241 results on '"Jozwiak, S"'
Search Results
2. Tuberous sclerosis complex-associated neuropsychiatric disorders (TAND): further results from the TOSCA natural history study
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De Vries, P. J., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M., Amato, L. D, Augeres, G. B. D, Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Kingswood, J. C., Lawson, J. A., Macaya, A., Marques, R., Nabbout, R., OʼCallaghan, F., Qin, J., Sander, V., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B., and Jansen, A. C.
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- 2017
3. Quality of life and burden of disease in tuberous sclerosis complex (TSC): findings from TOSCA research project
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Jansen, A. C., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Amato, L. D, Augeres, G. B. D, De Vries, P. J., Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., Marques, R., Nabbout, R., OʼCallaghan, F., Qin, J., Sander, V., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B., and Kingswood, J. C.
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- 2017
4. Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures
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van Scheppingen, J., Iyer, A. M., Prabowo, A. S., Mühlebner, A., Anink, J. J., Scholl, T., Feucht, M., Jansen, F. E., Spliet, W. G., Krsek, P., Zamecnik, J., Buccoliero, A. M., Giordano, F., Genitori, L., Kotulska, K., Jozwiak, S., Jaworski, J., Liszewska, E., van Vliet, E. A., and Aronica, E.
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- 2016
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5. Procedural and Declarative Aspects of Optimum Structural Design
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Borkowski, A., Jozwiak, S., Fleischmann, N., Gladwell, G. M. L., editor, Grierson, Donald E., editor, Franchi, Alberto, editor, and Riva, Paolo, editor
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- 1991
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6. Everolimus for Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex: Final Long-Term Results from Approximately 4 Years of Treatment in EXIST-1: PL2-2.
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Franz, D N, Belousova, E, Sparagana, S, Bebin, E M, Frost, M, Kuperman, R, Witt, O, Kohrman, M H, Flamini, J R, Wu, J Y, Curatolo, P, de Vries, P J, Berkowitz, N, Niolat, J, and Jozwiak, S
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- 2015
7. Influence of aluminum oxides on abrasive wear resistance of Fe–50 at.% Al intermetallic sinters
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Jóźwiak, S. and Karczewski, K.
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- 2009
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8. TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex
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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, and TOSCA Consortium and TOSCA Investigators
- Abstract
This non-interventional post-authorisation safety study (PASS) assessed the long-term safety of everolimus in patients with tuberous sclerosis complex (TSC) who participated in the TuberOus SClerosis registry to increase disease Awareness (TOSCA) clinical study and received everolimus for the licensed indications in the European Union. The rate of adverse events (AEs), AEs that led to dose adjustments or treatment discontinuation, AEs of potential clinical interest, treatment-related AEs (TRAEs), serious AEs (SAEs), and deaths were documented. One hundred seventy-nine patients were included in the first 5 years of observation; 118 of 179 patients had an AE of any grade, with the most common AEs being stomatitis (7.8%) and headache (7.3%). AEs caused dose adjustments in 56 patients (31.3%) and treatment discontinuation in nine patients (5%). AEs appeared to be more frequent and severe in children. On Tanner staging, all patients displayed signs of age-appropriate sexual maturation. Twenty-two of 106 female (20.8%) patients had menstrual cycle disorders. The most frequent TRAEs were stomatitis (6.7%) and aphthous mouth ulcer (5.6%). SAEs were reported in 54 patients (30.2%); the most frequent SAE was pneumonia (>3% patients; grade 2, 1.1%, and grade 3, 2.8%). Three deaths were reported, all in patients who had discontinued everolimus for more than 28 days, and none were thought to be related to everolimus according to the treating physicians. The PASS sub-study reflects the safety and tolerability of everolimus in the management of TSC in real-world routine clinical practice.
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- 2021
9. MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis
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Korotkov, A, Sim, N S, Luinenburg, M J, Anink, J J, van Scheppingen, J, Zimmer, T S, Bongaarts, A, Broekaart, D W M, Mijnsbergen, C, Jansen, F E, Van Hecke, W, Spliet, W G M, van Rijen, P C, Feucht, M, Hainfellner, J A, Krsek, P, Zamecnik, J, Crino, P B, Kotulska, K, Lagae, L, Jansen, Anna C, Kwiatkowski, D J, Jozwiak, S, Curatolo, P, Mühlebner, A, Lee, J H, Mills, J D, van Vliet, E A, Aronica, E, Korotkov, A, Sim, N S, Luinenburg, M J, Anink, J J, van Scheppingen, J, Zimmer, T S, Bongaarts, A, Broekaart, D W M, Mijnsbergen, C, Jansen, F E, Van Hecke, W, Spliet, W G M, van Rijen, P C, Feucht, M, Hainfellner, J A, Krsek, P, Zamecnik, J, Crino, P B, Kotulska, K, Lagae, L, Jansen, Anna C, Kwiatkowski, D J, Jozwiak, S, Curatolo, P, Mühlebner, A, Lee, J H, Mills, J D, van Vliet, E A, and Aronica, E
- Abstract
AIMS: Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling pathway. Neurodevelopmental disorders, frequently present in TSC, are linked to cortical tubers in the brain. We previously reported microRNA-34a (miR-34a) among the most up-regulated miRs in tubers. Here, we characterized miR-34a expression in tubers with the focus on the early brain development and assessed the regulation of mTORC1 pathway and corticogenesis by miR-34a.METHODS: We analysed the expression of miR-34a in resected cortical tubers (n = 37) compared to autopsy-derived control tissue (n = 27). The effect of miR-34a overexpression on corticogenesis was assessed in mice at E18. The regulation of the mTORC1 pathway and the expression of the bioinformatically predicted target genes were assessed in primary astrocyte cultures from 3 patients with TSC and in SH-SY5Y cells following miR-34a transfection.RESULTS: The peak of miR-34a overexpression in tubers was observed during infancy, concomitant with the presence of pathological markers, particularly in giant cells and dysmorphic neurons. MiR-34a was also strongly expressed in fetal TSC cortex. Overexpression of miR-34a in mouse embryos decreased the percentage of cells migrated to the cortical plate. The transfection of miR-34a mimic in TSC astrocytes negatively regulated mTORC1 and decreased the expression of the target genes RAS related (RRAS) and NOTCH1.CONCLUSIONS: MiR-34a is most highly overexpressed in tubers during fetal and early postnatal brain development. MiR-34a can negatively regulate mTORC1, however, it may also contribute to abnormal corticogenesis in TSC.
