المؤلفون: Coppola A., Cellini E., Stamberger H., Saarentaus E., Cetica V., Lal D., Djemie T., Bartnik-Glaska M., Ceulemans B., Helen Cross J., Deconinck T., Masi S. D., Dorn T., Guerrini R., Hoffman-Zacharska D., Kooy F., Lagae L., Lench N., Lemke J. R., Lucenteforte E., Madia F., Mefford H. C., Morrogh D., Nuernberg P., Palotie A., Schoonjans A. -S., Striano P., Szczepanik E., Tostevin A., Vermeesch J. R., Van Esch H., Van Paesschen W., Waters J. J., Weckhuysen S., Zara F., Jonghe P. D., Sisodiya S. M., Marini C., Lehesjioki A. -E., Craiu D., Talvik T., Caglayan H., Serratosa J., Sterbova K., Moller R. S., Hjalgrim H., Lerche H., Weber Y., Helbig I., von Spiczak S., Barba C., Bogaerts A., Boni A., Galizia E. C., Chiari S., Di Gacomo G., Ferrari A., Guarducci S., Giglio S., Holmgren P., Leu C., Melani F., Novara F., Pantaleo M., Peeters E., Pisano T., Rosati A., Sander J., Schoeler N., Stankiewicz P., Striano S., Suls A., Traverso M., Vandeweyer G., Van Dijck A., Zuffardi O.

المساهمون: Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.

مصطلحات موضوعية: array CGH, copy number variant, epilepsy gene, SNP array

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30866059; info:eu-repo/semantics/altIdentifier/wos/WOS:000463267500012; volume:60; issue:4; firstpage:689; lastpage:706; numberofpages:18; journal:EPILEPSIA; http://hdl.handle.net/11568/996341Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063785575

الإتاحة: https://doi.org/10.1111/epi.14683Test
http://hdl.handle.net/11568/996341Test

المؤلفون: Galizia, E. C., Myers, C. T., Leu, C., De Kovel, C. G. F., Afrikanova, T., Cordero-Maldonado, M. L., Martins, T. G., Jacmin, M., Drury, S., Chinthapalli, V. K., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A. -K., Moller, R. S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A. -E., Nürnberg, P., Lerche, H., Palotie, A., Coppola, A., Striano, S., Del Gaudio, L., Boustred, C., Schneider, A. L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L. G., Mullen, S. A., Berkovic, S. F., Stephani, U., Helbig, I., Crawford, A. D., Esguerra, C. V., Trenité, D. G. A. K. -N., Koeleman, B. P. C., Mefford, H. C., Scheffer, I. E., Sisodiya, S. M.

المساهمون: Galizia, E. C., Myers, C. T., Leu, C., De Kovel, C. G. F., Afrikanova, T., Cordero-Maldonado, M. L., Martins, T. G., Jacmin, M., Drury, S., Chinthapalli, V. K., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A. -K., Moller, R. S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A. -E., Nürnberg, P., Lerche, H., Palotie, A., Coppola, A., Striano, S., Del Gaudio, L., Boustred, C., Schneider, A. L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L. G., Mullen, S. A., Berkovic, S. F., Stephani, U., Helbig, I., Crawford, A. D., Esguerra, C. V., Trenité, D. G. A. K. -N., Koeleman, B. P. C., Mefford, H. C., Scheffer, I. E., Sisodiya, S. M.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000353834100017; volume:138; issue:5; firstpage:1198; lastpage:1207; numberofpages:10; journal:BRAIN; http://hdl.handle.net/11588/722476Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84929658567; https://www.scopus.com/inward/record.uri?eid=2-s2.0-84929658567&doi=10.1093/brain/awv028&partnerID=40&md5=7582ef892e8a2d284f10d1eec78bb715Test

الإتاحة: https://doi.org/10.1093/brain/awv028Test
http://hdl.handle.net/11588/722476Test

المؤلفون: Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.

