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| Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. |
| Bongaarts A, Giannikou K, Reinten RJ, Anink JJ, Mills JD, Jansen FE, Spliet GMW, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Scholl T, Feucht M, Kotulska K, Jozwiak S, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoğlu F, Pimentel J, Nellist M, Schouten-van Meeteren AYN, Nag A, Mühlebner A, Kwiatkowski DJ, Aronica E |
| Oncotarget. 2017 Sep 8. doi: 10.18632/oncotarget.20764. pii: 20764. pmc: PMC5707039 |
| PMID: 29221145 |
| 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 |
| European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2018 May 24. pii: S1090-3798(17)32057-3. doi: 10.1016/j.ejpn.2018.05.006 |
| PMID: 29880258 |
| MicroRNA519d and microRNA4758 can identify gangliogliomas from dysembryoplastic neuroepithelial tumours and astrocytomas. |
| Bongaarts A, Prabowo AS, Arena A, Anink JJ, Reinten RJ, Jansen FE, Spliet WGM, Thom M, Coras R, Blümcke I, Kotulska K, Jozwiak S, Grajkowska W, Söylemezoğlu F, Pimentel J, Schouten-van Meeteren AYN, Mills JD, Iyer AM, van Vliet EA, Mühlebner A, Aronica E |
| Oncotarget. 2018 Jun 15. doi: 10.18632/oncotarget.25563. pii: 25563. pmc: PMC6021349 |
| PMID: 29963264 |
| 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 |
| Epilepsia open. 2018 Dec 21. doi: 10.1002/epi4.12286. pii: EPI412286. pmc: PMC6398114 |
| PMID: 30868117 |
| 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 |
| Frontiers in neurology. 2019 Aug 2. doi: 10.3389/fneur.2019.00821. pmc: PMC6688052 |
| PMID: 31428037 |
| Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry. |
| Marques 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, 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 |
| Frontiers in neurology. 2019 Oct 25. doi: 10.3389/fneur.2019.01144. pmc: PMC6823684 |
| PMID: 31708865 |
| The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases. |
| Marques 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, Jansen AC, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Nabbout R |
| Frontiers in neurology. 2019 Nov 13. doi: 10.3389/fneur.2019.01182. pmc: PMC6863928 |
| PMID: 31798515 |
| The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas. |
| Bongaarts A, van Scheppingen J, Korotkov A, Mijnsbergen C, Anink JJ, Jansen FE, Spliet WGM, den Dunnen WFA, Gruber VE, Scholl T, Samueli S, Hainfellner JA, Feucht M, Kotulska K, Jozwiak S, Grajkowska W, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Coras R, Blümcke I, Krsek P, Zamecnik J, Meijer L, Scicluna BP, Schouten-van Meeteren AYN, Mühlebner A, Mills JD, Aronica E |
| Brain : a journal of neurology. 2019 Dec 13. pii: 5675542. doi: 10.1093/brain/awz370 |
| PMID: 31834371 |
| Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype. |
| de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure 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 |
| Frontiers in neurology. 2020 Jul 7. doi: 10.3389/fneur.2020.00603. pmc: PMC7358578 |
| PMID: 32733359 |
| Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers. |
| Mühlebner A, van Scheppingen J, de Neef A, Bongaarts A, Zimmer TS, Mills JD, Jansen FE, Spliet WGM, Krsek P, Zamecnik J, Coras R, Blumcke I, Feucht M, Scholl T, Gruber VE, Hainfellner JA, Söylemezoğlu F, Kotulska K, Lagae L, Jansen AC, Kwiatkowski DJ, Jozwiak S, Curatolo P, Aronica E |
| Journal of neuropathology and experimental neurology. pii: 5909353. doi: 10.1093/jnen/nlaa090 |
| PMID: 32954437 |
| Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study. |
| Jansen AC, Vanclooster S, de Vries PJ, Fladrowski C, Beaure d'Augères G, Carter T, Belousova E, Benedik MP, Cottin V, Curatolo P, Dahlin M, D'Amato L, Ferreira JC, Feucht M, 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 |