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- 2021
10. MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis
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Pathologie, Neurologen, Brain, Pathologie Pathologen staf, Cancer, Neurochirurgen, Unit Opleiding MDL, PMC Medisch specialisten, Korotkov, A, Sim, N S, Luinenburg, M J, Anink, J J, van Scheppingen, J, Zimmer, T S, Bongaarts, A, Broekaart, D W M, Mijnsbergen, C, Jansen, F E, Van Hecke, W, Spliet, W G M, van Rijen, P C, Feucht, M, Hainfellner, J A, Krsek, P, Zamecnik, J, Crino, P B, Kotulska, K, Lagae, L, Jansen, A C, Kwiatkowski, D J, Jozwiak, S, Curatolo, P, Mühlebner, A, Lee, J H, Mills, J D, van Vliet, E A, Aronica, E, Pathologie, Neurologen, Brain, Pathologie Pathologen staf, Cancer, Neurochirurgen, Unit Opleiding MDL, PMC Medisch specialisten, Korotkov, A, Sim, N S, Luinenburg, M J, Anink, J J, van Scheppingen, J, Zimmer, T S, Bongaarts, A, Broekaart, D W M, Mijnsbergen, C, Jansen, F E, Van Hecke, W, Spliet, W G M, van Rijen, P C, Feucht, M, Hainfellner, J A, Krsek, P, Zamecnik, J, Crino, P B, Kotulska, K, Lagae, L, Jansen, A C, Kwiatkowski, D J, Jozwiak, S, Curatolo, P, Mühlebner, A, Lee, J H, Mills, J D, van Vliet, E A, and Aronica, E
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- 2021
11. Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype
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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, and TOSCA Investigators
- Abstract
Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TAND in (a) children vs. adults, (b) males vs. females, and (c) TSC1 vs. TSC2 mutations, after stratification for levels of IA, in a large, international cohort. Methods: Individuals of any age with a documented visit for TSC in the 12 months prior to enrolment were included. Frequency and percentages of baseline TAND manifestations were presented by categories of IA (no intellectual disability [ID, intelligence quotient (IQ)>70]; mild ID [IQ 50-70]; moderate-to-profound ID [IQ
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- 2020
12. Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas
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Kingswood, J.C. Belousova, E. Benedik, M.P. Carter, T. Cottin, V. Curatolo, P. Dahlin, M. D'Amato, L. Beaure d'Augères, G. de Vries, P.J. Ferreira, J.C. Feucht, M. Fladrowski, C. Hertzberg, C. Jozwiak, S. Lawson, J.A. 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.C. Sauter, M. TOSCA Consortium TOSCA Investigators
- Abstract
Renal angiomyolipomas are one of the most common renal manifestations in patients with tuberous sclerosis complex (TSC), with potentially life-threatening complications and a poor prognosis. Despite the considerable progress in understanding TSC-associated renal angiomyolipomas, there are no large scale real-world data. The aim of our present study was to describe in detail the prevalence and outcome of renal angiomyolipomas in patients with TSC, enrolled into the TuberOus SClerosis registry to increase disease Awareness (TOSCA) from 170 sites across 31 countries worldwide. We also sought to evaluate the relationship of TSC-associated renal angiomyolipomas with age, gender and genotype. The potential risk factors for renal angiomyolipoma-related bleeding and chronic kidney disease (CKD) were studied in patients who participated in the TOSCA renal angiomyolipoma substudy. Of the 2,211 eligible patients, 1,062 (48%) reported a history of renal angiomyolipomas. The median age of TSC diagnosis for the all subjects (n = 2,211) was 1 year. The median age of diagnosis of renal angiomyolipoma in the 1,062 patients was 13 years. Renal angiomyolipomas were significantly more prevalent in female patients (p < 0.0001). Rates of angiomyolipomas >3 cm (p = 0.0119), growing lesions (p = 0.0439), and interventions for angiomyolipomas (p = 0.0058) were also higher in females than males. Pre-emptive intervention for renal angiomyolipomas with embolisation, surgery, or mammalian target of rapamycin (mTOR) inhibitor may have abolished the gender difference in impaired renal function, hypertension, and other complications. The rate of interventions for angiomyolipomas was less common in children than in adults, but interventions were reported in all age groups. In the substudy of 76 patients the complication rate was too low to be useful in predicting risk for more severe CKD. In addition, in this substudy no patient had a renal hemorrhage after commencing on an mTOR inhibitor. Our findings confirmed that renal angiomyolipomas in subjects with TSC1 mutations develop on average at the later age, are relatively smaller in size and less likely to be growing; however, by age 40 years, no difference was observed in the percentage of patients with TSC1 and TSC2 mutations needing intervention. The peak of appearance of new renal angiomyolipomas was observed in patients aged between 18 and 40 years, but, given that angiomyolipomas can occur later, lifelong surveillance is necessary. We found that pre-emptive intervention was dramatically successful in altering the outcome compared to historical controls; with high pre-emptive intervention rates but low rates of bleeding and other complications. This validates the policy of surveillance and pre-emptive intervention recommended by clinical guidelines. © Copyright © 2020 Kingswood, Belousova, Benedik, Carter, Cottin, Curatolo, Dahlin, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Marques, Nabbout, O'Callaghan, Qin, Sander, Shah, Takahashi, Touraine, Youroukos, Zonnenberg, Jansen and Sauter.
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- 2020
13. Everolimus in the treatment of subependymal giant cell astrocytomas (SEGAs) associated with tuberous sclerosis complex (TSC): the EXIST-1 trial: D2–P4
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JOZWIAK, S, BELOUSOVA, E, SPARAGANA, S, BEBIN, M, FROST, M, SHAH, G, CAUWEL, H, and FRANZ, D
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- 2012
14. New therapeutic possibilities in epilepsy in the first year of life caused by congenital and perinatal cytomegalovirus infection: A2–P6
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DUNIN-WASOWICZ, D, KASPRZYK-OBARA, J, DOMANSKA-PAKIELA, D, TOMASZEK, K, and JOZWIAK, S
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- 2012
15. Spio-labeling and MR imaging of neurally committed cord blood cells transplanted to lateral ventricles of child with brain ischemia: PO10201
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Janowski, M, Jurkiewicz, E, Kmiec, T, Kropiwnicki, T, Habich, A, Kotulska, K, Jelonek, E, Sarnowska, A, Litwin, M, Boruczkowski, D, Lukomska, B, Walecki, J, Roszkowski, M, Jozwiak, S, and Domanska-Janik, K
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- 2010
16. Intermetallic alloys with ceramic particles and technological concept for high loaded materials
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Formanek, B., Jóźwiak, S., Szczucka-Lasota, B., Dolata-Grosz, A., and Bojar, Z.
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- 2005
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17. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study
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Jansen, A.C. Belousova, E. Benedik, M.P. Carter, T. Cottin, V. Curatolo, P. D'Amato, L. D'Augères, G.B. De Vries, P.J. Ferreira, J.C. Feucht, M. Fladrowski, C. Hertzberg, C. Jozwiak, S. Lawson, J.A. 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, J.C. Fladrowsk, C. Shinohara, N. Horie, S. Kubota, M. Tohyama, J. Imai, K. Kaneda, M. Kaneko, H. Uchida, Y. Kirino, T. Endo, S. Inoue, Y. Uruno, K. Serdaroglu, A. Yapici, Z. Anlar, B. Altunbasak, S. Lvova, O. Belyaev, O.V. Agranovich, O. Levitina, E.V. Maksimova, Y.V. Karas, A. Jiang, Y. Zou, L. Xu, K. Zhang, Y. Luan, G. Zhang, Y. Wang, Y. Jin, M. Ye, D. Liao, W. Zhou, L. Liu, J. Liao, J. Yan, B. Deng, Y. Jiang, L. Liu, Z. Huang, S. Li, H. Kim, K. Chen, P.-L. Lee, H.-F. Tsai, J.-D. Chi, C.-S. Huang, C.-C. Riney, K. Yates, D. Kwan, P. Likasitwattanakul, S. Nabangchang, C. Krisnachai Chomtho, L.T. Katanyuwong, K. Sriudomkajorn, S. Wilmshurst, J. Segel, R. Gilboa, T. Tzadok, M. Fattal-Valevski, A. Papathanasopoulos, P. Papavasiliou, A.S. Giannakodimos, S. Gatzonis, S. Pavlou, E. Tzoufi, M. Vergeer, A.M.H. Dhooghe, M. Verhelst, H. Roelens, F. Nassogne, M.C. Defresne, P. De Waele, L. Leroy, P. Demonceau, N. Legros, B. Van Bogaert, P. Ceulemans, B. Dom, L. Castelnau, P. De Saint Martin, A. Riquet, A. Milh, M. Cances, C. Pedespan, J.-M. Ville, D. Roubertie, A. Auvin, S. Berquin, P. Richelme, C. Allaire, C. Gueden, S. The Tich, S.N. Godet, B. Ruiz Falco Rojas, M.L. Planas, J.C. Bermejo, A.M. Dura, P.S. Aparicio, S.R. Martinez Gonzalez, M.J. Pison, J.L. Blanco Barca, M.O. Laso, E.L. Luengo, O.A. Aguirre Rodriguez, F.J. Dieguez, I.M. Salas, A.C. Carrera, I.M. Salcedo, E.M. Yoldi Petri, M.E. Candela, R.C. Da Conceicao Carrilho, I. Vieira, J.P. Da Silva Oliveira Monteiro, J.P. Santos De Oliveira Ferreira Leao, M.J. Marceano Ribeiro Luis, C.S. Mendonca, C.P. Endziniene, M. Strautmanis, J. Talvik, I. Canevini, M.P. Gambardella, A. Pruna, D. Buono, S. Fontana, E. Dalla Bernardina, B. Burloiu, C. Bacos Cosma, I.S. Vintan, M.A. Popescu, L. Zitterbart, K. Payerova, J. Bratsky, L. Zilinska, Z. Gruber-Sedlmayr, U. Baumann, M. Haberlandt, E. Rostasy, K. Pataraia, E. Elmslie, F. Johnston, C.A. Crawford, P. Uldall, P. Dahlin, M. Uvebrant, P. Rask, O. Bjoernvold, M. Brodtkorb, E. Sloerdahl, A. Solhoff, R. Gilje Jaatun, M.S. Mandera, M. Radzikowska, E.J. Wysocki, M. Fischereder, M. Kurlemann, G. Wilken, B. Wiemer-Kruel, A. Budde, K. Marquard, K. Knuf, M. Hahn, A. Hartmann, H. Merkenschlager, A. Trollmann, R. on behalf of TOSCA Consortium TOSCA Investigators
- Abstract
The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. © 2019 Jansen, Belousova, Benedik, Carter, Cottin, Curatolo, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Marques, Nabbout, O'Callaghan, Qin, Sander, Sauter, Shah, Takahashi, Touraine, Youroukos, Zonnenberg and Kingswood.
