Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Velizarova R"'
Autor:
Dormegny L, Velizarova R, Schroder CM, Kilic-Huck U, Comtet H, Dollfus H, Bourgin P, Ruppert E
Publikováno v:
Nature and Science of Sleep, Vol Volume 13, Pp 1913-1919 (2021)
Léa Dormegny,1,2 Reana Velizarova,1 Carmen M Schroder,1,3 Ulker Kilic-Huck,1,3 Henri Comtet,1,3 Hélène Dollfus,4 Patrice Bourgin,1,3 Elisabeth Ruppert1,3 1Centre des Troubles du Sommeil - CIRCSom, Hôpital Civil, University of Strasbourg, Strasbou
Externí odkaz:
https://doaj.org/article/5529b25edba34c98925711b8a30afd12
Publikováno v:
In Neurophysiologie Clinique / Clinical Neurophysiology September 2014 44(3):245-249
Publikováno v:
In Neurophysiologie Clinique / Clinical Neurophysiology 2009 39(3):139-142
Autor:
Møller, R.S., Weber, Y.G., Klitten, L.L., Trucks, H., Muhle, H., Kunz, W.S., Mefford, H.C., Franke, A., Kautza, M., Wolf, P., Dennig, D., Schreiber, S., Rückert, I.M., Wichmann, H.E., Ernst, J.P., Schurmann, C., Grabe, H.J., Tommerup, N., Stephani, U., Lerche, H., Hjalgrim, H., Helbig, I., Sander, T., Zimprich, F., Mörzinger, M., Feucht, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Jordanova, A., Kjelgaard, D.B., Lehesjoki, A.E., Siren, A., Baulac, S., Leguern, E., Von Spiczak, S., Ostertag, P., Leber, M., Leu, C., Toliat, M.R., Nürnberg, P., Hempelmann, A., Rüschendorf, F., Elger, C.E., Kleefuß Lie, A.A., Surges, R., Gaus, V., Janz, D., Schmitz, B., Klein, K.M., Reif, P.S., Oertel, W.H., Hamer, H.M., Rosenow, F., Becker, F., Marini, C., Guerrini, R., Mei, D., Norci, V., Zara, F., Striano, P., Robbiano, A., Pezzella, M., Bianchi, A., Gambardella, A., Tinuper, P., La Neve, A., Capovilla, G., Vigliano, P., Crichiutti, G., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Giallonardo, M.T., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., Koeleman, B.P.C., De Kovel, C., Lindhout, D., De Haan, G.J., Ozbeck, U., Bebek, N., Baykan, B., Ozdemir, O., Ugur, S., Kocasoy Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Yapici, Z., Ozkara, C., Caglayan, H., Yalcin, O., Yalcin, D., Turkdogan, D., Dizdarer, G., Agan, K.
Publikováno v:
Epilepsia
Møller, R S, YG, W, Klitten, L L, H, T, H, M, WS, K, HC, M, A, F, M, K, P, W, D, D, S, S, IM, R, HE, W, JP, E, C, S, HJ, G, N, T, U, S, H, L, Hjalgrim, H, I, H & T, S 2013, ' Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy ', Epilepsia, vol. 54, no. 2, pp. 256-264 . https://doi.org/10.1111/epi.12078
Epilepsia 54, 256-264 (2013)
Møller, R S, YG, W, Klitten, L L, H, T, H, M, WS, K, HC, M, A, F, M, K, P, W, D, D, S, S, IM, R, HE, W, JP, E, C, S, HJ, G, N, T, U, S, H, L, Hjalgrim, H, I, H & T, S 2013, ' Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy ', Epilepsia, vol. 54, no. 2, pp. 256-264 . https://doi.org/10.1111/epi.12078
Epilepsia 54, 256-264 (2013)
Summary Purpose Neurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletion
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Autor:
