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Page 1
Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations.
Curatolo P, Nabbout R, Lagae L, Aronica E, Ferreira JC, Feucht M, Hertzberg C, Jansen AC, Jansen F, Kotulska K, Moavero R, O'Callaghan F, Papavasiliou A, Tzadok M, Jóźwiak S. Curatolo P, et al. Among authors: jansen ac, jansen f. Eur J Paediatr Neurol. 2018 Sep;22(5):738-748. doi: 10.1016/j.ejpn.2018.05.006. Epub 2018 May 24. Eur J Paediatr Neurol. 2018. PMID: 29880258 Review.
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry.
Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, 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, O'Callaghan F, Qin J, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Kingswood JC. Nabbout R, et al. Among authors: jansen ac. Front Neurol. 2021 Sep 8;12:697467. doi: 10.3389/fneur.2021.697467. eCollection 2021. Front Neurol. 2021. PMID: 34566842 Free PMC article.
Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period.
Korotkov A, Luinenburg MJ, Romagnolo A, Zimmer TS, van Scheppingen J, Bongaarts A, Broekaart DWM, Anink JJ, Mijnsbergen C, Jansen FE, van Hecke W, Spliet WG, van Rijen PC, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Crino PB, Kotulska K, Lagae L, Jansen AC, Kwiatkowski DJ, Jozwiak S, Curatolo P, Mühlebner A, van Vliet EA, Mills JD, Aronica E. Korotkov A, et al. Among authors: jansen ac, jansen fe. J Neurodev Disord. 2022 Jan 15;14(1):8. doi: 10.1186/s11689-022-09416-2. J Neurodev Disord. 2022. PMID: 35030990 Free PMC 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: jansen ac. 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.
TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
Kingswood JC, d'Augères GB, Belousova E, Ferreira JC, Carter T, Castellana R, Cottin V, Curatolo P, Dahlin M, de Vries PJ, Feucht M, Fladrowski C, Gislimberti G, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Benedik MP, Qin J, Marques R, Sander V, Sauter M, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA consortium and TOSCA investigators. Kingswood JC, et al. Among authors: jansen ac. Orphanet J Rare Dis. 2017 Jan 5;12(1):2. doi: 10.1186/s13023-016-0553-5. Orphanet J Rare Dis. 2017. PMID: 28057044 Free PMC article.
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: jansen ac. Nephrol Dial Transplant. 2019 Mar 1;34(3):502-508. doi: 10.1093/ndt/gfy063. Nephrol Dial Transplant. 2019. PMID: 29697822 Free PMC article.
Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience.
Krueger DA, Capal JK, Curatolo P, Devinsky O, Ess K, Tzadok M, Koenig MK, Narayanan V, Ramos F, Jozwiak S, de Vries P, Jansen AC, Wong M, Mowat D, Lawson J, Bruns S, Franz DN; TSCure Research Group. Krueger DA, et al. Among authors: jansen ac. Eur J Paediatr Neurol. 2018 Nov;22(6):1066-1073. doi: 10.1016/j.ejpn.2018.06.007. Epub 2018 Jul 4. Eur J Paediatr Neurol. 2018. PMID: 30005812
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.
Jansen AC, 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, Kingswood JC. Jansen AC, et al. Front Neurol. 2019 Jul 3;10:705. doi: 10.3389/fneur.2019.00705. eCollection 2019. Front Neurol. 2019. PMID: 31333563 Free PMC article.
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: jansen ac, jansen fe. 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.
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
Moavero R, Kotulska K, Lagae L, Benvenuto A, Emberti Gialloreti L, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Van Schooneveld MM, Samueli S, Maulisovà A, Aronica E, Kwiatkowski DJ, Jansen FE, Jozwiak S, Curatolo P; EPISTOP Consortium. Moavero R, et al. Among authors: jansen ac, jansen fe. Ann Clin Transl Neurol. 2020 Aug;7(8):1371-1381. doi: 10.1002/acn3.51128. Epub 2020 Jul 23. Ann Clin Transl Neurol. 2020. PMID: 32705817 Free PMC article. Clinical Trial.
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