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- 2019
18. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
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Nabbout, R, Belousova, E, Benedik, Mp, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, Damato, L, D'Augeres, 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, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Valeryevich Belyaev, O, Agranovich, O, Vladislavovna Levitina, E, Vladimirovna Maksimova, Y, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P, Lee, H, Tsai, J, Chi, C, Huang, C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Thampratankul Krisnachai Chomtho, L, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Syrigou Papavasiliou, A, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Dhooghe, M, Verhelst, H, Roelens, F, Cecile Nassogne, M, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, De Saint Martin, A, Riquet, A, Milh, M, Cances, C, Pedespan, J, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Nguyen The Tich, S, Godet, B, Rojas, Mlrf, Planas, Jc, Bermejo, Am, Dura, Ps, Aparicio, Sr, Gonzalez, Mjm, Pison, Jl, Blanco Barca, Mo, Laso, El, Luengo, Oa, Rodriguez, Fja, Dieguez, Im, Salas, Ac, Carrera, Im, Salcedo, Em, Petri, Mey, Candela, Rc, Carrilho, Idc, Vieira, Jp, Monteiro, Jpdso, Leao, Mjsdof, Luis, Csmr, Pires Mendonca, C, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, Mp, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Bernardina, Bd, Burloiu, C, Cosma, Isb, Vintan, Ma, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Ann Johnston, C, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Sloerdahl, A, Solhoff, R, Jaatun, Msg, Mandera, M, Radzikowska, Ej, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, and Trollmann, R
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0301 basic medicine ,medicine.medical_specialty ,Pediatrics ,Neurology ,Disease ,tuberous sclerosis complex ,030105 genetics & heredity ,registry ,03 medical and health sciences ,Tuberous sclerosis ,Epilepsy ,0302 clinical medicine ,Intellectual disability ,medicine ,Seizure control ,TOSCA ,business.industry ,epilepsy ,medicine.disease ,Settore MED/39 - Neuropsichiatria Infantile ,3. Good health ,medicine.anatomical_structure ,Cohort ,Full‐length Original Research ,Neurology (clinical) ,TSC1 ,business ,030217 neurology & neurosurgery - Abstract
Summary Objective To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC). Methods Retrospective and prospective patients’ data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. As for noninterventional registries, the study protocol did not specify any particular clinical instruments, laboratory investigations, or intervention. Evaluations included those required for diagnosis and management following local best practice. Results Epilepsy was reported in 83.6% of patients (1852/2216) at baseline; 38.9% presented with infantile spasms and 67.5% with focal seizures. The mean age at diagnosis of infantile spasms was 0.4 year (median
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- 2019
19. Surgical treatment of intraventricular tumors associated with tuberous sclerosis
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Roszkowski, M., Drabik, K., Barszcz, S., and Jozwiak, S.
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- 1995
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20. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain: Abstracts of Symposia and free communications
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Harms, L., Bock, A., JÄnisch, W., Valdueza, J., Weber, J., Link, I., De Keyser, J., Goossens, A., Wilczak, N., Vedeler, C., Bjorge, L., Uvestad, E., Conti, G., Williams, K., Ginsberg, L., Rafique, S., Rapoport, S. I., Gershfeld, N. L., De La Meilleure, G., Crevits, L., Faiss, J. H., Heye, N., Blanke, J., Sackmann, A., Kastrup, O., Doornbos, R., van der Worp, H. B., Kappelle, L. J., Bar, P. R., Davie, C. A., Barker, G. J., Brenton, D., Miller, D. H., Thompson, A. J., Block, F., Schwarz, M., Delodovici, L., Baruzzi, F., Bonaldi, G., Dario, A., Marra, A., Mercuri, A., Dworzak, F., Cavallari, P., Confalonieri, P., Zuffi, M., Antozzi, C., Cornelio, F., Baldissera, F., Chassande, B., Ameri, A., Eymard, B., Poisson, M., Vérier, A., Brunet, P., Congia, S., Murgia, P. L., Cannas, A., Borghero, G., Uselli, S., Mellino, G., Ferrai, R., Lampis, R., Massa, R., Muzzetto, B., Giannini, F., Rossi, S., Cioni, R., d'Aniello, C., Guarneri, A., Battistini, N., Ceriani, F., Del Santo, A., Poloni, M., Campo, J. F., Iglesias, F., Guitera, M. V., Farinas, C., Pascual, J., Leno, C., Berciano, J., Thorpe, I. W., Kendall, B. E., McDonald, W. I., Moulignier, A., Dromer, F., Baudrimont, M., Dupont, B., Gozlan, J., El Amrani, M., Petit, J. C., Roullet, E., Sterzi, R., Causaran, R., Protti, A., Riva, M., Erminio, F., Arena, O., Villa, F., Maccagnano, E., Miletta, M., Spinelli, F., Ben-Hur, T., Weidenfeldl, J., Rao, N. S., Chari, C. C., Laforet, P., Matheron, S., Adams, D., Chemouilli, Ph., Desi, M., Said, G., Davous, P., Lionnet, F., Pulik, M., Genet, P., Rozenberg, F., Cartier, L. M., Castillo, J. L., Cea, J. G., Villagra, R., de Saint Martin, L., Mahieux, F., Manifacier, M. J., Mattos, K., Queiros, C., Publio, L., Vinhas, V., PeÇanha-Martins, A. C., Melo, A., Liska, U., Zifko, U., Budka, H., Drlicek, M., Grisold, W., Kaufmann, R., Kaiser, R., Czygan, M., Gomes, I., Jones, N., Cunha, S., EmbiruÇu, E. Katiane, Vieira, V., Araujo, I., Alexandra, M., Ferreira, A., Goes, J., Chemouilli, P., Israel-Biet, Masson, H., Lacroix, C., Gasnault, J., Hildebrandt-Müller, B., Oschmann, P., Krack, P., Willems, W. R., Dorndorf, W., Freitas, V., Bittencourt, A., Fernandes, D., Nascimento, M. H., Severo, M., Moraes, D., Muller, M., Hasert, K., Merkelbach, S., Schimrigk, K., van Oosten, B. W., Lai, M., Polman, C. H., Bertelsmann, F. W., Hodgkinson, S., Cabre, P. H., Volpe, L., Smadja, D., Vernant, J. P., Villaroya, H., Violleau, K., Younes-Chennoufi, A. Ben, Baumann, N., Villanueva-Hemandez, P., Ballabriga, J., Basart, E., Arbizu, T. X., Perez-Serra, J., Vinuels, F., Giron, J. M., Castilla, J. M., Redondo, L., Izquierdo, G., Lauer, K., Henneberg, A., Bittmann, N., Link, D., Wollinsky, K. H., Mobner, R., Fassbender, K., Kuhnen, J., Schwartz, A., Hennerici, M., Miller, A., Lider, O., Abramsky, O., Weiner, H. L., Offner, H., Vanderbark, A. A., Paoino, E., Fainardi, E., Addonizio, M. C., Ruppi, P., Tola, M. R., Granieri, E., Carreras, M., Sazdovitch, V., Joutel, A., Verdier-taillefer, M. H., Heinzlef, O., Radder, C., Tournier-Lasserve, E., Brenner, R. E., Munro, P. M. G., Williams, S. C. R., Bell, J. D., Hawkins, C. P., Filippi, M., Campi, A., Dousset, V., Canal, N., Comi, G., Zhu, J., Weber, F., Retska, R., List, J., Zhang, L., Brock, M., Taphoorn, M. J. B., Heimans, J. J., van der