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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: nabbout 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.
Children often present with infantile spasms after herpetic encephalitis.
Aznar Laín G, Dellatolas G, Eisermann M, Boddaert N, Chiron C, Bulteau C, Monteiro JP, An I, Pédespan JM, Cancès C, Peudenier S, Barthez MA, Milh M, Dorfmuller G, Héron B, Nabbout R, Grevent D, Dulac O. Aznar Laín G, et al. Among authors: nabbout r. Epilepsia. 2013 Sep;54(9):1571-6. doi: 10.1111/epi.12258. Epub 2013 Jul 1. Epilepsia. 2013. PMID: 23815601 Free article.
TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.
Kingswood JC, Bruzzi P, Curatolo P, de Vries PJ, Fladrowski C, Hertzberg C, Jansen AC, Jozwiak S, Nabbout R, Sauter M, Touraine R, O'Callaghan F, Zonnenberg B, Crippa S, Comis S, d'Augères GB, Belousova E, Carter T, Cottin V, Dahlin M, Ferreira JC, Macaya A, Benedik MP, Sander V, Youroukos S, Castellana R, Ulker B, Feucht M. Kingswood JC, et al. Among authors: nabbout r. Orphanet J Rare Dis. 2014 Nov 26;9:182. doi: 10.1186/s13023-014-0182-9. Orphanet J Rare Dis. 2014. PMID: 25424195 Free PMC article.
Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.
Gataullina S, Lemaire E, Wendling F, Kaminska A, Watrin F, Riquet A, Ville D, Moutard ML, de Saint Martin A, Napuri S, Pedespan JM, Eisermann M, Bahi-Buisson N, Nabbout R, Chiron C, Dulac O, Huberfeld G. Gataullina S, et al. Among authors: nabbout r. Epilepsia. 2016 Apr;57(4):648-59. doi: 10.1111/epi.13325. Epub 2016 Feb 13. Epilepsia. 2016. PMID: 26873267 Free article.
Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study.
French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, de Vries PJ, Dlugos DJ, Berkowitz N, Voi M, Peyrard S, Pelov D, Franz DN. French JA, et al. Among authors: nabbout r. Lancet. 2016 Oct 29;388(10056):2153-2163. doi: 10.1016/S0140-6736(16)31419-2. Epub 2016 Sep 6. Lancet. 2016. PMID: 27613521 Free article. Clinical Trial.
328 results