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TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K; EPISTOP Consortium members; Kwiatkowski DJ. Ogórek B, et al. Among authors: nabbout r. Genet Med. 2020 Sep;22(9):1489-1497. doi: 10.1038/s41436-020-0823-4. Epub 2020 May 28. Genet Med. 2020. PMID: 32461669 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.
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, Humphries SE, Migone N, Povey S. Ekong R, et al. Among authors: nabbout r. Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12. Hum Mutat. 2016. PMID: 26703369 Free PMC 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.
331 results