Veen, E. A., Karim, A. B. M. F., Sarazin, M., Argentino, N., Delattre, J. Y., Derkinderen, P., Buchwald, B., Schroter, G., Serve, G., Franke, C. H., Conrad, B., Kitchen, N. D., Thomas, D. G. T., Forman, A. D., Ang, Kie- Kian, Price, R., Stephens, C., Salmaggi, A., Nermni, R., Silvani, A., Forno, M. G., Luksch, R., Boiardi, A., Grzelec, H., Fryze, C., Nowacki, P., Zdziarska, B., Sanson, M., Merel, P., Richard, S., Rouleau, G., Thomas, G., Olsen, N. K., Pfeiffer, P., Egund, N., Bentzen, S. M., Johannesen, L., Mondrup, K., Rose, C., Zyluk, B., Wondrusch, E., Berger, O., Fast, N., Jellinger, K., Lindner, K., Urman, A., Thibault, J. L., Duyckaerts, Ch., Strik, H., Muller, B., Richter, E., Krauseneck, P., Steinbrecher, A., Schabet, M., Hess, C., Bamberg, M., Dichgans, J., Counsell, C. E., McLeod, M., Grant, R., Creel, G. B., Claus, D., Sieber, E., Engelhardt, A., Rechlin, T., Thierauf, P., Neubauer, U., Peresson, M., Di Giovacchino, G., Romani, G. L., Di Silverio, F., Danek, A., Kuffner, M., Hoermann, R., Schopohl, J., Laska, M., Heye, B., Zangaladze, A. T., Valls-SoIè, J., Cammarota, A., Alvarez, R., Tolosa, E., Hallett, M., Ulbricht, D., Ganslandt, O., Kober, H., Vieth, J., Grummich, P., Pongratz, H., Brigel, C., Fahlbusch, R., Serra, F. P., Palma, V., Nolfe, G., Buscaino, G. A., Rothstein, T. L., Gibson J. M., Morrison P. M., Collins A. D., Eiselt, M., Wagnur, H., Zwiener, U., Schindler, T., Efendi, H., Ertekin, C., Erfas, M., Larsson, L. E., Sirin, H., AraÇ, N., Toygar, A., Demir, Y., Seddigh, S., Vogt, T. H., Hundemer, H., Visbeck, A., Pastena, L., Faralli, F., Mainardi, G., Gagliardi, R., Linden, D., Berlit, P., Lopez, O. L., Becker, J. T., Jungreis, C., Brenner, R., Rezek, D., Dekesky, S. T., Estol, C., Boller, F., Fernandez, J. M., Mederer, S., Batlle, J., Turon, A., Codina, A., Hitzenberger, P., Vila, N., Valls-SolÇ, J., Chamorro, A., Pouget, J., Schmied, A., Morin, D., Azulay, J. Ph., Vedel, J. P., Montalt, J., Escudero, J., Barona, R., Campos, A., Varli, K., Ertem, E., Uludag, B., Yagiz, A., Privorkin, Z., Steinvil, Y., Kott, E., Combarros, O., Sanchez-Pernaute, R., Orizaola, P., Mokrusch, Th., Kutluaye, E., Selcuki, D., Ertikin, C., Zettl, U., Gold, R., Harvey, G. K., Hartung, H. P., Toyka, K. V., Wokke, J. H. J., Oey, P. L., Ippel, P. F., Jansen, G. H., Franssen, H., Toyooka, K., Fujimura, H., Ueno, S., Yoshikawa, H., Yorifuji, S., Yanagihara, T., Talamon, C., Tzourio, C., Kiefer, R., Jung, S., Toyka, K., Ruolt, I., Tranchant, C., Mohr, M., Warter, J. M., Younger, D. S., Rosoklija, G., Hays, A. P., Kurita, R., Hasegawa, O., Matsumto, M., Komiyama, A., Nara, Y., Oueslati, S., Belal, S., Turki, I., Ben Hamida, C., Hentati, F., Ben Hamida, M., Kwiecinski, H., Krolicki, L., Domzal-Stryga, A., Dellemijn, P. L. I., van Deventer, P., van Moll, B., Drogendijk, T., Vecht, Ch. J., Nemni S., Amadio, Fazio, R., Galardin, G., Delodovici, M. L., Peghi, E., Monticelli, M. L., Sessa, A., Viguera, M. L., Palomar, M., Gamez, J., Cervera, C., Navarro, C., Serena, J., Duran, I., Fernandez, A. L., Comabella, M., Nos, C., Rio, J., Montalban, J., Navarro, X., Verdu, E., Darbra, S., Buti, M., Mrabet, A., Fredj, M., Gouider, R., Tounsi, H., Khalfallah, N., Haddad, A., Dbaiss, T., Ghnassia, R., Rouillet, E., Chedru, F., Porsche, H., Strenge, H., Li, S. W., Young, Y. P., Garcia, A. A., Baron, P., Scarpini, E., Bianchi, R., Conti, A., Livraghi, S., Rees, J. H., Gregson, N. A., Hughes, R. A. C., Sedano, M. J., Calleja, J., Canga, E., Bahou, Y., Biary, N., Al Deeb, S. M., Guern, E. L. E., Gugenheim, M., Tardieu, S., Aisonobe, T. M., Agid, Y., Bouche, P., Brice, A., Rautenstrauss, B., Nelis, E., Grehl, H., Van Broeckhoven, C., Pfeiffer, R. A., Liehr, T., Ganzmann, E., Gehring, C., Neundörfer, B., Geremia, L., Doronzo, R., Sacilotto, G., Sergi, P., Pastorino, G. C., Scarlato, G., Planté-Bordeneuve, V., Mantel, A., Baas, F., Moser, H., Antonini, A., Psylla, M., Günther, I., Vontobell, P., Beer, H. F., Leenders, K. L., Chaudhuri, K. Ray, Parker, J., Pye, I. F., Millac, P. A. H., Abbott, R. J., Sutter, M., Albani, C., de Rijk, M. C., Breteler, M. M. B., Graveland, G. A., van der Mechè, F. G. A., Hofman, A., Keipes, M., Hilger, Ch., Diederich, N., Metz, H., Hentges, F., Pollak, P., Benabid, A. L., Limousin, P., Hoffmann, D., Benazzouz, A., Perret, J., Laihinen, A., Rinne, J. O., Ruottinen, H., Nagren, K., Lehikoinen, P., Oikonen, V., Ruotsalainen, U., Rinne, U. K., Cocozza, S., Pizzuti, A., Cavalcanti, F., Monticelli, A., Pianese, L., Redolfi, E., Paiau, F., Di Donato, S., Pandolfo, M., Palau, F., Monros, E., De Michele, G., Smeyers, P., Lopez-ArLandis, J., Uilchez, J., Filla, A., Genis, D., Matilla, T., Volpini, V., Blanchs, M. I., Davalos, A., Molins, A., Rosell, J., Estivill, X., De Jonghe, P., Smeyers, G., Krols, L., Mercelis, R., Hazan, J., Weissenbach, J., Martin, J. J., Warner, T. A. T., Williams, L., Orb, A. S., Harding, A. E., Giunti, P., Sweeney, M. G., Spadaro, M., Jodice, C., Novelletto, A., Malaspina, P., Frontali, M., Salmon, E., Gregoire, Del Fiore, Comar, Franck, G., Scheltens, P. H., Siegfried, K., Dartigues, E., De Deyn, P., Horn, R., Nelson, I., Hanna, M. G., Morgan-Hughes, J. A., Collinge, J., Palmer, M. S., Campbell, T., Mahal, S., Sidle, K., Humphreys, C., Tavitian, B., Pappata, S., Jobert, A., Crouzel, A. M., DiGiamberardino, L., Steimetz, G., Barbanti, P., Fabbrini, G., Salvatore, M., Buzzi, M. G., Di Piero, V., Petraroli, R., Sbriccoli, A., Pocchiari, M., Macchi, G., Lenzi, G. L., Spiegel, R., Maguire, P., Schmid, W., Ott, A., Bots, M. L., Grobbe, D. E., Hofman, A., Howard, R. S., Russell, S., Losseff, N., Hirsch, N. P., Couderc, R., Bailleul, S., Nargeot, M. C., Touchon, J., Picot, M. C., Rizzo, M., Watson, G., McGehee, D., Dingus, T., Kappos, L., Radü, E. W., Haas, J., Hartard, C. H., Spuler, S., Yousry, T., Voltz, R., Scheller, A., Holler, E., Hohlfeld, R., Scolding, N. J., Sussman, J., Kolar, O. J., Farlow, M. R., Rice, P. H., Zipp, F., Sotgiu, S., Weiss, E. H., Wekerle, H., Chalmers, R., Robertson, N., Compston, D. A. S., Martino, G., Clementi, E., Brambilla, E., Moiola, L., Martinelli, V., Colombo, B., Poggi, A., Rovaris, M., Grimaldi, L. M. E., Roth, M. P., Descoins, P., Ballivet, S., Ruidavets, J. B., Waubant, E., Nogueira, L., Cambon-Thomsen, A., Clanet, M., Leppert, D., Hauser, S., Lugaresi, A., Tartaro, A., D'aurelio, P., Befalo, L. L. O., Thomas, A., Malatesta, G., Gambi, D., Benedikz, J. E. G., Magnusson, H., Poser, C. M., Guomundsson, G., Bates, T. E., Davies, S. E. C., Clark, J. B., Landon, D. N., ùther, J. R., Rautenberg, W., Overgaard, K., Sereghy, T., Pedersen, H., Boysen, G., Diez-Tejedor, E., Carceller, F., Gutierrez, M., Lopez-Pajares, R., Roda, J. M., Chandra, B., Ricart, W., Gonzalez-Huix, F., Molina, A., Rundek, T., Demarin, V., De Reuck, J., Boon, P., Decoq, D., Strijckmans, K., Goethals, P., Lemahieu, I., Nibbio, A., Chabriat, H., Vahedi, K., Nagy, T., Verin, M., Mas, J. L., Julien, J., Ducrocq, X., Iba-Zizen, M. T., Cabanis, E. A., Bousser, M. G., Rolland, Y., Landgraf, F., Bompais, B., Lemaitre, M. H., Edan, G., Vorstrup, S., Knudsen, L., Olsen, K. Skovgaard, Videbaek, C., Schroeder, T., van Gijn, J., Jansen, H. M. L., Pruim, J., Paans, A. M. J., Willemsen, A. T. M., Hew, J. M., vd Vliet, A. M., Haaxma, R., Vaalburg, W., Minderhoud, J. M., Korf, J., Soudain, S. E., Ho, T. W., Mishu, B., Li, C. Y., Nachainkin, I., Gao, C. Y., Cornblath, D. R., Griffin, J. W., Asbury, A. K., Blaser, M. J., McKhann, G. M., Ho, T., Macko, C., Xue, P., Stadlan, E. M., Ramos-Alvarez, M., Valenciano, L., Visser, L. H., van