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Nature Communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 3094 - 16
Journal Article
Brain, ISSN 0006-8950, 09/2017, Volume 140, Issue 9, pp. 2337 - 2354
Journal Article
by Heimer, Gali and Kerätär, Juha M and Riley, Lisa G and Balasubramaniam, Shanti and Eyal, Eran and Pietikäinen, Laura P and Hiltunen, J. Kalervo and Marek-Yagel, Dina and Hamada, Jeffrey and Gregory, Allison and Rogers, Caleb and Hogarth, Penelope and Nance, Martha A and Shalva, Nechama and Veber, Alvit and Tzadok, Michal and Nissenkorn, Andreea and Tonduti, Davide and Renaldo, Florence and Bamshad, Michael J and Leal, Suzanne M and Nickerson, Deborah A and Anderson, Peter and Annable, Marcus and Blue, Elizabeth Marchani and Buckingham, Kati J and Chin, Jennifer and Chong, Jessica X and Cornejo, Rodolfo and Davis, Colleen P and Frazar, Christopher and He, Zongxiao and Jarvik, Gail P and Jimenez, Guillaume and Johanson, Eric and Kolar, Tom and Krauter, Stephanie A and Luksic, Daniel and Marvin, Colby T and McGee, Sean and McGoldrick, Daniel J and Patterson, Karynne and Perez, Marcos and Phillips, Sam W and Pijoan, Jessica and Robertson, Peggy D and Santos-Cortez, Regie and Shankar, Aditi and Slattery, Krystal and Shively, Kathryn M and Siegel, Deborah L and Smith, Joshua D and Tackett, Monica and Wang, Gao and Wegener, Marc and Weiss, Jeffrey M and Wernick, Riana I and Wheeler, Marsha M and Yi, Qian and Kraoua, Ichraf and Panteghini, Celeste and Valletta, Lorella and Garavaglia, Barbara and Cowley, Mark J and Gayevskiy, Velimir and Roscioli, Tony and Silberstein, Jonathon M and Hoffmann, Chen and Raas-Rothschild, Annick and Tiranti, Valeria and Anikster, Yair and Christodoulou, John and Kastaniotis, Alexander J and Ben-Zeev, Bruria and Hayflick, Susan J and U Of Washington Ctr For Mendelian and University of Washington Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1229 - 1244
Journal Article
by Jansen, AC and Belousova, E and Benedik, MP and Carter, T and Cottin, V and Curatolo, P and D'Amato, L and d'Augeres, GB and de Vries, PJ and Ferreira, JC and Feucht, M and Fladrowski, C and Hertzberg, C and Jozwiak, S and Lawson, JA and Macaya, A and Marques, R and Nabbout, R and O'Callaghan, F and Qin, J and Sander, V and Sauter, M and Shah, S and Takahashi, Y and Touraine, R and Youroukos, S and Zonnenberg, B and Kingswood, JC and Shinohara, N and Horie, S and Kubota, M and Tohyama, J and Imai, K and Kaneda, M and Kaneko, H and Uchida, Y and Kirino, T and Endo, S and Inoue, Y and Uruno, K and Serdaroglu, A and Yapici, Z and Anlar, B and Altunbasak, S and Lvova, O and Belyaev, OV and Agranovich, O and Levitina, EV and Maksimova, YV and Karas, A and Jiang, YW and Zou, LP and Xu, KF and Zhang, YS and Luan, GM and Zhang, YQ and Wang, Y and Jin, ML and Ye, DW and Liao, WP and Zhou, LM and Liu, J and Liao, JX and Yan, B and Deng, YC and Jiang, L and Liu, ZS and Huang, SP and Li, H and Kim, K and Chen, PL and Lee, HF and Tsai, JD and Chi, CS and Huang, CC and Riney, K and Yates, D and Kwan, P and Likasitwattanakul, S and Nabangchang, C and Chomtho, LTK and Katanyuwong, K and Sriudomkajorn, S and Wilmshurst, J and Segel, R and Gilboa, T and Tzadok, M and Fattal-Valevski, A and Papathanasopoulos, P and Papavasiliou, AS and Giannakodimos, S and Gatzonis, S and Pavlou, E and Tzoufi, M and Vergeer, AMH and Dhooghe, M and Verhelst, H and Roelens, F and Nassogne, MC and Defresne, P and ... and TOSCA Investigators and TOSCA Consortium
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 08/2019, Volume 10, p. 821
The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal... 
