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المؤلفون: 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.
المساهمون: R. S. Møller, Y. G. Weber, L. L. Klitten, H. Truck, H. Muhle, W. S. Kunz, H. C. Mefford, A. Franke, M. Kautza, P. Wolf, D. Dennig, S. Schreiber, I. Rückert, H. Wichmann, J. P. Ernst, C. Schurmann, H. J. Grabe, N. Tommerup, U. Stephani, H. Lerche, H. Hjalgrim, I. Helbig, T. Sander, P. Tinuper, F. Bisulli, EPICURE Consortium, Suls, Arvid, Weckhuysen, Sarah, Claes, Godelieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Jordanova, Albena, Møller, R, Weber, Yg, Klitten, Ll, Trucks, H, Muhle, H, Kunz, W, Mefford, Hc, Franke, A, Kautza, M, Wolf, P, Dennig, D, Schreiber, S, Rückert, Im, Wichmann, He, Ernst, Jp, Schurmann, C, Grabe, Hj, Tommerup, N, Stephani, U, Lerche, H, Hjalgrim, H, Helbig, I, Sander, T, Epicure, Consortium, DEL GIUDICE, Ennio, Coppola, Antonietta, YÜCESAN, EMRAH
المصدر: 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)مصطلحات موضوعية: Male, Idiopathic generalized epilepsy, Neuronal, Idiopathic Generalized Epilepsy, 1q21, 1 Microdeletion, Two-hit Hypothesis, Nrxn1, Neuropsychological Tests, Immunoglobulin E, Cell Adhesion Molecules, Neuronal/genetics, Adult, Age of Onset, Anticonvulsant, Exon, 1q21.1 microdeletion, Exons/genetics, Odds Ratio, Nerve Tissue Proteins/genetics, Copy-number variation, Valproic Acid/therapeutic use, Age of Onset, Neural Cell Adhesion Molecules, genetics, DNA Copy Number Variations, Electroencephalography, Epilepsy, Genetics, biology, Triazines, Anticonvulsants/therapeutic use, Electroencephalography, genetics, Family, Female, Fructose, Exons, Middle Aged, Settore MED/39 - Neuropsichiatria Infantile, Pedigree, therapeutic use, Valproic Acid, Neurology, Settore MED/26 - Neurologia, Anticonvulsants, Epilepsy, Generalized, Female, Adult, Case-Control Studies, Cell Adhesion Molecules, Neuronal, DNA Copy Number Variations, Family, Fructose, Gene Deletion, Genotype, Humans, Infant, Microarray Analysis, Nerve Tissue Proteins, Valproic Acid, analogs /&/ derivatives/therapeutic use, Gene Deletion, Genotype, Humans, Infant, Male, Microarray Analysis, Middle Aged, Nerve Tissue Protein, therapeutic use, Case-Control Studies, Cell Adhesion Molecule, drug therapy/genetics/psychology, Exon, genetics, Neuropsychological Tests, Odds Ratio, Pedigree, Triazine, Lamotrigine, NRXN1, Topiramate, Epilepsy, Generalized/drug therapy, medicine, Allele, Biology, Gene, Generalized, Point mutation, Calcium-Binding Proteins, Odds ratio, medicine.disease, Triazines/therapeutic use, Settore MED/03 - Genetica Medica, therapeutic use, biology.protein, Fructose/analogs & derivatives, Human medicine, Neurology (clinical), Two-hit hypothesis
وصف الملف: STAMPA; application/pdf
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المؤلفون: Berkovic, S.F., Corbett, M.A., Schwake, M., Bahlo, M., Dibbens, L.M., Lin, M., Gandolfo, L., Vears, D.F., O'Sullivan, J., Robertson, T., Bayly, M.A., Gardner, A.E., Vlaar, A.M.M., Korenke, C.G., Bloem, B.R., Coo, I.F. de, Verhagen, J.M.A., Lehesjoki, A.E., Saftig, P., Gecz, J.
المصدر: Epilepsia, 52, 94-95
Epilepsia, 52, pp. 94-95مصطلحات موضوعية: Functional Neurogenomics [DCN 2]
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3دورية أكاديمية
المؤلفون: Horvers, M., Anttonen, A.K., Lehesjoki, A.E., Morava, E., Wortmann, S., Vermeer, S., van de Warrenburg, B.P., Willemsen, M.A.
المصدر: European Journal of Paediatric Neurology; Mar2013, Vol. 17 Issue 2, p199-203, 5p
مصطلحات موضوعية: SJOGREN'S syndrome, GENETIC mutation, CLINICAL trials, CEREBELLAR ataxia, COGNITION, CREATINE kinase
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4دورية أكاديمية
المؤلفون: Dibbens, L.M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M.A., Joensuu, T., Vears, D.F., Franceschetti, S., Canafoglia, L., Wallace, R., Bassuk, A.G., Power, D.A., Tassinari, C.A., Andermann, E., Lehesjoki, A.E., Berkovic, S.F.
المصدر: Annals of Neurology; Oct2009, Vol. 66 Issue 4, p532-536, 5p
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5دورية أكاديمية
المؤلفون: Savander, M., Ropponen, A., Avela, K., Weerasekera, N., Cormand, B., Hirvioja, M.-L., Riikonen, S., Ylikorkala, O., Lehesjoki, A.E., Williamson, C., Aittomäki, K.
المصدر: Gut; Jul2003, Vol. 52 Issue 7, p1025-1028, 4p, 2 Diagrams, 2 Charts
مصطلحات موضوعية: CHOLESTASIS, PREGNANCY complications, GENETICS
مصطلحات جغرافية: FINLAND
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6دورية
المؤلفون: Mitchell, W.A., Wheeler, R.B., Sharp, J.D., Bate, S.L., Gardiner, R.M., Ranta, U.S., Lonka, L., Williams, R.E., Lehesjoki, A.E., Mole, S.E.
المصدر: European Journal of Paediatric Neurology; January 2001, Vol. 5 Issue: Supplement 1 p21-27, 7p
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7دورية أكاديمية
المؤلفون: Saarinen, A., Mäyränpää, M.K., Lehesjoki, A.E., Mäkitie, O.
المصدر: In Bone 2007 40(6) Supplement 1:S74-S75
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8دورية أكاديمية
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9دورية أكاديمية
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10دورية أكاديمية
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