der Meché, F. G. A., van Darn, P. A., Meulstee, J., Schmitz, P. I. M., Jacobs, B., Oomes, P. G., Kleyweg, R. P., Jacobs, B. C., Endtz, H. P., van Doorn, P. A., van der Mech, F. G. A., Van den Berg, L. H., Mollee, I., Logtenberg, T., Thomas, P. K., Plant, G., Baxter, P. J., Luis, R. Santiago, Matsumoto, M., Notermans, N. C., Wokke, J. H. J., Lokhorst, H. M., van der Graaf, Y., Jennekens, F. G. I., Azulay, J. P., Bille-Turg, F., Valentin, P., Farnarier, G. G., Pellissier, J. F., Serratrice, G., Quasthoff, S., Schneider, U., Grafe, P., Hilkens, P. H. E., Moll, J. W. B., van der Burg, M. E. L., Planting, A. S. T., van Putten, W. L. J., van den Bent, M. J., Birklein, F., Spitzer, A., Lang, E., Neundorfer, B., Diehl, R. R., Lücke, D., Smith, G. D. P., Mathias, C. J., Serra, J., Campera, M., Ochoa, J. L., Ray Chaudhuri, K., Pavitt, D., Alam, M., Handwerker, H. O., Bleasdale-Barr, K., Smith, G., Murray, N. M. F., Hawkins, P., Pepys, M., Gellera, C., DiDonato, S., Taroni, F., Uncini, A., Di Muzio, A., Servidei, S., Silvestri, G., Lodi, R., Iotti, S., Barbiroli, B., Morrissey, S. P., Borruat, F. X., Francis, D., Mosely, I., Hansen, H. C., Helmke, K., Kunze, K., Sadzot, B., Maquet, P., Lemaire, Plenevaux, Damhaut, Sommer, C., Myers, R. R., Berta, E., Mantegazza, R., Argov, Z., Shapira, Y., Wirguin, I., Beuuer, J., Franke, C., Roberts, M., Willison, H., Vincent, A., Newsom-Davis, J., Morrison, K. E., Damels, R., Francis, M., Campbell, L., Davies, K. E., Kohler, W., Bucka, C., Hertel, G., Kanovsky, P., Auer, D., Ackermann, H., Klose, U., Naegele, Th., Bien, S., Voigt, K., Fink, G. R., Stephan, K. M., Wise, R. J. S., Mullatti, N., Hewer, L., Frackowiak, R. S. J., Weiller, C. S., Rijnites, M., Jueptner, M., Bauermann, T., Krams, M., Diener, H. C., van Walderveen, M. A. A., Barkhof, F., Hommes, O. R., Valk, J., Willmer, J. P., Guzman, D. A., Passingham, R. E., Silbersweig, D., Ceballos-Baumann, A., Frith, C. D., Frackowiak, R., Lucas, C. H., Goullard, L., Marchau, M. J., Godefroy, O., Rondepierre, P. H., Chamas, E., Mounier-Vehier, F., Leys, D., Renato, J., Verdugo, M. S. C., Campero, M., Jose, L., Ochoa, D. S. C., Vivancos, F., Tejedor, E. Diez, Martinez, N., Roda, J., Frank, A., Barreiro, P., Satoh, Y., Nagata, K., Maeda, T., Hirata, Y., YalÇinerner, B., Ozkara, C., Ozer, F., Ozer, S., Hanoglu, L., Zunker, P., Pozo, J. L., Oberwittler, C., Schick, A., Buschmann, H. -Ch., Ringelstein, E. Bernd, Lara, M., Anzola, G. P., Magoni, M., Volta, G. Dalla, Tarasov, A., Feigin, V., Beaudry, M. G., Carrier, S., Chicoutimi, Henriques, I. L., Bogoussslavsky, J., van Melle, G., Mathieu, J., Perusse, L., Allard, P., Prevost, C., Cantin, L., Bouchard, J. M., De Braekeleer, M., Agbo, C., Neau, J. P., Tantot, A. M., Dary-Auriol, M., Ingrand, P., Gil, R., Baltadjiev, D., Zekin, D., Sabey, K., Gennaula, C. P., Pope, B. A., Caparros-Lefebvre, D., Girard-Buttaz, I., Pruvo, J. P., Petit, H., Hipola, D., Martin, M., Giménez-Roldan, S., Ivanez, V., Japaridze, G., Carrasco, J. L., Picomell, I., Herranz, J. L., Macias, J. A., Nieto, M., Noya, M., Oller, L., Kiteva-Trencevska, G., Delgado, M. R., Liu, H., Luengo, A., Parra, J., Colas, J., Fernandez, M. J., Manzanares, R., Kornhuber, M. E., Malashkhia, V., Orkodashili, G., Martinez, M., Bonaventura, I., Porta, G., Martinez, I., Fernandez, A., Aguilar, M., Masnou, P., Drouet, A., Dreyfus, M., Cartron, J., Morel-Kopp, M. C., Tchernia, G., Kaplan, C., Lammers, M. W., Hekster, Y. A., Keyser, A., Meinardi, H., Renier, W. O., Boon, P. A. J. M., Have, M. D., Kint, B., Cruz, P., Cadilha, A., Almeida, R., Goncalves, M., Pimenta, M., Ramos, L. M. P., Polder, T. W., Broere, C. A., Polman, L., Rother, I., Rother, M., Schlaug, G., Arnold, S., Holthausen, H., Wunderlich, G., Ebner, A., Luders, H., Witte, O. W., Seitz, R. J., Serra, L. L., Gallicchio, B., Rotondi, F., Wieshmann, U., Meierkord, H., Sabev, K., Di Carlo, V., Gueguen, B., Derouesné, Ch., Ancri, D., Bourdel, M. C., Guillou, S., Aliaga, R., Chornet, M. A., Rodrigo, A., Pascual, A. Pascual -Leone, Catala, M. D., Pascual-Leone, A., Benbadis, S. R., Dinner, D. S., Chelune, G. J., Lüders, H. O., Piedmonte, M. R., Blanco, T., Lopez, M. P., Romero, B., Deltoro, A., Pascual, A., Pascual, Leone, Bolgert, F., Josse, M. O., Tassan, P., Touze, E., Laplane, D., Godenberg, F., Brizioli, E., Del Gobbo, M., Pelliccioni, G., Scarpino, O., Durak, H., Damlacik, G., Tunca, Z., Fidaner, H., Yurekli, Y., Yemez, B., Kaygisiz, A., Anllo, E. A., Esperet, E., Giovagnoli, A. R., Casazza, M., Spreafico, R., Avanzini, G., Mascheroni, S., Vecchio, I., Tornali, C., Antonuzzo, A., Grasso, A. A., Bella, R., Pennisi, G., Raffaele, R., Broeckx, J., Schildermans, F., Hospers, W., Deberdt, W., Carney, J. M., Aksenova, M., Chen, M. S., Juncadella, M., Busquets, N., De la Fuente, I., Rodriguez, A., Rubio, F., Soler, R., Khati, C., Pillon, B., Deweer, B., Malapani, C., Malichard, N., Dubois, B., Rancurel, G., Lopez, D. L., Jungreia, G., DeKosky, S. T., Boiler, F., Weiller, C., Rijntjes, M., Mueller, S. P., Maguire, E. A., Burke, E. T., Staunton, H., Phillips, J., Rousseaux, M., Pena, J., Bertran, I., Santacruz, P., Lopez, R., Catafau, A., Lomena, F., Blesa, R., Rampello, L., Nicoletti, A., Cabaret, M., Lesoin, F., Steinling, M., Tournev, I., Maier-Hauff, K., Schroeder, M., Wolf, A., Cochin, J. P., Noel, I., Augustin, P., Auzou, P., Hannequin, D., Maria, V., Lopez-Bresnahan, Danielle, D. M., Antin-Ozerkis B. A., Bartels, E., Rodiek, S. O., Flugel, K. A., Campos, D. M., Salas-Puig, J., Del Rio, J. Sanhez, Vidal, J. A., Lahoz, C. H., Eraksoy, M., Barlas, O., Barlas, M., Bayindir, C., Ozcan, H., Birbamer, G., Gerstenbrand, F., Felber, S., Luz, G., Aichner, F., Seidel, G., Kaps, M., Hutzelmann, A., Gerriets, T., Kruggel, F., Martin, P. J., Gaunt, M. E., Abbot, R. J., Naylor, A. R., Meary, E., Dilouya, A., Meder, J. F., De Recondo, J., Lebtahi, R., Neff, K. W., Meairs, S., Viola, S., Matta, E., Aquilone, L., Rise, I. R., Authier, F. J., Kondo, H., Ghnassia, R. T., Degos, J. D., Gherardi, R. K., Bardoni A., Ciafaloni E., Comi G. P., Bresolin N., Robotti M., Moggio M., Rigoletto C., Roses A., Scarlato G., Castelli, E., Turconi, A., Bresolin, N., Perani, D., Felisari, G., Chariot, P., de Pinieux, G., Astier, A., Jacotot, B., Gherardi, R., Fischer-Gagnepain, V., Louboutin, J. P., Crespo, F., Florea-Strat, A., Fromont, G., Sabourin, J. -C., Gonano, E. -F., Moroni, I., Prelle, A., Iannaccone, S., Quattrini, A., deRino, F., Sessa, M., Golzi, V., Smirne, S., Nemni, R., Turpin, J. C., Lucotte, G., Jacobs, S. C. J. M., Willems, P. W. A., Bootsma, A. L., Lasa, A., Calaf, M., Baiget, M., Gallano, B., Fichter-Gagnepain, V., Mazzucchelli, F., D'Angelo, M. G., Velicogna, M., Bet, L., Comi, G. P., Bordoni, A., Gonano, E. F., Bazzi, P., Rapuzzi, S., Moggio, M., Fagiolari, G., Ciscato, P., Messina, A., Battistel, A., Ryniewicz, B., Sangla, I., Desnuelle, C., Paquis, V., Cozzone, P. J., Bendahan, D., Sturenburg, H. 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- 1994
- Full Text
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21. Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.
