المؤلفون: Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, Andrew S Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, Mengqi Zhang, Epi4K Consortium, Epilepsy Phenome/Genome Project

المصدر: PLoS Genetics, Vol 14, Iss 5, p e1007281 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/39581fdc43d744058838751411b69c7f

المؤلفون: Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David M. Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson

المصدر: Cell Reports, Vol 25, Iss 10, Pp 2729-2741.e6 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124718317753; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/d95a7e66dd6f4400b94ec2e97ad2e7b3

المؤلفون: Adam C. O’Neill, Christina Kyrousi, Melanie Einsiedler, Ingo Burtscher, Micha Drukker, David M. Markie, Edwin P. Kirk, Magdalena Götz, Stephen P. Robertson, Silvia Cappello

المصدر: Frontiers in Cellular Neuroscience, Vol 12 (2018)

مصطلحات موضوعية: Mob2, Hippo pathway, periventricular heterotopia, cortical development, exome sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fncel.2018.00057/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/55a80b0d7f3942dc8de72836ea5c1499

المؤلفون: Adam C. O’Neill, Fatma Uzbas, Giulia Antognolli, Florencia Merino, Kalina Draganova, Alex Jäck, Sirui Zhang, Giorgia Pedini, Julia P. Schessner, Kimberly Cramer, Aloys Schepers, Fabian Metzger, Miriam Esgleas, Pawel Smialowski, Renzo Guerrini, Sven Falk, Regina Feederle, Saskia Freytag, Zefeng Wang, Melanie Bahlo, Ralf Jungmann, Claudia Bagni, Georg H. H. Borner, Stephen P. Robertson, Stefanie M. Hauck, Magdalena Götz

مصطلحات موضوعية: Centrosome, Neurons, Multidisciplinary, Proteome, Neurogenesis, Induced Pluripotent Stem Cells, Settore BIO/13, Brain, Microtubules, Alternative Splicing, Mice, Neural Stem Cells, Periventricular Nodular Heterotopia, Animals, Humans, Protein Interaction Maps, RNA Splicing Factors, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::588091084cf7a739ee133535ecb72bb4
https://hdl.handle.net/2108/317019

المؤلفون: Christina Kyrousi, Adam C. O'Neill, Agnieska Brazovskaja, Zhisong He, Pavel Kielkowski, Laure Coquand, Rossella Giaimo, Pierpaolo D' Andrea, Alexander Belka, Andrea Forero Echeverry, Davide

المصدر: Nature, Nature Communications. 12(1):1-22

الإتاحة: https://ideas.repec.org/a/nat/natcom/v12y2021i1d10.1038_s41467-021-26447-w.html

المؤلفون: Zhisong He, Matteo Lenge, Laure Coquand, Pierpaolo D' Andrea, Stephan A. Sieber, Adam C. O’Neill, Davide Mei, Silvia Cappello, Christina Kyrousi, Rossella Di Giaimo, Stephen P. Robertson, Alexandre D Baffet, Isabel Y. Buchsbaum, Andrea Forero Echeverry, Guimiot Fabien, Cristiana Cruceanu, Pavel Kielkowski, Agnieska Brazovskaja, Elisabeth B. Binder, Barbara Treutlein, Renzo Guerrini, Alexander Belka, Shahryar Khattak, Frances Elmslie

المساهمون: Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, National and Kapodistrian University of Athens (NKUA), University of Otago [Dunedin, Nouvelle-Zélande], Max Planck Institute for Evolutionary Anthropology [Leipzig], Department of Biosystems Science and Engineering [ETH Zürich] (D-BSSE), Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), Center for Integrated Protein Science (CIPSM), Technical University of Munich (TUM)-Helmholtz-Zentrum München (HZM)-Ludwig Maximilian University of Munich [Germany] (LMU München), Ludwig-Maximilians-Universität München (LMU), Optimisation thérapeutique en Neuropsychopharmacologie (OPTeN (UMR_S_1144 / U1144)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut Curie [Paris], University of Naples Federico II, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Technische Universität Dresden = Dresden University of Technology (TU Dresden), Royal College of Surgeons in Ireland (RCSI), Hôpital Robert Debré, University of London [London], Kyrousi, Christina, O'Neill, Adam C, Brazovskaja, Agnieska, He, Zhisong, Kielkowski, Pavel, Coquand, Laure, Di Giaimo, Rossella, D' Andrea, Pierpaolo, Belka, Alexander, Forero Echeverry, Andrea, Mei, Davide, Lenge, Matteo, Cruceanu, Cristiana, Buchsbaum, Isabel Y, Khattak, Shahryar, Fabien, Guimiot, Binder, Elisabeth, Elmslie, France, Guerrini, Renzo, Baffet, Alexandre D, Sieber, Stephan A, Treutlein, Barbara, Robertson, Stephen P, Cappello, Silvia, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Helmholtz-Zentrum München (HZM)-Ludwig Maximilian University of Munich [Germany] (LMU München)

المصدر: Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.6298. ⟨10.1038/s41467-021-26447-w⟩
Nature Communications, Vol 12, Iss 1, Pp 1-22 (2021)
Nature Communications, 12

مصطلحات موضوعية: [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, General Physics and Astronomy, Neocortex, Induced Pluripotent Stem Cell, Extracellular matrix, Mice, 0302 clinical medicine, Lateral Ventricle, Lateral Ventricles, Neural Stem Cell, Gyrification, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Cerebral Cortex, 0303 health sciences, Multidisciplinary, Neurodevelopmental disorders, Cell Differentiation, Human brain, Cell biology, ddc, Corticogenesis, medicine.anatomical_structure, Models, Animal, Female, Neuroglia, Human, Extracellular Vesicle, Science, Induced Pluripotent Stem Cells, Subventricular zone, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Extracellular Vesicles, Antigens, Neoplasm, Extracellular, medicine, Biomarkers, Tumor, Animals, Humans, Progenitor cell, 030304 developmental biology, Progenitor, Neural stem cells, Development of the nervous system, Neurological disorders, Animal, General Chemistry, Mice, Inbred C57BL, 030217 neurology & neurosurgery

