‐activated receptor gamma (PPARγ) is central to the initiation and propagation of human angiomyolipoma, suggesting its potential as a therapeutic target

Pleniceanu, O., Shukrun, R., Omer, D., Vax, E., Kanter, I., Dziedzic, K., Pode‐Shakked, N., Mark‐Danieli, M., Pri‐Chen, S., Gnatek, Y., et al. (2017) · EMBO Molecular Medicine · doi:10.15252/emmm.201506111 · Cited by 11

ubtor Mutation Causes Motor Hyperactivity by Activating mTOR Signaling in Zebrafish

Wang, T., Zhou, M.-S., Zhang, Q., Zhang, C.-Z., & Peng, G. (2021) · Neuroscience Bulletin · doi:10.1007/s12264-021-00755-z · Cited by 8

Surgery for tuberous sclerosis complex-related epilepsy: Risk factors for an unfavorable seizure outcome

d’Orio, P., Pelliccia, V., Biondi, D., Scarpa, P., Gozzo, F., Revay, M., Cardinale, F., Tassi, L., & Cossu, M. (2022) · Seizure · doi:10.1016/j.seizure.2022.02.013 · Cited by 12

The pathological and molecular genetic landscape of the hereditary renal cancer predisposition syndromes

Al‐Obaidy, K. I., Alruwaii, Z. I., Williamson, S. R., & Liang Cheng, C. (2022) · Histopathology · doi:10.1111/his.14641 · Cited by 11

Monitoring and Managing Patients with Tuberous Sclerosis Complex: Current State of Knowledge

Gomes, I. D. M. E. S., Jesus‐Ribeiro, J., & Palavra, F. (2022) · Journal of Multidisciplinary Healthcare · doi:10.2147/jmdh.s266990 · Cited by 11

Natural history and CT scan follow-up of subependymal giant cell tumors in tuberous sclerosis complex patients

Adriaensen, M. E. A. P. M., Zonnenberg, B. A., & de Jong, P. A. (2013) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2013.08.022 · Cited by 11

Papilledema in Obstructive Hydrocephalus Caused by Giant Cell Astrocytoma of Tuberous Sclerosis

Chong, D. Y., Hirunwiwatkul, P., McKeever, P. E., & Trobe, J. D. (2007) · Journal of Neuro-Ophthalmology · doi:10.1097/wno.0b013e3180335110 · Cited by 11

Everolimus Treatment for an Early Infantile Subependymal Giant Cell Astrocytoma With Tuberous Sclerosis Complex

Fukumura, S., Watanabe, T., Takayama, R., Minagawa, K., & Tsutsumi, H. (2014) · Journal of Child Neurology · doi:10.1177/0883073814544703 · Cited by 11

Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex

Boronat, S., Barber, I., Pargaonkar, V., Chang, J., & Thiele, E. A. (2016) · Pediatric Radiology · doi:10.1007/s00247-016-3549-3 · Cited by 11

Tsc1 haploinsufficiency is sufficient to increase dendritic patterning and Filamin A levels

Zhang, L., Huang, T., & Bordey, A. (2016) · Neuroscience Letters · doi:10.1016/j.neulet.2016.06.037 · Cited by 11

Elevated Expression of TRPC4 in Cortical Lesions of Focal Cortical Dysplasia II and Tuberous Sclerosis Complex

Wang, L., Chen, X., Zhang, C., Liang, C., Wei, Y., Yue, J., Liu, S., & Yang, H. (2017) · Journal of Molecular Neuroscience · doi:10.1007/s12031-017-0923-z · Cited by 11

Renal manifestations of tuberous sclerosis complex: patients’ and parents’ knowledge and routines for renal follow-up – a questionnaire study

Cockerell, I., Guenin, M., Heimdal, K., Bjørnvold, M., Selmer, K. K., & Rouvière, O. (2018) · BMC Nephrology · doi:10.1186/s12882-018-0835-3 · Cited by 11

Burden of renal angiomyolipomas associated with tuberous sclerosis complex: results of a patient and caregiver survey

Rentz, A. M., Skalicky, A. M., Liu, Z., Dunn, D. W., Frost, M., Nakagawa, J. A., Prestifilippo, J., Said, Q., & Wheless, J. W. (2018) · Journal of Patient-Reported Outcomes · doi:10.1186/s41687-018-0055-4 · Cited by 11

Innovations in the Neurosurgical Management of Epilepsy

Hoffman, C. E., Parker, W. E., Rapoport, B. I., Zhao, M., Ma, H., & Schwartz, T. H. (2020) · World Neurosurgery · doi:10.1016/j.wneu.2020.03.031 · Cited by 11

Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex

Meng, Y., Yu, C., Chen, M., Yu, X., Sun, M., Yan, H., Zhao, W., & Yu, S. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-00839-0 · Cited by 12

Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing

Kövesdi, E., Ripszám, R., Pöstyéni, E., Horváth, E., Kelemen, A., Fábos, B., Farkas, V., Hadzsiev, K., Sümegi, K., Magyari, L., et al. (2021) · Genes · doi:10.3390/genes12091401 · Cited by 11

Neurodermatology

Neau, J., Godenèche, G., Mathis, S., & Guillet, G. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-7020-4088-7.00104-8 · Cited by 11

Thyroid nodules on chest CT of patients with tuberous sclerosis complex

Auladell, M. A., Boronat, S., Barber, I., & Thiele, E. A. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37339 · Cited by 11

The effects of everolimus on tuberous sclerosis-associated lesions can be dramatic but may be impermanent

Miller, J. M., Wachsman, A. M., Haker, K. M., Majlessipour, F., Danielpour, M., & Puliyanda, D. P. (2014) · Pediatric Nephrology · doi:10.1007/s00467-014-2949-6 · Cited by 11

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