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Page 1
Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis.
Davies DM, Johnson SR, Tattersfield AE, Kingswood JC, Cox JA, McCartney DL, Doyle T, Elmslie F, Saggar A, de Vries PJ, Sampson JR. Davies DM, et al. Among authors: elmslie f. N Engl J Med. 2008 Jan 10;358(2):200-3. doi: 10.1056/NEJMc072500. N Engl J Med. 2008. PMID: 18184971 No abstract available.
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. 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.
Long-term cognitive outcomes in tuberous sclerosis complex.
Tye C, Mcewen FS, Liang H, Underwood L, Woodhouse E, Barker ED, Sheerin F, Yates JRW, Bolton PF; Tuberous Sclerosis 2000 Study Group. Tye C, et al. Dev Med Child Neurol. 2020 Mar;62(3):322-329. doi: 10.1111/dmcn.14356. Epub 2019 Sep 19. Dev Med Child Neurol. 2020. PMID: 31538337 Free PMC article.
Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care.
Annear NMP, Appleton RE, Bassi Z, Bhatt R, Bolton PF, Crawford P, Crowe A, Tossi M, Elmslie F, Finlay E, Gale DP, Henderson A, Jones EA, Johnson SR, Joss S, Kerecuk L, Lipkin G, Morrison PJ, O'Callaghan FJ, Cadwgan J, Ong ACM, Sampson JR, Shepherd C, Kingswood JC. Annear NMP, et al. Among authors: elmslie f. Front Neurol. 2019 Nov 6;10:1116. doi: 10.3389/fneur.2019.01116. eCollection 2019. Front Neurol. 2019. PMID: 31781016 Free PMC article. No abstract available.
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. 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.
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. 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.
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: elmslie f. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
110 results