registry | TOSCA | MANAGEMENT | tuberous sclerosis complex | RECOMMENDATIONS | mTOR | SEGA | TUMORS | NEUROSCIENCES | CLINICAL NEUROLOGY | Tuberous sclerosis | Adults | Medical research | Medicine, Experimental | Research | Health aspects | Astrocytoma
Journal Article
by Jansen, AC and Belousova, E and Benedik, MP and Carter, T and Cottin, V and Curatolo, P and Dahlin, M and D'Amato, L and d'Augeres, GB and de Vries, PJ and Ferreira, JC and Feucht, M and Fladrowski, C and Hertzberg, C and Jozwiak, S and Lawson, JA and Macaya, A and Marques, R and Nabbout, R and O'Callaghan, F and Qin, J and Sander, V and Sauter, M and Shah, S and Takahashi, Y and Touraine, R and Youroukos, S and Zonnenberg, B and Kingswood, JC and Shinohara, N and Horie, S and Kubota, M and Tohyama, J and Imai, K and Kaneda, M and Kaneko, H and Uchida, Y and Kirino, T and Endo, S and Inoue, Y and Uruno, K and Serdaroglu, A and Yapici, Z and Anlar, B and Altunbasak, S and Lvova, O and Belyaev, OV and Agranovich, O and Levitina, EV and Maksimova, YV and Karas, A and Jiang, YW and Zou, LP and Xu, KF and Zhang, YS and Luan, GM and Zhang, YQ and Wang, Y and Jin, ML and Ye, DW and Liao, WP and Zhou, LM and Liu, J and Liao, JX and Yan, B and Deng, YC and Jiang, L and Liu, ZS and Huang, SP and Li, H and Kim, K and Chen, PL and Lee, HF and Tsai, JD and Chi, CS and Huang, CC and Riney, K and Yates, D and Kwan, P and Likasitwattanakul, S and Nabangchang, C and Chomtho, LTK and Katanyuwong, K and Sriudomkajorn, S and Wilmshurst, J and Segel, R and Gilboa, T and Tzadok, M and Fattal-Valevski, A and Papathanasopoulos, P and Papavasiliou, AS and Giannakodimos, S and Gatz, S and Pavlou, E and Tzoufi, M and Vergeer, AMH and Dhooghe, M and Verhelst, H and Roelens, F and Nassogne, MC and ... and TOSCA Investigators and TOSCA Consortium
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 07/2019, Volume 10, p. 705
Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered... 
registry | DIAGNOSIS | MANAGEMENT | tuberous sclerosis complex | EVEROLIMUS | SEGA | NEUROSCIENCES | CLINICAL NEUROLOGY | CHILDREN | TOSCA | RECOMMENDATIONS | ANGIOMYOLIPOMA | DISEASE | mTOR | DOUBLE-BLIND | SEVERITY | Medical research | Tuberous sclerosis | Medicine, Experimental | Genetic aspects | Rapamycin | Dosage and administration | Research | Astrocytoma
Journal Article
by Marques, R and Belousoye, E and Benedik, MP and Carter, T and Cottin, V and Curatolo, P and Dahlin, M and D'Amato, L and d'Augeres, GB and de Vries, PJ and Ferreira, JC and Feucht, M and Fladrowski, C and Hertzberg, C and Jozwiak, S and Lawson, JA and Macaya, A and Nabbout, R and O'Callaghan, F and Qin, J and Sander, V and Sauter, M and Shah, S and Takahashi, Y and Touraine, R and Youroukos, S and Zonnenberg, B and Kingswood, JC and Jansen, AC and Shinohara, N and LIorie, S and Kubota, M and Tohyama, J and Imai, K and Kaneda, M and Kaneko, H and Uchida, Y and Kirino, T and Endo, S and Inoue, Y and Uruno, K and Serdaroglu, A and Yapici, Z and Anlar, B and Altunbasak, S and Lvova, O and Belyaev, OV and Agranovich, O and Levitina, EV and Maksimova, YV and Karas, A and Jiang, YW and Zou, LP and Xu, KF and Zhang, YS and Luan, GM and Zhang, YQ and Wang, Y and Jin, ML and Ye, DW and Liao, WP and Zhou, LM and Liu, J and Liao, JX and Yan, B and Deng, YC and Jiang, L and Liu, ZS and Huang, SP and Li, H and Kim, K and Chen, PL and Lee, HF and Tsai, JD and Chi, CS and Huang, CC and Riney, AK and Yates, D and Kwan, P and Likasitwattanakul, S and Nabangchang, C and Chomtho, LTK and Katanyuwong, K and Sriudomkajorn, S and Wilmshurst, J and Segel, R and Gilboa, T and Tzadok, M and Fattal-Valevski, A and Papathanasopoulos, P and Papavasiliou, AS and Giannakodimos, S and Gatzonis, S and Pavlou, E and Tzoufi, M and Vergeer, AMM and Dhooghe, M and Verhelst, H and Roelens, F and Nassogne, MC and ... and TOSCA Investigators and TOSCA Consortium
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 10/2019, Volume 10
Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide... 
registry | DIAGNOSIS | LYMPHANGIOLEIOMYOMATOSIS | TSC | GUIDELINES | resource use | NEUROSCIENCES | CLINICAL NEUROLOGY | rare diseases | TOSCA | management | RECOMMENDATIONS | GIANT-CELL ASTROCYTOMA | BURDEN | HEALTH-CARE UTILIZATION | Tuberous sclerosis | Care and treatment
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 516 - 524
Journal Article