| Frontiers in neurology. 2020 Aug 28. doi: 10.3389/fneur.2020.00904. pmc: PMC7485558 |
| PMID: 32982929 |
| Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas. |
| Kingswood JC, 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, Nabbout R, O'Callaghan F, Qin J, Sander V, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Sauter M |
| Frontiers in neurology. 2020 Sep 16. doi: 10.3389/fneur.2020.00972. pmc: PMC7526256 |
| PMID: 33041968 |
| Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics. |
| De Ridder J, Lavanga M, Verhelle B, Vervisch J, Lemmens K, Kotulska K, Moavero R, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Domanska-Pakieła D, Kaczorowska-Frontczak M, Hertzberg C, Ferrier CH, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Van Huffel S, Lagae L |
| Frontiers in neurology. 2020 Oct 16. doi: 10.3389/fneur.2020.582891. pmc: PMC7596378 |
| PMID: 33178126 |
| TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex. |
| Kingswood JC, Belousova E, Benedik MP, Budde K, 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 |
| Frontiers in neurology. 2021 Mar 23. doi: 10.3389/fneur.2021.630378. pmc: PMC8021912 |
| PMID: 33833726 |
| 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 |
| Frontiers in neurology. 2021 Sep 8. doi: 10.3389/fneur.2021.697467. pmc: PMC8455825 |
| PMID: 34566842 |
| Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex. |
| Bongaarts A, Mijnsbergen C, Anink JJ, Jansen FE, Spliet WGM, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Gruber VE, Scholl T, Hainfellner JA, Feucht M, Kotulska K, Jozwiak S, Grajkowska W, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoğlu F, Pimentel J, Jones DTW, Scicluna BP, Schouten-van Meeteren AYN, Mühlebner A, Mills JD, Aronica E |
| Cellular and molecular neurobiology. 2021 Oct 28. doi: 10.1007/s10571-021-01157-5. pii: 10.1007/s10571-021-01157-5 |
| PMID: 34709498 |
| 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 |
| Journal of neurodevelopmental disorders. 2022 Jan 15. doi: 10.1186/s11689-022-09416-2. pii: 10.1186/s11689-022-09416-2 |
| PMID: 35030990 |
| Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex. |
| Hulshof HM, Kuijf HJ, Kotulska K, Curatolo P, Weschke B, Riney K, Krsek P, Feucht M, Nabbout R, Lagae L, Jansen A, Otte WM, Lequin MH, Sijko K, Benvenuto A, Hertzberg C, Benova B, Scholl T, De Ridder J, Aronica EMA, Kwiatkowski DJ, Jozwiak S, Jurkiewicz E, Braun K, Jansen FE |
| Neurology. 2022 Jan 31. pii: WNL.0000000000200027. doi: 10.1212/WNL.0000000000200027 |
| PMID: 35101906 |
| miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex. |
| Scheper M, Romagnolo A, Besharat ZM, Iyer AM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Petrak B, Maulisova A, Nabbout R, Jansen AC, Jansen FE, Lagae L, Urbanska M, Ferretti E, Tempes A, Blazejczyk M, Jaworski J, Kwiatkowski DJ, Jozwiak S, Kotulska K, Sadowski K, Borkowska J, Curatolo P, Mills JD, Aronica E, Epistop Consortium Members |
| Biomedicines. 2022 Jul 29. pii: biomedicines10081838. doi: 10.3390/biomedicines10081838 |
| PMID: 36009385 |
| Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. |
| Mills JD, Iyer AM, van Scheppingen J, Bongaarts A, Anink JJ, Janssen B, Zimmer TS, Spliet WG, van Rijen PC, Jansen FE, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Kotulska K, Jozwiak S, Jansen A, Lagae L, Curatolo P, Kwiatkowski DJ, Pasterkamp RJ, Senthilkumar K, von Oerthel L, Hoekman MF, Gorter JA, Crino PB, Mühlebner A, Scicluna BP, Aronica E |
| Scientific reports. 2022 Sep 14. doi: 10.1038/s41598-022-20109-7. pii: 10.1038/s41598-022-20109-7. pmc: PMC9474802 |
| PMID: 36104396 |
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