- Author
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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, 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, and Kingswood, JC
- Abstract
The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2.
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- 2019
22. Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis
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Roberts, P S, Dabora, S, Thiele, E A, Franz, D N, Jozwiak, S, and Kwiatkowski, D J
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- 2004
23. Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination
- Author
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DABORA, S L, NIETO, A A, FRANZ, D, JOZWIAK, S, VAN DEN OUWELAND, A, and KWIATKOWSKI, D J
- Published
- 2000
24. Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience
- Author
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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, and TSCure Research Group
- Subjects
Sirolimus ,Tuberous sclerosis complex ,mTOR ,Infant ,Everolimus ,Safety - Abstract
OBJECTIVE: To evaluate the safety of mTOR inhibitors (sirolimus or everolimus) in infants and very young children with tuberous sclerosis complex (TSC) under two years of age. METHODS: Study design was retrospective to capture medical record data from 52 international TSC Centres who initiated treatment with sirolimus or everolimus in TSC children before the age of two years. Data collection included demographic and clinical information including reason(s) for initiating treatment with mTOR inhibitors, treatment duration, dosing, and corresponding serum trough levels, response to treatment, and adverse events (AE). RESULTS: 19 of 52 (37%) TSC Centres reported treatment of at least one child with TSC under the age of two years with everolimus or sirolimus. Treatment-related data were provided for 45 patients meeting inclusion criteria. Everolimus was utilised 87% of the time, compared to 24% for sirolimus (5 subjects, 11%, were treated separately with both). Refractory epilepsy (45%) was the most common primary reason for initiating treatment and treatment was initiated on average at 11.6 ± 7.6 months of age. At least one AE, suspected or definitely treatment-related, occurred in 35 of 45 (78%) treated subjects. Most AEs were mild (Grade 1) or moderate (Grade 2) in severity and most commonly related to infections. Severe AE (Grade 3) was reported in 7 subjects (20%) and no life-threatening AE (Grade 4) or death/disability (Grade 5) was reported. Treatment was discontinued due to an AE in 9 of 45 (20%). CONCLUSIONS: Everolimus, and to a lesser extent sirolimus, are increasingly being used to treat TSC infants and very young children for multiple TSC-associated clinical indications. While AEs were common, most were not severe and did not prevent continued treatment in the majority of this younger population.
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- 2018
25. Nickel- and iron-based intermetallics deposited using KrF laser
- Author
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Mróz, W, Prokopiuk, A, Mularczyk-Oliwa, M, Jelinek, M, Major, B, Przetakiewicz, W, Bojar, Z, Jóźwiak, S, Zasada, D, and Kasuya, K
- Published
- 2002
- Full Text
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26. Procedural and Declarative Aspects of Optimum Structural Design
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Borkowski, A., primary, Jozwiak, S., additional, and Fleischmann, N., additional
- Published
- 1991
- Full Text
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27. Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene
- Author
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Roberts, P.S, Jozwiak, S, Kwiatkowski, D.J, and Dabora, S.L
- Published
- 2001
- Full Text
- View/download PDF
28. TuberOus SClerosis registry to increase disease Awareness (TOSCA) - Baseline data on 2093 patients
- Author
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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, 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, and Jansen, AC
- Abstract
© 2017 The Author(s). Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. Methods: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included. The registry includes a "core" section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. "Subsections" of the registry recorded additional data related to specific features of TSC. Results: Baseline "core" data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13 years (range, 0-71) and at diagnosis of TSC was 1 year (range, 0-69). The occurrence rates of major manifestations of TSC included - cortical tubers (82.2%), subependymal nodules (78.2%), subependymal giant cell astrocytomas (24.4%), renal angiomyolipomas (47.2%), lymphangioleiomyomatosis (6.9%), cardiac rhabdomyomas (34.3%), facial angiofibromas (57.3%), forehead plaque (14.1%), ≥ 3 hypomelanotic macules (66.8%), and shagreen patches (27.4%). Epilepsy was reported in 1748 (83.5%) patients, of which 1372 were diagnosed at ≤ 2 years (78%). Intellectual disability was identified in 451 (54.9%) patients of those assessed. TSC-associated neuropsychiatric disorders (TAND) were diagnosed late, and not evaluated in 30-50% of patients. Conclusion: TOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awarenes
- Published
- 2017
29. Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations
- Author
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Bongaarts, A. (Anika), Giannikou, K. (Krinio), Reinten, R.J. (Roy J.), Anink, J.J. (Jasper), Mills, J.D. (James D.), Jansen, F.H. (Flip), Spliet, W.G.M. (Wim), den Dunnen, W.F.A. (Willfred F.A.), Coras, R. (Roland), Blümcke, I. (Ingmar), Paulus, W. (Werner), Scholl, T. (Theresa), Feucht, M. (Martha), Kotulska, K. (Katarzyna), Jozwiak, S., Buccoliero, A.M. (Anna Maria), Caporalini, C. (Chiara), Giordano, F. (Flavio), Genitori, L. (Lorenzo), Soylemezoglu, F. (Figen), Pimentel, J., Nellist, M.D. (Mark), Schouten-van Meeteren, A.Y.N. (Antoinette), Nag, A. (Anwesha), Mühlebner, A. (Angelika), Kwiatkowski, D. (David), Aronica, E.M.A. (Eleonora), Bongaarts, A. (Anika), Giannikou, K. (Krinio), Reinten, R.J. (Roy J.), Anink, J.J. (Jasper), Mills, J.D. (James D.), Jansen, F.H. (Flip), Spliet, W.G.M. (Wim), den Dunnen, W.F.A. (Willfred F.A.), Coras, R. (Roland), Blümcke, I. (Ingmar), Paulus, W. (Werner), Scholl, T. (Theresa), Feucht, M. (Martha), Kotulska, K. (Katarzyna), Jozwiak, S., Buccoliero, A.M. (Anna Maria), Caporalini, C. (Chiara), Giordano, F. (Flavio), Genitori, L. (Lorenzo), Soylemezoglu, F. (Figen), Pimentel, J., Nellist, M.D. (Mark), Schouten-van Meeteren, A.Y.N. (Antoinette), Nag, A. (Anwesha), Mühlebner, A. (Angelika), Kwiatkowski, D. (David), and Aronica, E.M.A. (Eleonora)
- Abstract
Subependymal giant cell astrocytomas (SEGAs) are rare, low-grade glioneuronal brain tumors that occur almost exclusively in patients with tuberous sclerosis complex (TSC). Though histologically benign, SEGAs can lead to serious neurological complications, including hydrocephalus, intractable seizures and death. Previous studies in a limited number of SEGAs have provided evidence for a biallelic two-hit inactivation of either TSC1 or TSC2, resulting in constitutive activation of the mechanistic target of rapamycin complex 1 pathway. The activating BRAF V600E mutation is a common genetic alteration in low grade gliomas and glioneuronal tumors, and has been reported in SEGAs as well. In the present study, we assessed the prevalence of the BRAF V600E mutation in a large cohort of TSC related SEGAs (n=58 patients including 56 with clinical TSC) and found no evidence of either BRAF V600E or other mutations in BRAF. To confirm that these SEGAs fit the classic model of two hit TSC1 or TSC2 inactivation, we also performed massively parallel sequencing of these loci. Nineteen (19) of 34 (56%) samples had mutations in TSC2, 10 (29%) had mutations in TSC1, while 5 (15%) had no mutation identified in TSC1/TSC2. The majority of these samples had loss of heterozygosity in the same gene in which the mutation was identified. These results significantly extend previous studies, and in agreement with the Knudson two hit mechanism indicate that biallelic alterations in TSC2 and less commonly, TSC1 are consistently seen in SEGAs.
