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Page 1
A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
Abdelwahed M, Touraine R, Ben-Rhouma B, Dhieb D, Mars M, Kammoun K, Hachicha J, Triki C, Kamoun H, Keskes-Ammar L, Belguith N. Abdelwahed M, et al. Among authors: touraine r. IUBMB Life. 2019 Dec;71(12):1937-1945. doi: 10.1002/iub.2134. Epub 2019 Jul 18. IUBMB Life. 2019. PMID: 31317616 Free article.
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).
Sauter M, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA investigators. Sauter M, et al. Among authors: touraine r. Orphanet J Rare Dis. 2021 Jul 6;16(1):301. doi: 10.1186/s13023-021-01917-y. Orphanet J Rare Dis. 2021. PMID: 34229737 Free PMC article.
Epileptogenicity in tuberous sclerosis complex: A stereoelectroencephalographic study.
Neal A, Ostrowsky-Coste K, Jung J, Lagarde S, Maillard L, Kahane P, Touraine R, Catenoix H, Montavont A, Isnard J, Arzimanoglou A, Bartolomei F, Guenot M, Rheims S. Neal A, et al. Among authors: touraine r. Epilepsia. 2020 Jan;61(1):81-95. doi: 10.1111/epi.16410. Epub 2019 Dec 20. Epilepsia. 2020. PMID: 31860139
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.
Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D' Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC. Kingswood JC, et al. Among authors: touraine r. Nephrol Dial Transplant. 2019 Mar 1;34(3):502-508. doi: 10.1093/ndt/gfy063. Nephrol Dial Transplant. 2019. PMID: 29697822 Free PMC article.
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project.
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beure d'Augères G, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC; TOSCA Consortium and TOSCA Investigators. de Vries PJ, et al. Among authors: touraine r. J Neurodev Disord. 2020 Sep 1;12(1):24. doi: 10.1186/s11689-020-09327-0. J Neurodev Disord. 2020. PMID: 32873244 Free PMC article.
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.
Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA Consortium and TOSCA Investigators. Nabbout R, et al. Among authors: touraine r. Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar. Epilepsia Open. 2018. PMID: 30868117 Free PMC article.
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.
Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC. Jansen AC, et al. Among authors: touraine r. Front Neurol. 2019 Aug 2;10:821. doi: 10.3389/fneur.2019.00821. eCollection 2019. Front Neurol. 2019. PMID: 31428037 Free PMC article.
620 results