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1Academic Journal
المؤلفون: Macnee, Marie, Pérez-Palma, Eduardo, López-Rivera, Javier A., Ivaniuk, Alina, May, Patrick, Møller, Rikke S., Lal, Dennis
المصدر: Macnee , M , Pérez-Palma , E , López-Rivera , J A , Ivaniuk , A , May , P , Møller , R S & Lal , D 2023 , ' Data-driven historical characterization of epilepsy-associated genes ' , European Journal of Paediatric Neurology , vol. 42 , pp. 82-87 . https://doi.org/10.1016/j.ejpn.2022.12.005
مصطلحات موضوعية: Epilepsy, Epilepsy genes, Genetics, Literature review, Monogenic, Variant function
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: EuroEPINOMICS-RES Consortium, EpiCNV Consortium, Coppola, Antonietta, Cellini, Elena, Saarentaus, Elmo, Palotie, Aarno, Lehesjioki, Anna-Elina, von Spiczak, Sarah
المساهمون: Institute for Molecular Medicine Finland, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator, Department of Medical and Clinical Genetics, Research Programme for Molecular Neurology, Medicum, Genomics of Neurological and Neuropsychiatric Disorders
مصطلحات موضوعية: array CGH, copy number variants, epilepsy genes, SNP array, DE-NOVO MUTATIONS, MOLECULAR CHARACTERIZATION, CHROMOSOMAL MICROARRAY, ILAE COMMISSION, ONSET EPILEPSY, RORB GENE, PATIENT, ENCEPHALOPATHY, DISABILITIES, PHENOTYPE, Neurosciences, Neurology and psychiatry, Genetics, developmental biology, physiology
وصف الملف: application/pdf
Relation: The work was supported by grants from the Henry Smith Charity, Action Medical Research, the Wellcome Trust (084730), the Eurocores program EuroEPINOMICS-RES, the Fund for Scientific Research Flanders, the International Coordination Action (grant G0E8614N), the University of Antwerp (research fund); the NIHR Biomedical Research Centres funding scheme (University College London Hospitals), the European Union Seventh Framework Program FP7/2007-2013 under the project DESIRE to R.G. (grant agreement 602531; University of Florence, Italy), the Polish Ministry of Science and Higher Education (grant R13-0005-04/2008), and the Swiss National Science Foundation (32EP30_136042/1). H.S. is a PhD fellow of the Fund for Scientific Research Flanders (1125416N). T.Dj. was a PhD fellow of the Institute for Science and Technology (IWT). D.L. received funds from the German Academic Exchange Service (grant number 57073880). We also thank the Epilepsy Society for support. The funders had no role in the study design, in the collection, analysis, and interpretation of data, in writing the paper, or in the decision to submit the paper for publication.; EuroEPINOMICS-RES Consortium , EpiCNV Consortium , Coppola , A , Cellini , E , Saarentaus , E , Palotie , A , Lehesjioki , A-E & von Spiczak , S 2019 , ' Diagnostic implications of genetic copy number variation in epilepsy plus ' , Epilepsia , vol. 60 , no. 4 , pp. 689-706 . https://doi.org/10.1111/epi.14683; ORCID: /0000-0002-8475-7187/work/57046166; ORCID: /0000-0002-2527-5874/work/97266210; http://hdl.handle.net/10138/301411; 2d85b416-a5e4-4e8f-94bf-53bc0725f3c0; 000463267500012
الاتاحة: http://hdl.handle.net/10138/301411
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3Academic Journal
المؤلفون: Coppola, A, Cellini, E, Stamberger, H, Saarentaus, E, Cetica, V, Lal, D, Djémié, T, Bartnik-Glaska, M, Ceulemans, B, Helen Cross, J, Deconinck, T, Masi, SD, Dorn, T, Guerrini, R, Hoffman-Zacharska, D, Kooy, F, Lagae, L, Lench, N, Lemke, JR, Lucenteforte, E, Madia, F, Mefford, HC, Morrogh, D, Nuernberg, P, Palotie, A, Schoonjans, A-S, Striano, P, Szczepanik, E, Tostevin, A, Vermeesch, JR, Esch, HV, Paesschen, WV, Waters, JJ, Weckhuysen, S, Zara, F, Jonghe, PD, Sisodiya, SM, Marini, C, EuroEPINOMICS-RES Consortium, ., EpiCNV Consortium, .
المصدر: Epilepsia (2019) (In press).