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- 2017
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- View/download PDF
30. Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations
- Author
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Bongaarts, A, Giannikou, K, Reinten, RJ, Anink, JJ, Mills, JD, Jansen, FE, Spliet, WGM, den Dunnen, WFA, Coras, R, Blumcke, I, Paulus, W, Scholl, T, Feucht, M, Kotulska, K, Jozwiak, S, Buccoliero, AM, Caporalini, C, Giordano, F, Genitori, L, Soylemezoglu, F, Pimentel, J, Nellist, Mark, Schouten-van Meeteren, AYN, Nag, A, Muhlebner, A, Kwiatkowski, DJ, Aronica, E, Bongaarts, A, Giannikou, K, Reinten, RJ, Anink, JJ, Mills, JD, Jansen, FE, Spliet, WGM, den Dunnen, WFA, Coras, R, Blumcke, I, Paulus, W, Scholl, T, Feucht, M, Kotulska, K, Jozwiak, S, Buccoliero, AM, Caporalini, C, Giordano, F, Genitori, L, Soylemezoglu, F, Pimentel, J, Nellist, Mark, Schouten-van Meeteren, AYN, Nag, A, Muhlebner, A, Kwiatkowski, DJ, and Aronica, E
- Published
- 2017
31. Optimization of Structures with Random Parameters
- Author
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Jóźwiak, S. F. and Adey, R. A., editor
- Published
- 1985
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32. Application of Artificial Intelligence in Structural Optimization
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Jóźwiak, S. F., Sriram, D., editor, and Adey, R., editor
- Published
- 1986
- Full Text
- View/download PDF
33. Efficacy and tolerability of eslicarbazepine acetate in children with epilepsy: Results from a phase II study
- Author
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Jozwiak, S., primary, Veggiotti, P., additional, Rocha, F., additional, Moreira, J., additional, and Soares-da-Silva, P., additional
- Published
- 2017
- Full Text
- View/download PDF
34. Effect of eslicarbazepine acetate on neurocognitive functions in children with epilepsy
- Author
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Veggiotti, P., primary, Jozwiak, S., additional, Rocha, F., additional, Moreira, J., additional, and Soares-da-Silva, P., additional
- Published
- 2017
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- View/download PDF
35. Prospective serial neuropsychological study in infants with Tuberous Sclerosis Complex (TSC): First analysis from the EPISTOP Project
- Author
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Benvenuto, A., primary, Moavero, R., additional, Graziola, F., additional, Siracusano, M., additional, Emberti Gialloreti, L., additional, Aronica, E., additional, Jansen, A., additional, Jansen, F.E., additional, Jozwiak, S., additional, Kotulska-Jozwiak, K., additional, Kwiatkowski, D., additional, Lagae, L., additional, and Curatolo, P., additional
- Published
- 2017
- Full Text
- View/download PDF
36. Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures
- Author
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van Scheppingen, J, Iyer, A M, Prabowo, A S, Mühlebner, A, Anink, J J, Scholl, T, Feucht, M, Jansen, F E, Spliet, W G, Krsek, P, Zamecnik, J, Buccoliero, A M, Giordano, F, Genitori, L, Kotulska, K, Jozwiak, S, Jaworski, J, Liszewska, E, van Vliet, E A, Aronica, E, van Scheppingen, J, Iyer, A M, Prabowo, A S, Mühlebner, A, Anink, J J, Scholl, T, Feucht, M, Jansen, F E, Spliet, W G, Krsek, P, Zamecnik, J, Buccoliero, A M, Giordano, F, Genitori, L, Kotulska, K, Jozwiak, S, Jaworski, J, Liszewska, E, van Vliet, E A, and Aronica, E
- Published
- 2016
37. Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures
- Author
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Pathologie, ZL Kinder Ner en Nec Medisch, Brain, ZL Algemene Neurologie Medisch, Pathologie Pathologen staf, Cancer, van Scheppingen, J, Iyer, A M, Prabowo, A S, Mühlebner, A, Anink, J J, Scholl, T, Feucht, M, Jansen, F E, Spliet, W G, Krsek, P, Zamecnik, J, Buccoliero, A M, Giordano, F, Genitori, L, Kotulska, K, Jozwiak, S, Jaworski, J, Liszewska, E, van Vliet, E A, Aronica, E, Pathologie, ZL Kinder Ner en Nec Medisch, Brain, ZL Algemene Neurologie Medisch, Pathologie Pathologen staf, Cancer, van Scheppingen, J, Iyer, A M, Prabowo, A S, Mühlebner, A, Anink, J J, Scholl, T, Feucht, M, Jansen, F E, Spliet, W G, Krsek, P, Zamecnik, J, Buccoliero, A M, Giordano, F, Genitori, L, Kotulska, K, Jozwiak, S, Jaworski, J, Liszewska, E, van Vliet, E A, and Aronica, E
- Published
- 2016
38. PRO31 MEDICAL INNOVATION ASSESSMENT AND ECONOMIC BURDEN OF DISEASES ON THE EXAMPLE OF RARE AND COMMON DISEASES IN POLAND
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Lesniowska, J., Kotulska, K., and Jóźwiak, S.
- Published
- 2019
- Full Text
- View/download PDF
39. SNP identification, linkage disequilibrium (LD), and maternal origin of mutations within the TSC2 gene
- Author
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Roberts, P.S., Chung, J., Jozwiak, S., Dabora, S.L., Nieto, A., Perez, R., Franz, D., Thiele, E., and Kwiatkowski, D.J.
- Subjects
Genetic polymorphisms -- Research ,Nucleotides -- Separation ,Gene mutations -- Research ,Genetic disorders -- Research ,Linkage (Genetics) -- Research ,Biological sciences - Published
- 2001
40. Comprehensive mutation analysis and genotype/phenotype correlations in a cohort of 227 tuberous sclerosis patients
- Author
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Dabora, S.L., Roberts, P.S., Chung, J., Choy, Y.S., Hall, F., Nieto, A., Reeve, M.P., Franz, D., Jozwiak, S., Thiele, E., and Kwiatkowski, D.J.
- Subjects
Genetic research -- Analysis ,Human genetics -- Research ,Tuberous sclerosis -- Genetic aspects ,Biological sciences - Published
- 2000
41. THE TUBEROUS SCLEROSIS COMPLEX (Chapter 5)
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Jozwiak, S, Migone, N, and Ruggieri, Martino
- Published
- 2008
42. Immunohistochemical and microscopic studies on giant cells in tuberous sclerosis
- Author
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Jozwiak, J., Jozwiak, S., and Skopinski, P.