Møller, R. S., Weber, Y. G., Klitten, L. L., Trucks, H., Muhle, H., Kunz, W. S., Mefford, H. C., Franke, A., Kautza, M., Wolf, P., Dennig, D., Schreiber, S., Rückert, I. -M., Wichmann, H. -E., Ernst, J. P., Schurmann, C., Grabe, H. J., Tommerup, N., Stephani, U., Lerche, H., Hjalgrim, H., Helbig, I., Sander, T., Zimprich, F., Mörzinger, M., Feucht, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Jordanova, A., Kjelgaard, D. B., Lehesjoki, A. -E., Siren, A., Baulac, S., Leguern, E., Von Spiczak, S., Ostertag, P., Leber, M., Leu, C., Toliat, M. R., Nürnberg, P., Hempelmann, A., Rüschendorf, F., Elger, C. E., Kleefuß-Lie, A. A., Surges, R., Gaus, V., Janz, D., Schmitz, B., Klein, K. M., Reif, P. S., Oertel, W. H., Hamer, H. M., Rosenow, F., Becker, F., Marini, C., Guerrini, R., Mei, D., Norci, V., Zara, F., Striano, P., Robbiano, A., Pezzella, M., Bianchi, A., Gambardella, A., Tinuper, P., La Neve, A., Capovilla, G., Vigliano, P., Crichiutti, G., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Giallonardo, M. T., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., Koeleman, B. P. C., De Kovel, C., Lindhout, D., De Haan, G. -J., Ozbeck, U., Bebek, N., Baykan, B., Ozdemir, O., Ugur, S., Kocasoy-Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Yapici, Z., Ozkara, C., Caglayan, H., Yalcin, O., Yalcin, D., Turkdogan, D., Dizdarer, G., Agan, K.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::d69e96eecbd84898c88329182e75b03c
http://hdl.handle.net/11588/722578
http://hdl.handle.net/11588/722578
Autor:
Steffens, M., Leu, C., Ruppert, A., Zara, F., Striano, P., Robbiano, A., Capovilla, G., Tinuper, P., Gambardella, A., Bianchi, A., La neve, A., Crichiutti, G., de kovel, C. G., Trenité, D. K. -N., de haan, G., Lindhout, D., Gaus, V., Schmitz, B., Janz, D., Weber, Y. G., Becker, F., Lerche, H., Steinhoff, B. J., Kleefuß-Lie, A. A., Kunz, W. S., Surges, R., Elger, C. E., Muhle, H., Von spiczak, S., Ostertag, P., Helbig, I., Stephani, U., Møller, R. S., Hjalgrim, H., Dibbens, L. M., Bellows, S., Oliver, K., Mullen, S., Scheffer, I. E., Berkovic, S. F., Everett, K. V., Gardiner, M. R., Marini, Chiara, Guerrini, R., Lehesjoki, A., Siren, A., Guipponi, M., Malafosse, A., Thomas, P., Nabbout, R., Baulac, S., Leguern, E., Guerrero, R., Serratosa, J. M., Reif, P. S., Rosenow, F., Mörzinger, M., Feucht, M., Zimprich, F., Kapser, C., Schankin, C. J., Suls, A., Smets, K., De jonghe, P., Jordanova, A., Caglayan, H., Yapici, Z., Yalcin, D. A., Baykan, B., Bebek, N., Ozbek, U., Gieger, C., Wichmann, H., Balschun, T., Ellinghaus, D., Franke, A., Meesters, C., Becker, T., Wienker, T. F., Hempelmann, A., Schulz, H., Rüschendorf, F., Leber, M., Pauck, S. M., Trucks, H., Toliat, M. R., Nürnberg, P., Avanzini, G., Koeleman, B. P., Sander, T., Weckhuysen, S., Claes, L., Deprez, L., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Lehesjoki, A. -E., von Spiczak, S., Martin Klein, K., Oertel, W. H., Hamer, H. M., Marini, C., Mei, D., Norci, V., Pezzella, M., La Neve, A., Vigliano, P., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Egeo, G., Teresa Giallonardo, M., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., de Haan, G. -J., Giraldez, B. G., Ozbeck, U., Ozdemir, O., Ugur, S., Kocasoy-Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Ozkara, C., Yalcin, O., Turkdogan, D., Dizdarer, G., Agan, K.
Publikováno v:
Hum. Mol. Genet. 21, 5359-5372 (2012)
Human molecular genetics
Human molecular genetics 21(24), 5359-5372 (2012). doi:10.1093/hmg/dds373
Human Molecular Genetics
Steffens, M, Leu, C, Ruppert, A K, Zara, F, Striano, P, Robbiano, A, Capovilla, G, Tinuper, P, Gambardella, A, Bianchi, A, La Neve, A, Crichiutti, G, de Kovel, C G F, Trenite, D K N, de Haan, G J, Lindhout, D, Gaus, V, Schmitz, B, Janz, D, Weber, Y G, Becker, F, Lerche, H, Steinhoff, B J, Kleefuss-Lie, A A, Kunz, W S, Surges, R, Elger, C E, Muhle, H, von Spiczak, S, Ostertag, P, Helbig, I, Stephani, U, Moller, R S, Hjalgrim, H, Dibbens, L M, Bellows, S, Oliver, K, Mullen, S, Scheffer, I E, Berkovic, S F, Everett, K V, Gardiner, M R, Marini, C, Guerrini, R, Lehesjoki, A E, Siren, A K, Guipponi, M, Malafosse, A, Thomas, P, Nabbout, R, Baulac, S, Leguern, E, Guerrero, R, Serratosa, J M, Reif, P S, Rosenow, F, Morzinger, M, Feucht, M, Zimprich, F, Kapser, C, Schankin, C J, Suls, A, Smets, K, De Jonghe, P, Jordanova, A, Caglayan, H, Yapici, Z, Yalcin, D A, Baykan, B, Bebek, N, Ozbek, U, Gieger, C, Wichmann, H E, Balschun, T, Ellinghaus, D, Franke, A, Meesters, C, Becker, T, Wienker, T F, Hempelmann, A, Schulz, H, Ruschendorf, F, Leber, M, Pauck, S M, Trucks, H, Toliat, M R, Nurnberg, P, Avanzini, G, Koeleman, B P C, Sander, T, Consortium, E & Consortium, E 2012, ' Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 ', Human Molecular Genetics, vol. 21, no. 24, pp. 5359-5372 . https://doi.org/10.1093/hmg/dds373
Human molecular genetics
Human molecular genetics 21(24), 5359-5372 (2012). doi:10.1093/hmg/dds373
Human Molecular Genetics
Steffens, M, Leu, C, Ruppert, A K, Zara, F, Striano, P, Robbiano, A, Capovilla, G, Tinuper, P, Gambardella, A, Bianchi, A, La Neve, A, Crichiutti, G, de Kovel, C G F, Trenite, D K N, de Haan, G J, Lindhout, D, Gaus, V, Schmitz, B, Janz, D, Weber, Y G, Becker, F, Lerche, H, Steinhoff, B J, Kleefuss-Lie, A A, Kunz, W S, Surges, R, Elger, C E, Muhle, H, von Spiczak, S, Ostertag, P, Helbig, I, Stephani, U, Moller, R S, Hjalgrim, H, Dibbens, L M, Bellows, S, Oliver, K, Mullen, S, Scheffer, I E, Berkovic, S F, Everett, K V, Gardiner, M R, Marini, C, Guerrini, R, Lehesjoki, A E, Siren, A K, Guipponi, M, Malafosse, A, Thomas, P, Nabbout, R, Baulac, S, Leguern, E, Guerrero, R, Serratosa, J M, Reif, P S, Rosenow, F, Morzinger, M, Feucht, M, Zimprich, F, Kapser, C, Schankin, C J, Suls, A, Smets, K, De Jonghe, P, Jordanova, A, Caglayan, H, Yapici, Z, Yalcin, D A, Baykan, B, Bebek, N, Ozbek, U, Gieger, C, Wichmann, H E, Balschun, T, Ellinghaus, D, Franke, A, Meesters, C, Becker, T, Wienker, T F, Hempelmann, A, Schulz, H, Ruschendorf, F, Leber, M, Pauck, S M, Trucks, H, Toliat, M R, Nurnberg, P, Avanzini, G, Koeleman, B P C, Sander, T, Consortium, E & Consortium, E 2012, ' Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 ', Human Molecular Genetics, vol. 21, no. 24, pp. 5359-5372 . https://doi.org/10.1093/hmg/dds373
Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3\% and account for 20-30\% of all epilepsies. Despite their high heritability of 80\%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d0be9096c311acc412ed337b76d9e6
https://hdl.handle.net/1959.8/125338
https://hdl.handle.net/1959.8/125338
Publikováno v:
Neurology; 4/18/2023Supplement, Vol. 100, pS108-S108, 1p
Publikováno v:
In Neurophysiologie Clinique / Clinical Neurophysiology 2009 39(4):263-265
Publikováno v:
In Revue Neurologique 2009 165(10):839-841