المؤلفون: Gokce-Samar, Z., de Bellescize, J., Arzimanoglou, A., Putoux, A., Chatron, N., Lesca, G., Portes, V. des

المصدر: In European Journal of Medical Genetics December 2022 65(12)

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المؤلفون: Chatron, N., Becker, F., Morsy, H., Schmidts, M., Hardies, K., Tuysuz, B., Roselli, Sandra, Najafi, M., Alkaya, D. U., Ashrafzadeh, F., Nabil, A., Omar, T., Maroofian, R., Karimiani, E. G., Hussien, H., Kok, F., Ramos, L., Gunes, N., Bilguvar, K., Labalme, A., Alix, E., Sanlaville, D., de Bellescize, J., Poulat, A. L., Moslemi, Ali-Reza, Lerche, H., May, P., Lesca, G., Weckhuysen, S., Tajsharghi, H., EuroEpinomics, R. E. S. Consortium A. R. Wo

المصدر: Brain. 143(5):1447-1461

مصطلحات موضوعية: Neurosciences, Neurovetenskaper, GAD1, suppression-burst, hypsarrhythmia, arthrogryposis, omphalocele, cleft palate, glutamic-acid decarboxylase, gamma-aminobutyric-acid, de-novo mutations, cleft-palate, 67-kda isoform, gene, mice, schizophrenia, classification, association, Neurosciences & Neurology

URL الوصول: https://gup.ub.gu.se/publication/294823

المؤلفون: Bedoin, Nathalie, Ferragne, Emmanuel, Lopez, Céline, Herbillon, Vania, De Bellescize, J., des Portes, Vincent

المصدر: In Epilepsy and Behavior 2011 21(1):42-51

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المؤلفون: Chatron, N, Becker, F, Morsy, H, Schmidts, M, Hardies, K, Tuysuz, B, Roselli, S, Najafi, M, Alkaya, DU, Ashrafzadeh, F, Nabil, A, Omar, T, Maroofian, R, Karimiani, EG, Hussien, H, Kok, F, Ramos, L, Gunes, N, Bilguvar, K, Labalme, A, Alix, E, Sanlaville, D, de Bellescize, J, Poulat, A-L, EuroEpinomics-RES consortium AR working group, Moslemi, A-R, Lerche, H, May, P, Lesca, G, Weckhuysen, S, Tajsharghi, H

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], University of Luxembourg: High Performance Computing - ULHPC [research center]

مصطلحات موضوعية: cleft palate, Epilepsy, Hypsarrhythmia, omphalocele, GAD1, Suppression-burs, Developmental Syndrome, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], arthrogryposis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e1d5d958c0088610c4f09ff7f43a15b3
http://orbilu.uni.lu/handle/10993/42973

المؤلفون: Bedoin, N., Herbillon, V., Lamoury, I., Arthaud-Garde, P., Ostrowsky, K., De Bellescize, J., Kéo Kosal, P., Damon, G., Rousselle, Ch.

المصدر: In Epilepsy and Behavior 2006 9(2):268-274

المؤلفون: Baldassari, S., Picard, F., Verbeek, N.E., Kempen, M. van, Brilstra, E.H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., Saint Martin, A. de, Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmuller, G., Sisodiya, S., Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E.H., Jansen, F.E., Braun, K., Jong, D. de, Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M.L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A.S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D.R., Lindstrom, K., Striano, P., Lomax, L.B., Kiss, C., Bartolomei, F., Lepine, A.F., Schoonjans, A.S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., Bellescize, J. de, Catenoix, H., Dorn, T., Zenker, M., Muller-Schluter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C.J., Weckhuysen, S., Poduri, A., Lemke, J.R., Moller, R.S., Baulac, S.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b54f9cae562a7c3c47dd2288ef9ba2d9
https://hdl.handle.net/1887/120821

المؤلفون: Strehlow, V., Heyne, H.O., Vlaskamp, D.R.M., Marwick, K.F.M., Rudolf, G., Bellescize, J. de, Biskup, S., Brilstra, E.H., Brouwer, O.F., Callenbach, P.M.C., Hentschel, J., Hirsch, E., Kind, P.C., Mignot, C., Platzer, K., Rump, P., Skehel, P.A., Wyllie, D.J.A., Hardingham, G.E., Ravenswaaij-Arts, C.M.A. van, Koolen, D.A., Willemsen, M.H., Lesca, G., Lemke, J.R.

المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP), UCL - (MGD) Service de pédiatrie, UCL - SSS/IREC/MONT - Pôle Mont Godinne, univOAK, Archive ouverte, University Hospital Leipzig, Massachusetts General Hospital [Boston], Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], University of Groningen [Groningen], University of Edinburgh, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Strasbourg, Centre Hospitalier Universitaire de Lyon (CHU Lyon), CeGaT GmbH, University Medical Center [Utrecht], Hôpital de Hautepierre [Strasbourg], Institute for Stem Cell Science and Regenerative Medicine [Bangalore, Inde] (inStem), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de référence Déficiences Intellectuelles de Causes Rares [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), GRIN2A study group: Alexis Arzimanoglou, Paul B Augustijn, Patrick Van Bogaert, Helene Bourry, Peter Burfeind, Yoyo Chu, Brian Chung, Diane Doummar, Patrick Edery, Aviva Fattal-Valevski, Mélanie Fradin, Marion Gerard, Christa de Geus, Boudewijn Gunning, Danielle Hasaerts, Ingo Helbig, Katherine L Helbig, Rami Jamra, Mélanie Jennesson Lyver, Jolien S Klein Wassink-Ruiter, David A Koolen, Damien Lederer, Roelineke J Lunsing, Mikaël Mathot, Hélène Maurey, Shay Menascu, Anne Michel, Ghayda Mirzaa, Diana Mitter, Hiltrud Muhle, Rikke S Møller, Caroline Nava, Margaret O'Brien, Evelyn van Pinxteren-Nagler, Anne van Riesen, Christelle Rougeot, Damien Sanlaville, Jolanda H Schieving, Steffen Syrbe, Hermine E Veenstra-Knol, Nienke Verbeek, Dorothée Ville, Yvonne J Vos, Pascal Vrielynck, Sabrina Wagner, Sarah Weckhuysen, Marjolein H Willemsen

المصدر: Brain : a journal of neurology, 142(1), 80. Oxford University Press
Brain, 142(1), 80-92. Oxford University Press
Brain : a journal of neurology, Vol. 142, no. 1, p. 80-92 (2019)
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A & Lesca, G & Lemke, J R 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80–92 . https://doi.org/10.1093/brain/awy304
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2019, 142 (1), pp.80-92. ⟨10.1093/brain/awy304⟩
Brain, 142, 80-92
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A, Lesca, G, Lemke, J R, GRIN2A study group & Møller, R S 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80-92 . https://doi.org/10.1093/brain/awy304
Brain
Brain, 142, 1, pp. 80-92

مصطلحات موضوعية: GLUN2A, Adult, Male, Adolescent, Genotype, [SDV.GEN] Life Sciences [q-bio]/Genetics, VARIANTS, Neurodevelopmental Disorders/genetics, Receptors, N-Methyl-D-Aspartate, Epilepsy/genetics, Cerebellar Cortex, Young Adult, channelopathy, GRIN2A MUTATIONS, Research Support, N.I.H., Extramural, Journal Article, Animals, Humans, Child, EPILEPSY, Cells, Cultured, Aged, [SDV.GEN]Life Sciences [q-bio]/Genetics, SPECTRUM, learning disability, Receptors, N-Methyl-D-Aspartate/genetics, Research Support, Non-U.S. Gov't, childhood epilepsy, Cerebellar Cortex/metabolism, Infant, ENCEPHALOPATHY, Original Articles, Middle Aged, spike-wave EEG, Rats, Editor's Choice, Phenotype, NMDA, Neurodevelopmental Disorders, Child, Preschool, molecular genetics, SUBUNIT, Mutation, Female, APHASIA, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c7c4221de5d2b36826e39f9bd5d115e2
https://dspace.library.uu.nl/handle/1874/378344