- Subjects
Tuberous sclerosis ,6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología::616.8 - Neurología. Neuropatología. Sistema nervioso [CDU] ,Giant cells - Abstract
Tuberous sclerosis (TSC) is an autosomal dominant disease, caused by mutations in TSC1 or TSC2 genes, encoding hamartin and tuberin, respectively. The clinical picture of the disease is connected with the formation of hamartomas, mainly in the heart, kidneys and the brain. In three types of brain lesions: cortical tubers, subependymal nodules and subependymal giantcell astrocytoma (SEGA) characteristic, so-called “giant cells” are found. In the present review we summarise immunohistochemical findings of two types of studies performed on giant cells aiming at establishing the expression of hamartin and tuberin level and determining the presence of neuron- or astrocyte-specific markers. Moreover, we support our argument with the summary of ultrastructural research done with the purpose of demonstrating structures characteristic of neural and/or glial cells. We conclude that giant cells in cortical tubers and SEGAs are the same undifferentiated cells that, depending on individual determination, can show neural or glial features
- Published
- 2005
43. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex
- Author
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Tyburczy, M. E., primary, Jozwiak, S., additional, Malinowska, I. A., additional, Chekaluk, Y., additional, Pugh, T. J., additional, Wu, C.-L., additional, Nussbaum, R. L., additional, Seepo, S., additional, Dzik, T., additional, Kotulska, K., additional, and Kwiatkowski, D. J., additional
- Published
- 2014
- Full Text
- View/download PDF
44. The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1
- Author
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Kingswood, J. C., primary, Jozwiak, S., additional, Belousova, E. D., additional, Frost, M. D., additional, Kuperman, R. A., additional, Bebin, E. M., additional, Korf, B. R., additional, Flamini, J. R., additional, Kohrman, M. H., additional, Sparagana, S. P., additional, Wu, J. Y., additional, Brechenmacher, T., additional, Stein, K., additional, Berkowitz, N., additional, Bissler, J. J., additional, and Franz, D. N., additional
- Published
- 2014
- Full Text
- View/download PDF
45. O47 – 1530 Outcome of surgical treatment of 64 TSC-associated subependymal giant cell astrocytomas
- Author
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Kotulska, K, primary, Roszkowski, M, additional, Mandera, M, additional, Daszkiewicz, P, additional, Grajkowska, W, additional, Jurkiewicz, E, additional, Borkowska, J, additional, and Jozwiak, S, additional
- Published
- 2013
- Full Text
- View/download PDF
46. PP6.0 – 1815 Everolimus for subependymal giant cell astrocytomas (SEGAs) associated with tuberous sclerosis complex (TSC): results from the EXIST-1 trial by age category
- Author
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Jozwiak, S, primary, Brechenmacher, T, additional, Segal, S, additional, and Franz, DN, additional
- Published
- 2013
- Full Text
- View/download PDF
47. PP8.6 – 2051 Optic neuritis – etiology and results of treatment
- Author
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Dunin-Wasowicz, D, primary, Tomaszek, K, additional, Borkowska, J, additional, Kanigowska, K, additional, Hautz, W, additional, and Jozwiak, S, additional
- Published
- 2013
- Full Text
- View/download PDF
48. P239 – 1816 Safety of everolimus by age category for subependymal giant cell astrocytomas (SEGAs) associated with tuberous sclerosis complex (TSC): results from the EXIST-1 trial
- Author
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Jozwiak, S, primary, Brechenmacher, T, additional, Segal, S, additional, and Franz, DN, additional
- Published
- 2013
- Full Text
- View/download PDF
49. P240 – 1817 Safety of long-term everolimus treatment in toddlers with tuberous sclerosis complex (TSC)-associated subependymal giant cell astrocytomas (SEGAs)
- Author
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Jozwiak, S, primary, Kotulska, K, additional, Chmielewski, D, additional, Borkowska, J, additional, Łojszczyk, B, additional, Kuczyński, D, additional, Kmieć, T, additional, Berkowitz, N, additional, and Dunin-Wasowicz, D, additional
- Published
- 2013
- Full Text
- View/download PDF
50. Genetic diseases and molecular genetics
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Legendre, C., primary, Cohen, D., additional, Delmas, Y., additional, Feldkamp, T., additional, Fouque, D., additional, Furman, R., additional, Gaber, O., additional, Greenbaum, L., additional, Goodship, T., additional, Haller, H., additional, Herthelius, M., additional, Hourmant, M., additional, Licht, C., additional, Moulin, B., additional, Sheerin, N., additional, Trivelli, A., additional, Bedrosian, C. L., additional, Loirat, C., additional, Legendre, C., additional, Babu, S., additional, Jungraithmayr, T., additional, Lebranchu, Y., additional, Riedl, M., additional, Gaber, A. O., additional, Bedrosian, C., additional, Muus, P., additional, Douglas, K., additional, Remuzzi, G., additional, Kourouklaris, A., additional, Ioannou, K., additional, Athanasiou, I., additional, Demetriou, K., additional, Panagidou, A., additional, Zavros, M., additional, Rodriguez C, N. Y., additional, Blasco, M., additional, Arcal, C., additional, Quintana, L. F., additional, Rodriguez de Cordoba, S., additional, Campistol, J. M., additional, Bachmann, N., additional, Eisenberger, T., additional, Decker, C., additional, Bolz, H. J., additional, Bergmann, C., additional, Pesce, F., additional, Cox, S. N., additional, Serino, G., additional, De Palma, G., additional, Sallustio, F. P., additional, Schena, F., additional, Falchi, M., additional, Pieri, M., additional, Stefanou, C., additional, Zaravinos, A., additional, Erguler, K., additional, Lapathitis, G., additional, Dweep, H., additional, Sticht, C., additional, Anastasiadou, N., additional, Zouvani, I., additional, Voskarides, K., additional, Gretz, N., additional, Deltas, C. C., additional, Ruiz, A., additional, Bonny, O., additional, Sallustio, F., additional, Curci, C., additional, Cox, S., additional, Kemter, E., additional, Sklenak, S., additional, Aigner, B., additional, Wanke, R., additional, Kitzler, T. M., additional, Moskowitz, J. L., additional, Piret, S. E., additional, Lhotta, K., additional, Tashman, A., additional, Velez, E., additional, Thakker, R. V., additional, Kotanko, P., additional, Leierer, J., additional, Rudnicki, M., additional, Perco, P., additional, Koppelstaetter, C., additional, Mayer, G., additional, Sa, M. J. N., additional, Alves, S., additional, Storey, H., additional, Flinter, F., additional, Willems, P. J., additional, Carvalho, F., additional, Oliveira, J., additional, Arsali, M., additional, Papazachariou, L., additional, Demosthenous, P., additional, Lazarou, A., additional, Hadjigavriel, M., additional, Stavrou, C., additional, Yioukkas, L., additional, Deltas, C., additional, Pierides, A., additional, Kkolou, M., additional, Toka, H. R., additional, Dibartolo, S., additional, Lanske, B., additional, Brown, E. M., additional, Pollak, M. R., additional, Familiari, A., additional, Zavan, B., additional, Sanna Cherchi, S., additional, Fabris, A., additional, Cristofaro, R., additional, Gambaro, G., additional, D'Angelo, A., additional, Anglani, F., additional, Toka, H., additional, Mount, D., additional, Pollak, M., additional, Curhan, G., additional, Sengoge, G., additional, Bajari, T., additional, Kupczok, A., additional, von Haeseler, A., additional, Schuster, M., additional, Pfaller, W., additional, Jennings, P., additional, Weltermann, A., additional, Blake, S., additional, Sunder-Plassmann, G., additional, Kerti, A., additional, Csohany, R., additional, Wagner, L., additional, Javorszky, E., additional, Maka, E., additional, Tulassay, T., additional, Tory, K., additional, Kingswood, J., additional, Nikolskaya, N., additional, Mbundi, J., additional, Jozwiak, S., additional, Belousova, E., additional, Frost, M., additional, Kuperman, R., additional, Bebin, M., additional, Korf, B., additional, Flamini, R., additional, Kohrman, M., additional, Sparagana, S., additional, Wu, J., additional, Brechenmacher, T., additional, Stein, K., additional, Bissler, J., additional, Franz, D., additional, Zonnenberg, B., additional, Cheung, W., additional, Wang, J., additional, Lam, D., additional, Budde, K., additional, Ivanitskiy, L., additional, Sowershaewa, E., additional, Krasnova, T., additional, Samokhodskaya, L., additional, Safarikova, M., additional, Jana, R., additional, Jitka, S., additional, Obeidova, L., additional, Kohoutova, M., additional, Tesar, V., additional, Evrengul, H., additional, Ertan, P., additional, Serdaroglu, E., additional, Yuksel, S., additional, Mir, S., additional, Yang n Ergon, E., additional, Berdeli, A., additional, Zawada, A., additional, Rogacev, K., additional, Rotter, B., additional, Winter, P., additional, Fliser, D., additional, Heine, G., additional, Bataille, S., additional, Moal, V., additional, Berland, Y., additional, Daniel, L., additional, Rosado, C., additional, Bueno, E., additional, Fraile, P., additional, Lucas, C., additional, Garcoa-Cosmes, P., additional, Tabernero, J. M., additional, Gonzalez, R., additional, Garcia-Cosmes, P., additional, Silska-Dittmar, M., additional, Zaorska, K., additional, Malke, A., additional, Musielak, A., additional, Ostalska-Nowicka, D., additional, Zachwieja, J., additional, K d r, V., additional, Uz, E., additional, Yigit, A., additional, Altuntas, A., additional, Yigit, B., additional, Inal, S., additional, Sezer, M., additional, Yilmaz, R., additional, Visciano, B., additional, Porto, C., additional, Acampora, E., additional, Russo, R., additional, Riccio, E., additional, Capuano, I., additional, Parenti, G., additional, Pisani, A., additional, Feriozzi, S., additional, Perrin, A., additional, West, M., additional, Nicholls, K., additional, Torras, J., additional, Cybulla, M., additional, Conti, M., additional, Angioi, A., additional, Floris, M., additional, Melis, P., additional, Asunis, A. M., additional, Piras, D., additional, Pani, A., additional, Warnock, D., additional, Guasch, A., additional, Thomas, C., additional, Wanner, C., additional, Campbell, R., additional, Vujkovac, B., additional, Okur, I., additional, Biberoglu, G., additional, Ezgu, F., additional, Tumer, L., additional, Hasanoglu, A., additional, Bicik, Z., additional, Akin, Y., additional, Mumcuoglu, M., additional, Ecder, T., additional, Paliouras, C., additional, Mattas, G., additional, Papagiannis, N., additional, Ntetskas, G., additional, Lamprianou, F., additional, Karvouniaris, N., additional, and Alivanis, P., additional
- Published
- 2013
- Full Text
- View/download PDF
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