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1دورية أكاديمية
المؤلفون: Mattison, Kari, Tossing, Gilles, Mulroe, Fred, Simmons, Callum, Butler, Kameryn, Schreiber, Alison, Alsadah, Adnan, Neilson, Derek, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Sorlin, Arthur, McCann, Emma, Burghel, George, Menendez, Beatriz, Hoganson, George, Botto, Lorenzo, Filloux, Francis, Aledo-Serrano, Ángel, Gil-Nagel, Antonio, Tatton-Brown, Katrina, Verbeek, Nienke, van der Zwaag, Bert, Aleck, Kyrieckos, Fazenbaker, Andrew, Balciuniene, Jorune, Dubbs, Holly, Marsh, Eric, Garber, Kathryn, Ek, Jakob, Duno, Morten, Hoei-Hansen, Christina, Deardorff, Matthew, Raca, Gordana, Quindipan, Catherine, van Hirtum-Das, Michele, Breckpot, Jeroen, Hammer, Trine, Møller, Rikke, Whitney, Andrea, Douglas, Andrew, Kharbanda, Mira, Brunetti-Pierri, Nicola, Morleo, Manuela, Nigro, Vincenzo, May, Halie, Tao, James, Sherr, Elliot, Dobyns, William, Baines, Richard, Warwicker, Jim, Parker, J, Banka, Siddharth, Campeau, Philippe, Escayg, Andrew, Argilli, Emanuela
المصدر: Brain: a journal of neurology. 146(4)
مصطلحات موضوعية: ATP6V0C, V-ATPase, VMA3, epilepsy genetics, neurodevelopmental disorders, Humans, Vacuolar Proton-Translocating ATPases, Saccharomyces cerevisiae, Epilepsy, Adenosine Triphosphate
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8hz365sfTest
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2دورية أكاديمية
المؤلفون: Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E H, van Jaarsveld, Richard H, Oegema, Renske, van Gassen, Koen L I, Holwerda, Sjoerd J B, Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y, Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K, Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan
المساهمون: Integrale & Alg. Kindergen Patientenzorg, Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Brain
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Epilepsy/genetics, Exome Sequencing, Female, Genetic Diseases, X-Linked/genetics, Heterozygote, Humans, Infant, Male, Mutation, Missense/genetics, Neurodevelopmental Disorders/genetics, Pedigree, Phenotype, Shal Potassium Channels/genetics, Journal Article
وصف الملف: application/pdf
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3دورية أكاديمية
المؤلفون: Romagnolo, Alessia, Dematteis, Giulia, Scheper, Mirte, Luinenburg, Mark J, Mühlebner, Angelika, Van Hecke, Wim, Manfredi, Marcello, De Giorgis, Veronica, Reano, Simone, Filigheddu, Nicoletta, Bortolotto, Valeria, Tapella, Laura, Anink, Jasper J, François, Liesbeth, Dedeurwaerdere, Stefanie, Mills, James D, Genazzani, Armando A, Lim, Dmitry, Aronica, Eleonora
المساهمون: Pathologie Pathologen staf, Brain, Cancer, Pathologie
مصطلحات موضوعية: Astrocytes/pathology, Calcium Signaling, Calcium/metabolism, Epilepsy/genetics, Homeostasis, Humans, Seizures, TOR Serine-Threonine Kinases/metabolism, Tuberous Sclerosis/pathology, Astrocytes, Epilepsy, Mitochondria, mTOR, Tuberous sclerosis complex, Clinical Neurology, Cellular and Molecular Neuroscience, Pathology and Forensic Medicine, Journal Article
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: Lin, Susan X N, Ahring, Philip K, Keramidas, Angelo, Liao, Vivian W Y, Møller, Rikke S, Chebib, Mary, Absalom, Nathan L
المصدر: Lin , S X N , Ahring , P K , Keramidas , A , Liao , V W Y , Møller , R S , Chebib , M & Absalom , N L 2024 , ' Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity ' , Brain : a journal of neurology , vol. 147 , no. 1 , pp. 224-239 . https://doi.org/10.1093/brain/awad285Test
مصطلحات موضوعية: Animals, Humans, Infant, Newborn, Gain of Function Mutation, Mutation/genetics, Epilepsy/genetics, Seizures, Epilepsy, Generalized, Movement Disorders, Mammals/metabolism, Receptors, GABA-A/genetics
