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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 |
Ketogenic parenteral nutrition in 17 pediatric patients with epilepsy. |
Dressler A, Haiden N, Trimmel-Schwahofer P, Benninger F, Samueli S, Gröppel G, Spatzierer S, Mühlebner A, Abraham K, Feucht M |
Epilepsia open. 2017 Nov 16. doi: 10.1002/epi4.12084. pii: EPI412084. pmc: PMC5839306 |
PMID: 29588985 |
Everolimus in infants with tuberous sclerosis complex-related West syndrome: First results from a single-center prospective observational study. |
Samueli S, Dressler A, Gröppel G, Scholl T, Feucht M |
Epilepsia. 2018 Aug 10. doi: 10.1111/epi.14529 |
PMID: 30098008 |
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 Ketogenic Diet Including Breast Milk for Treatment of Infants with Severe Childhood Epilepsy: Feasibility, Safety, and Effectiveness. |
Dressler A, Häfele C, Giordano V, Benninger F, Trimmel-Schwahofer P, Gröppel G, Samueli S, Feucht M, Male C, Repa A |
Breastfeeding medicine : the official journal of the Academy of Breastfeeding Medicine. 2019 Nov 26. doi: 10.1089/bfm.2019.0190 |
PMID: 31770024 |
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 |
Effects of the ketogenic diet on platelet counts and global coagulation tests in childhood epilepsy. |
Dressler A, Chiara H, Benninger F, Waldhoer T, Gröppel G, Trimmel-Schwahofer P, Samueli S, Reithofer E, Elisa E, Feucht M, Male C |
Seizure. 2020 May 4. pii: S1059-1311(20)30104-7. doi: 10.1016/j.seizure.2020.03.017 |
PMID: 32512283 |
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 |
Long-term Follow-up of Patients with Congenital Hyperinsulinism in Austria. |
Rami B, Mercimek-Mahmutoglu S, Feucht M, Herle M, Rittinger O, Stoeckler-Ipsiroglu S, Schober E |
Journal of pediatric endocrinology & metabolism : JPEM. 2020 Oct 22. pii: jpem-2008-210606. doi: 10.1515/jpem-2008-210606 |
PMID: 33600688 |
Neurite Outgrowth Inhibitor (NogoA) Is Upregulated in White Matter Lesions of Complex Cortical Malformations. |
Scholl T, Gruber VE, Samueli S, Lehner R, Kasprian G, Czech T, Reinten RJ, Hoogendijk L, Hainfellner JA, Aronica E, Mühlebner A, Feucht M |
Journal of neuropathology and experimental neurology. pii: 6124781. doi: 10.1093/jnen/nlaa159 |
PMID: 33517425 |
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 |
Ketogenic Diet in the Treatment of Super-Refractory Status Epilepticus at a Pediatric Intensive Care Unit: A Single-Center Experience. |
Breu M, Häfele C, Glatter S, Trimmel-Schwahofer P, Golej J, Male C, Feucht M, Dressler A |
Frontiers in neurology. 2021 Jun 3. doi: 10.3389/fneur.2021.669296. pmc: PMC8209375 |
PMID: 34149600 |
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