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Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

Autor: 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, Trollmann, R

Publikováno v: Epilepsia Open

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 Retrosp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0230368dd4d2223442bb9ce86b019b2f
http://hdl.handle.net/2108/212732

Neonatal mild Complex IV deficiency with a fatal outcome is caused by COX15 gene mutations

Autor: Seneca, Sara, Vancampenhout, Kim, Smet, Joél, Van Coster, Rudy, Dom, L., Ullmann, Urielle, Lissens, Willy, Van Dooren, Sonia, Bonduelle, Mary-Louise, De Meirleir, Linda

Isolated complex IV deficiency is a frequent cause of respiratory chain impairment and mitochondrial disease. It has been shown that cytochrome C oxidase dysfunction can be can be consistent with the presence of mitochondrial DNA mutations in genes c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3848::223e45f3631a4f12b4e9427878d9efc4
https://biblio.vub.ac.be/vubir/neonatal-mild-complex-iv-deficiency-with-a-fatal-outcome-is-caused-by-cox15-gene-mutations(c7bfe50a-8ee1-4691-8dbb-93501d5064a9).html

Progressieve myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C in ND6

Autor: Seneca, Sara, Dermaut, Bart, Santens, P., Dom, L., Smets, K., Ceulemans, L., Smet, Joél, De Paepe, Boél, Tousseyn, S., Weckhuyssen, Sarah, Pals, Philippe, Parizel, Paul, De Bleecker, J., Boon, Paul, De Meirleir, Linda, De Jonghe, P., Van Coster, Rudy, Van Paesschen, W., Lissens, Willy, Liebaers, Ingeborg

Mitochondrial disorders of oxidative phosphorylation (OXPHOS disorders) affect ~1/5000 individuals in the general population and present with a surprisingly wide range of multisystemic and neuromuscular phenotypes. The m.14487T>C mutation is a known

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3848::0a7b9724f61c5476aa636b2ce4317c10
https://biblio.vub.ac.be/vubir/progressieve-myoclonic-epilepsy-as-an-adultonset-manifestation-of-leigh-syndrome-due-to-m14487tc-in-nd6(2d4040ef-8998-4cb4-9574-ab6ba3954e95).html

Megalencephalic Leukoencephalopathy with Cysts without MLC1 Defect Two Phenotypes

Autor: van der Knaap, M.S., Lai, V., Kohler, W., Salih, M.A., Fonseca, M.J., Benke, T.A., Wilson, C., Jayakar, P., Aine, M.R., Dom, L., Lynch, B., Kalmanchey, R., Pietsch, P., Errami, A., Scheper, G.C.

Publikováno v: Annals of Neurology, 67(6), 834-837. John Wiley and Sons Inc.
van der Knaap, M S, Lai, V, Kohler, W, Salih, M A, Fonseca, M J, Benke, T A, Wilson, C, Jayakar, P, Aine, M R, Dom, L, Lynch, B, Kalmanchey, R, Pietsch, P, Errami, A & Scheper, G C 2010, ' Megalencephalic Leukoencephalopathy with Cysts without MLC1 Defect Two Phenotypes ', Annals of Neurology, vol. 67, no. 6, pp. 834-837 . https://doi.org/10.1002/ana.21980

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b4e6d86c676e751d7d7e717f7a25b431
https://research.vu.nl/en/publications/b9832012-b976-4d98-9220-06e809fd2487