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/f55d9e3b-770d-4760-905f-91e9810efe64Test
الإتاحة: https://doi.org/10.1093/brain/awad285Test
https://portal.findresearcher.sdu.dk/da/publications/f55d9e3b-770d-4760-905f-91e9810efe64Test
https://findresearcher.sdu.dk/ws/files/252821211/awad285.pdfTest -
5دورية أكاديمية
المؤلفون: de Nys, Rebekah, van Eyk, Clare L., Ritchie, Tarin, Møller, Rikke S., Scheffer, Ingrid E., Marini, Carla, Bhattacharjee, Rudrarup, Kumar, Raman, Gecz, Jozef
المصدر: de Nys , R , van Eyk , C L , Ritchie , T , Møller , R S , Scheffer , I E , Marini , C , Bhattacharjee , R , Kumar , R & Gecz , J 2024 , ' Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy ' , Translational Psychiatry , vol. 14 , 65 . https://doi.org/10.1038/s41398-024-02783-5Test
مصطلحات موضوعية: Cadherins/genetics, Cluster Analysis, Epilepsy/genetics, Humans, Multiomics, Proteomics, Protocadherins
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/d2c35aff-2c41-473d-87b9-2e8431f4152fTest
الإتاحة: https://doi.org/10.1038/s41398-024-02783-5Test
https://portal.findresearcher.sdu.dk/da/publications/d2c35aff-2c41-473d-87b9-2e8431f4152fTest
https://findresearcher.sdu.dk/ws/files/254585901/Open_Access_Version.pdfTest -
6دورية أكاديمية
المؤلفون: Katrine M. Johannesen, Eduardo Pérez-Palma, Guido Rubboli
المصدر: Frontiers in Neuroscience, Vol 17 (2023)
مصطلحات موضوعية: SLC6A1, epilepsy, epilepsy genetics, neurodevelopmental disorders, genetics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnins.2023.1289821/fullTest; https://doaj.org/toc/1662-453XTest
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7دورية أكاديمية
المؤلفون: Katrine M. Johannesen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A. Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R. Heidlebaugh, Kathryn F. Oetjens, Anna Abuli Vidal, Jakob Christensen, Jacob Tiller, Amber N. Freed, Rikke S. Møller, Guido Rubboli
المصدر: Frontiers in Neuroscience, Vol 17 (2023)
مصطلحات موضوعية: SLC6A1, neurodevelopmental disorders, epilepsy, epilepsy genetics, intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnins.2023.1216653/fullTest; https://doaj.org/toc/1662-453XTest
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8
المؤلفون: Eisfeldt, Jesper, Schuy, Jakob, Stattin, Eva-Lena, Kvarnung, Malin, Falk, Anna, Feuk, Lars, Lindstrand, Anna
المصدر: International Journal of Molecular Sciences StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 23(16)
مصطلحات موضوعية: Autistic Disorder/genetics, Chromosome Mapping, Epilepsy/genetics, Humans, Osteoporosis/genetics, Protein Serine-Threonine Kinases/genetics, Translocation, Genetic, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Cell- och molekylärbiologi, Medical and Health Sciences, Basic Medicine, Cell and Molecular Biology
الوصول الحر: https://lup.lub.lu.se/record/1f0fa34b-aa3b-4959-b96a-97c9305cbc38Test
http://dx.doi.org/10.3390/ijms23169392Test -
9دورية أكاديمية
المؤلفون: Elissa Yozawitz, Solomon L. Moshé
المصدر: Acta Epileptologica, Vol 4, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Syndrome, Epilepsy syndrome, Genetics, History of epilepsy genetics, ILAE history, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2524-4434Test
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10دورية أكاديمية
المؤلفون: Giovanni Battista Dell’Isola, Elisabetta Mencaroni, Antonella Fattorusso, Giorgia Tascini, Paolo Prontera, Valentina Imperatore, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti
المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-5 (2022)
مصطلحات موضوعية: PCDH19, AEDs, Epilepsy genetics, Case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test