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1دورية أكاديمية
المؤلفون: Linda M. C. Koene, Saskia E. vanGrondelle, Martina Proietti Onori, Ilse Wallaard, Nathalie H. R. M. Kooijman, Annabel vanOort, Jadwiga Schreiber, Ype Elgersma
المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1273-1291 (2019)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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المؤلفون: Carmen B. Schäfer, Zhenyu Gao, Mark Nellist, de Brito van Velze M, van Woerden Gm, Linda M. C. Koene, Martina Proietti Onori, Ype Elgersma
مصطلحات موضوعية: Mutation, biology, Cortical malformations, medicine.disease, Somatosensory system, medicine.disease_cause, Phenotype, Epilepsy, medicine, biology.protein, Generalized epilepsy, Neuroscience, PI3K/AKT/mTOR pathway, RHEB
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::be8fbf565f9d47d4cca947158b943be9
https://doi.org/10.1101/2020.07.08.189399 -
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المؤلفون: Carmen B. Schäfer, Zhenyu Gao, Mark Nellist, Marcel de Brito van Velze, Martina Proietti Onori, Ype Elgersma, Geeske M. van Woerden, Linda M. C. Koene
المساهمون: Neurosciences, Clinical Genetics
المصدر: PLoS Biology
PLoS Biology, 19(5):e3001279. Public Library of Science
PLoS Biology, Vol 19, Iss 5, p e3001279 (2021)
Plos Biologyمصطلحات موضوعية: 0301 basic medicine, Physiology, Action Potentials, Electroencephalography, Toxicology, Pathology and Laboratory Medicine, Somatosensory system, Mice, Epilepsy, 0302 clinical medicine, Animal Cells, Medicine and Health Sciences, Toxins, Biology (General), Neurons, Clinical Neurophysiology, Brain Mapping, biology, Hyperactivation, medicine.diagnostic_test, TOR Serine-Threonine Kinases, General Neuroscience, Brain, Animal Models, Phenotype, Electrophysiology, Bioassays and Physiological Analysis, Experimental Organism Systems, Neurology, Brain Electrophysiology, Cellular Types, General Agricultural and Biological Sciences, Signal Transduction, Research Article, RHEB, QH301-705.5, Imaging Techniques, Toxic Agents, Neurophysiology, Mouse Models, Neuroimaging, Research and Analysis Methods, Transfection, Membrane Potential, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Model Organisms, Seizures, medicine, Animals, Generalized epilepsy, Molecular Biology Techniques, Molecular Biology, PI3K/AKT/mTOR pathway, General Immunology and Microbiology, Electrophysiological Techniques, Biology and Life Sciences, Somatosensory Cortex, Cell Biology, medicine.disease, Axons, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Cellular Neuroscience, Animal Studies, biology.protein, Ras Homolog Enriched in Brain Protein, Clinical Medicine, Neuroscience, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Linda M. C. Koene, Helen Heussler, Edwin Mientjes, Shashini T. Munshi, Femke M.S. de Vrij, Marlene van den Berg, A. Mattijs Punt, Geeske M. van Woerden, Steven A. Kushner, Diana C. Rotaru, Monica Sonzogni, Ype Elgersma, F. Isabella Zampeta, Rossella Avagliano Trezza, Stijn N V Bossuyt, Mark Williams, Jeffrey Stedehouder, Johan M. Kros, Ben Distel
المساهمون: Neurosciences, Psychiatry, Pathology, Pediatrics, Graduate School, Medical Biochemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, AII - Inflammatory diseases, ACS - Diabetes & metabolism, ACS - Atherosclerosis & ischemic syndromes
المصدر: Nature Neuroscience, 22(8), 1235-+. Nature Publishing Group
Nature neuroscience, 22(8), 1235-1247. Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, Gene isoform, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, biology, General Neuroscience, medicine.disease_cause, Subcellular localization, medicine.disease, Ubiquitin ligase, Cell biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Angelman syndrome, biology.protein, medicine, UBE3A, Missense mutation, Nuclear transport, Neuroscience, 030217 neurology & neurosurgery
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المؤلفون: Martina Proietti Onori, Ilse Wallaard, Annabel van Oort, Nathalie H. R. M. Kooijman, Ype Elgersma, Saskia E. van Grondelle, Linda M. C. Koene, Jadwiga Schreiber
المساهمون: Neurosciences
المصدر: Annals of Clinical and Translational Neurology, 6(7), 1273-1291. John Wiley & Sons Inc.
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1273-1291 (2019)
Annals of Clinical and Translational Neurologyمصطلحات موضوعية: 0301 basic medicine, Morpholines, medicine.medical_treatment, Neurosciences. Biological psychiatry. Neuropsychiatry, mTORC1, Mechanistic Target of Rapamycin Complex 1, Lamotrigine, Pharmacology, Epileptogenesis, Tuberous Sclerosis Complex 1 Protein, Vigabatrin, Mice, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Tuberous Sclerosis, medicine, Animals, RC346-429, Research Articles, PI3K/AKT/mTOR pathway, Mice, Knockout, Sirolimus, business.industry, TOR Serine-Threonine Kinases, Tumor Suppressor Proteins, General Neuroscience, Brain, medicine.disease, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, Anticonvulsants, Female, Ras Homolog Enriched in Brain Protein, Neurology (clinical), TSC1, Neurology. Diseases of the nervous system, Diet, Ketogenic, business, 030217 neurology & neurosurgery, Research Article, Ketogenic diet, medicine.drug, RC321-571
وصف الملف: application/pdf
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المؤلفون: Rossella, Avagliano Trezza, Monica, Sonzogni, Stijn N V, Bossuyt, F Isabella, Zampeta, A Mattijs, Punt, Marlene, van den Berg, Diana C, Rotaru, Linda M C, Koene, Shashini T, Munshi, Jeffrey, Stedehouder, Johan M, Kros, Mark, Williams, Helen, Heussler, Femke M S, de Vrij, Edwin J, Mientjes, Geeske M, van Woerden, Steven A, Kushner, Ben, Distel, Ype, Elgersma
المصدر: Nature neuroscience. 22(8)
مصطلحات موضوعية: Cell Nucleus, Male, Mice, Knockout, Neurons, Behavior, Animal, Ubiquitin-Protein Ligases, Mutation, Missense, RNA-Binding Proteins, Zinc Fingers, Electrophysiological Phenomena, Nesting Behavior, Isoenzymes, Mice, Cytosol, Animals, Humans, Female, Angelman Syndrome, Carrier Proteins, Psychomotor Performance, Swimming
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7دورية أكاديمية
المؤلفون: Martina Proietti Onori, Linda M C Koene, Carmen B Schäfer, Mark Nellist, Marcel de Brito van Velze, Zhenyu Gao, Ype Elgersma, Geeske M van Woerden
المصدر: PLoS Biology, Vol 19, Iss 5, p e3001279 (2021)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource