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

URL الوصول: https://doaj.org/article/e05c82d39b3c4ff89fe37a15d98d0ca2

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

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 Biology

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::367aebb6d0451a001d88fd4d67aa8bc5
https://doi.org/10.1371/journal.pbio.3001279

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 Group

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f92dd77d3397c167cc98539f8243ef5
https://doi.org/10.1038/s41593-019-0425-0

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 Neurology

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a284908e7685de6348a0906222d1efad
https://pure.eur.nl/en/publications/47e571a9-4fd8-4c2c-a42a-810fb0a23c37

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::eb3e5ddef64686f72a3f404d7c534333
https://pubmed.ncbi.nlm.nih.gov/31235931

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

Relation: https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/8d4f132af9724879a8c6978f1a598618