وصف الملف: application/pdf; application/zip; application/application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e21a71472bb5228af51ead982868a7fc
https://hdl.handle.net/21.11116/0000-0009-7E51-F21.11116/0000-0009-7E53-D21.11116/0000-0009-7E54-C

المؤلفون: Anna Pertek, Chaido Ori, Micha Drukker, Tobias Greisle, Ejona Rusha, Adam C. O’Neill, Markus Grosch, Sebastian Ittermann, Gil G. Westmeyer, Dong-Jiunn Jeffery Truong

المصدر: BMC Biology
BMC Biology, Vol 18, Iss 1, Pp 1-19 (2020)

مصطلحات موضوعية: Pluripotent Stem Cells, Cell type, Physiology, Cellular differentiation, Cell, Plant Science, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, medicine, Humans, Induced pluripotent stem cell, lcsh:QH301-705.5, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Cell Nucleus, 0303 health sciences, RNA, Cell Differentiation, Paraspeckle, DNA, Cell Biology, Paraspeckles, Cell biology, medicine.anatomical_structure, lcsh:Biology (General), RNA, Long Noncoding, General Agricultural and Biological Sciences, Nucleus, 030217 neurology & neurosurgery, Research Article, Developmental Biology, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5b43e884b834866005c108158b9b782
https://doi.org/10.1186/s12915-020-00770-y

المؤلفون: Isabel Y. Buchsbaum, Christina Kyrousi, Stephen P. Robertson, Rossella Di Giaimo, Silvia Cappello, Stephan A. Sieber, Grazia Giorgio, Pavel Kielkowski, Shahryar Khattak, Adam C. O’Neill

المساهمون: Buchsbaum, I. Y., Kielkowski, P., Giorgio, G., O'Neill, A. C., Di Giaimo, R., Kyrousi, C., Khattak, S., Sieber, S. A., Robertson, S. P., Cappello, S.

المصدر: EMBO Reports

مصطلحات موضوعية: Neurogenesis, periventricular heterotopia, Grey matter, Biology, Biochemistry, Article, neuronal migration disorders, cerebral organoid, neuronal migration disorder, Extracellular matrix, 03 medical and health sciences, Lateral ventricles, 0302 clinical medicine, Periventricular Nodular Heterotopia, Cell Movement, Pregnancy, Cortex (anatomy), Genetics, medicine, Humans, 10. No inequality, Molecular Biology, 030304 developmental biology, Cerebral Cortex, Neurons, 0303 health sciences, endothelin‐converting enzyme‐2, Genetic heterogeneity, Articles, endothelin-converting enzyme-2, ddc, human cortical development, medicine.anatomical_structure, Cerebral cortex, cerebral organoids, Excitatory postsynaptic potential, Female, Development & Differentiation, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d079e33d0ae0f50b17a66774222334f
https://doi.org/10.15252/embr.201948204

المؤلفون: Emma M. Wade, Zandra A. Jenkins, Stephen P. Robertson, Benjamin J. Halliday, Adam C. O’Neill

المصدر: Human mutationREFERENCES. 41(5)

مصطلحات موضوعية: Male, Cell signaling, Filamins, Protein domain, Computational biology, Biology, Filamin, Muscular Dystrophies, Diagnosis, Differential, 03 medical and health sciences, Genes, X-Linked, Genetics, FLNA, Humans, Genetic Predisposition to Disease, Actin-binding protein, Genetic Testing, Gene, Genetics (clinical), Alleles, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Facies, Genetic Variation, Cell migration, Phenotype, Radiography, Gene Expression Regulation, Organ Specificity, Gain of Function Mutation, Mutation, biology.protein, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::836cabdd78f2bf543fd6052a7981779c
https://pubmed.ncbi.nlm.nih.gov/32108395

المؤلفون: Mariana Schroeder, Johannes Klaus, Stephen P. Robertson, Silvia Cappello, Malgorzata Santel, Micha Drukker, Christina Kyrousi, Rossella Di Giaimo, Barbara Treutlein, J. Gray Camp, Adam C. O’Neill, Chiara Tocco, Ane Cristina Ayo-Martin, Ejona Rusha, Stephan Riesenberg, Sabina Kanton, Magdalena Götz

المساهمون: Klaus, J., Kanton, S., Kyrousi, C., Ayo-Martin, A. C., Di Giaimo, R., Riesenberg, S., O'Neill, A. C., Camp, J. G., Tocco, C., Santel, M., Rusha, E., Drukker, M., Schroeder, M., Gotz, M., Robertson, S. P., Treutlein, B., Cappello, S.

المصدر: Nature Medicine, 25
Nature Medicine

مصطلحات موضوعية: Organoid, 0301 basic medicine, Biology, Time-Lapse Imaging, General Biochemistry, Genetics and Molecular Biology, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Periventricular Nodular Heterotopia, Cell Movement, Progenitor cell, Induced pluripotent stem cell, Cerebrum, Tumor Suppressor Protein, DCHS1, Sequence Analysis, RNA, Cadherin, Infant, Newborn, General Medicine, Neuron, Phenotype, Neural stem cell, 3. Good health, Cell biology, Single-Cell Analysi, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Axon guidance, Human

وصف الملف: application/application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e13544b3b6e8d5f033c45744e8bf4cf
https://doi.org/10.1038/s41591-019-0371-0