مصطلحات موضوعية: SNP array, array CGH, copy number variants, epilepsy genes
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10071080/1/Coppola_et_al-2019-Epilepsia.pdf; https://discovery.ucl.ac.uk/id/eprint/10071080/
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4Academic Journal
المؤلفون: Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djemie, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Cross, J. Helen, Deconinck, Tine, De Masi, Salvatore, Dorn, Thomas, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, 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, Moller, Rikke S., Hjalgrim, Helle
المصدر: Coppola , A , Cellini , E , Stamberger , H , Saarentaus , E , Cetica , V , Lal , D , Djemie , T , Bartnik-Glaska , M , Ceulemans , B , Cross , J H , Deconinck , T , De Masi , S , 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 ....
مصطلحات موضوعية: SNP array, array CGH, copy number variants, epilepsy genes, Genetic Predisposition to Disease, Phenotype, Comorbidity, Humans, Epilepsy/complications, Genotype, DNA Copy Number Variations
وصف الملف: application/pdf
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5
المؤلفون: Marie Macnee, Eduardo Pérez-Palma, Javier A. López-Rivera, Alina Ivaniuk, Patrick May, Rikke S. Møller, Dennis Lal
المساهمون: Fonds National de la Recherche - FnR [sponsor], BMBF [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
مصطلحات موضوعية: Literature review, Epilepsy, Neurologie [D14] [Sciences de la santé humaine], Pédiatrie [D19] [Sciences de la santé humaine], Neurology [D14] [Human health sciences], Pediatrics [D19] [Human health sciences], Variant function, General Medicine, monogenic, Pediatrics, Perinatology and Child Health, Genetics, Neurology (clinical), Genetics & genetic processes [F10] [Life sciences], Epilepsy genes, Génétique & processus génétiques [F10] [Sciences du vivant]
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6
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)
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7Academic Journal
المؤلفون: Cestèle, Sandrine, Avanzini, Giuliano, Mantegazza, Massimo, Terragni, Benedetta, Canafoglia, Laura, Scalmani, Paolo, Franceschetti, Silvana
المساهمون: Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA), Department of Neurophysiopathology, IRCCS, COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Besta Neurological Institute, ANR-11-LABX-0015,ICST,Canaux ioniques d'intérêt thérapeutique(2011)
المصدر: ISSN: 0304-3940 ; Neuroscience Letters ; https://hal.science/hal-02562808 ; Neuroscience Letters, 2018, 667, pp.17-26. ⟨10.1016/j.neulet.2017.05.026⟩.
مصطلحات موضوعية: Cortical spreading depression, Depolarizing block, Excitability, FHM, Mutation, Seizures, Epilepsy classification, Epilepsy genes, Genetic epilepsies, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Relation: info:eu-repo/semantics/altIdentifier/pmid/28522348; hal-02562808; https://hal.science/hal-02562808; PUBMED: 28522348
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8
المصدر: てんかん治療研究振興財団研究年報. 11:83-91
مصطلحات موضوعية: benign familial neonatal convulsions (BFNC), epilepsy genes, benign adult familial myoclonic epilepsy (BAFME), autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), ion channel, 内科系臨床医学, 493.7
وصف الملف: application/pdf
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9Academic Journal
مصطلحات موضوعية: epilepsy genes, ion channel, benign adult familial myoclonic epilepsy (BAFME), autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), benign familial neonatal convulsions (BFNC), 493.7, 内科系臨床医学
وصف الملف: application/pdf
Relation: https://hirosaki.repo.nii.ac.jp/?action=repository_uri&item_id=3369; http://hdl.handle.net/10129/1750; てんかん治療研究振興財団研究年報. 11, 1999, p.83-91; てんかん治療研究振興財団研究年報, 11, 83-91(1999-11); AN10152636; https://hirosaki.repo.nii.ac.jp/?action=repository_action_common_download&item_id=3369&item_no=1&attribute_id=20&file_no=1
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10Electronic Resource
المؤلفون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Fonds National de la Recherche - FnR [sponsor], BMBF [sponsor], Macnee, Marie, Perez-Palma, Eduardo, Lopez-Rivera, Javier A., Ivaniuk, Alina, May, Patrick, Møller, Rikke S., Lal, Dennis
مصطلحات الفهرس: Epilepsy, monogenic, Literature review, Genetics, Variant function, Epilepsy genes, info:eu-repo/semantics/article