المساهمون: Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Denni, Djémié, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thoma, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nichola, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Møller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke, Zuffardi, Orsetta

المصدر: Epilepsia

مصطلحات موضوعية: epilepsy gene, Epilepsy, DNA Copy Number Variations, Genotype, Comorbidity, array CGH, copy number variants, epilepsy genes, SNP array, Phenotype, Neurology, mental disorders, Full‐length Original Research, Humans, copy number variant, Genetic Predisposition to Disease, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7bdb393e6939254f9400f7305e012582Test
http://hdl.handle.net/11567/1021944Test

المؤلفون: Galizia, Elizabeth C, Myers, Candace T, Leu, Costin, de Kovel, Carolien G F, Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G, Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V, Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S, Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L, Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G, Mullen, Saul A, Berkovic, Samuel F, Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D, Esguerra, Zara, Federico, Striano, Pasquale, Camila, V, Kasteleijn-Nolst Trenité, Dorothee G A, Koeleman, Bobby P C, Mefford, Heather C, Scheffer, Ingrid E, Sisodiya, Sanjay M

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Chemical Biology (Crawford Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Galizia, E. C., Myers, C. T., Leu, C., De Kovel, C. G. F., Afrikanova, T., Cordero-Maldonado, M. L., Martins, T. G., Jacmin, M., Drury, S., Chinthapalli, V. K., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A. -K., Moller, R. S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A. -E., Nürnberg, P., Lerche, H., Palotie, A., Coppola, A., Striano, S., Del Gaudio, L., Boustred, C., Schneider, A. L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L. G., Mullen, S. A., Berkovic, S. F., Stephani, U., Helbig, I., Crawford, A. D., Esguerra, C. V., Trenité, D. G. A. K. -N., Koeleman, B. P. C., Mefford, H. C., Scheffer, I. E., Sisodiya, S. M.

المصدر: Brain
Galizia, E C, Myers, C T, Leu, C, de Kovel, C G F, Afrikanova, T, Cordero-Maldonado, M L, Martins, T G, Jacmin, M, Drury, S, Krishna Chinthapalli, V, Muhle, H, Pendziwiat, M, Sander, T, Ruppert, A-K, Møller, R S, Thiele, H, Krause, R, Schubert, J, Lehesjoki, A-E, Nürnberg, P, Lerche, H, Palotie, A, Coppola, A, Striano, S, Gaudio, L D, Boustred, C, Schneider, A L, Lench, N, Jocic-Jakubi, B, Covanis, A, Capovilla, G, Veggiotti, P, Piccioli, M, Parisi, P, Cantonetti, L, Sadleir, L G, Mullen, S A, Berkovic, S F, Stephani, U, Helbig, I, Crawford, A D, Esguerra, C V, Kasteleijn-Nolst Trenité, D G A, Koeleman, B P C, Mefford, H C, Scheffer, I E, Sisodiya, S M & EuroEPINOMICS CoGIE Consortium 2015, ' CHD2 variants are a risk factor for photosensitivity in epilepsy ', Brain, vol. 138, no. 5, pp. 1198-1208 . https://doi.org/10.1093/brain/awv052Test
Scopus-Elsevier
Brain, 138, 1198. Oxford University Press

مصطلحات موضوعية: INTELLECTUAL DISABILITY, Neurology [D14] [Human health sciences], seizure, Epilepsy, Reflex, Research Support, N.I.H., Extramural, eyelid myoclonia with absences, photosensitive, animals, DNA-binding proteins, electroencephalography, epilepsy, reflex, gene knockdown techniques, humans, mutation, photic stimulation, risk factors, zebrafish, genetic predisposition to disease, Risk Factors, Reflex, Journal Article, Animals, Humans, MICRODELETION, Genetic Predisposition to Disease, JUVENILE MYOCLONIC EPILEPSY, Zebrafish, COPY NUMBER VARIANTS, Epilepsy, Neurologie [D14] [Sciences de la santé humaine], Research Support, Non-U.S. Gov't, Electroencephalography, Original Articles, GENETIC DISSECTION, FAMILY, DNA-Binding Proteins, DE-NOVO MUTATIONS, Gene Knockdown Techniques, Mutation, Photic Stimulation, LENNOX-GASTAUT SYNDROME, IDIOPATHIC GENERALIZED EPILEPSY, ENCEPHALOPATHIES

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fcb236cd2f91be37e81fb911a4fd3e68Test
http://europepmc.org/articles/PMC4407192Test