المؤلفون: Czornyj, Liliana^Aff4, Auzmendi, Jerónimo^{Aff5, Aff6}, Lazarowski, Alberto^Aff6

المساهمون: Rocha, Luisa L., editor^Aff1, Lazarowski, Alberto, editor^Aff2, Cavalheiro, Esper A., editor^Aff3

المصدر: Pharmacoresistance in Epilepsy : From Genes and Molecules to Promising Therapies. :177-206

المؤلفون: Alice Man, Matteo Di Scipio, Shan Grewal, Yujin Suk, Elisabetta Trinari, Resham Ejaz, Robyn Whitney

المصدر: Genes, Vol 15, Iss 3, p 332 (2024)

مصطلحات موضوعية: genetic epilepsies, mTORopathies, tuberous sclerosis complex, precision medicine, focal cortical dysplasia, genetic testing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/15/3/332; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/f7086ae01fbb41b29e3fdd8b05056733

المؤلفون: Korotkov, Anatoly, Luinenburg, Mark J., Romagnolo, Alessia, Zimmer, Till S., van Scheppingen, Jackelien^{Aff1, Aff2}, Bongaarts, Anika, Broekaart, Diede W. M., Anink, Jasper J., Mijnsbergen, Caroline, Jansen, Floor E., van Hecke, Wim, Spliet, Wim G., van Rijen, Peter C., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Crino, Peter B., Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C., Kwiatkowski, David J., Jozwiak, Sergiusz, Curatolo, Paolo, Mühlebner, Angelika, van Vliet, Erwin A.^{Aff1, Aff17}, Mills, James D.^{Aff1, Aff18}, Aronica, Eleonora^{Aff1, Aff19, IDs11689022094162_cor28}

المصدر: Journal of Neurodevelopmental Disorders. 14(1)

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المؤلفون: Anatoly Korotkov, Mark J. Luinenburg, Alessia Romagnolo, Till S. Zimmer, Jackelien van Scheppingen, Anika Bongaarts, Diede W. M. Broekaart, Jasper J. Anink, Caroline Mijnsbergen, Floor E. Jansen, Wim van Hecke, Wim G. Spliet, Peter C. van Rijen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek, Josef Zamecnik, Peter B. Crino, Katarzyna Kotulska, Lieven Lagae, Anna C. Jansen, David J. Kwiatkowski, Sergiusz Jozwiak, Paolo Curatolo, Angelika Mühlebner, Erwin A. van Vliet, James D. Mills, Eleonora Aronica

المصدر: Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Cerebral cortex development, Neurodevelopmental disorders, Cell adhesion, mTORopathies, Epilepsy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1866-1947; https://doaj.org/toc/1866-1955

URL الوصول: https://doaj.org/article/9e33560efb00425a8bb93db1a513ea16

المؤلفون: Nathalie Bouquier, Enora Moutin, Lionel A. Tintignac, Amandine Reverbel, Elodie Jublanc, Michael Sinnreich, Yan Chastagnier, Julien Averous, Pierre Fafournoux, Chiara Verpelli, Tobias Boeckers, Gilles Carnac, Julie Perroy, Vincent Ollendorff

المصدر: BMC Biology, Vol 18, Iss 1, Pp 1-17 (2020)

مصطلحات موضوعية: mTor signaling, mTORC1 Biosensor, BRET, Muscle differentiation, mToropathies, Neuronal activity, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12915-020-00790-8; https://doaj.org/toc/1741-7007

URL الوصول: https://doaj.org/article/de858ec3955d4d94a438dc5be235f72e

المؤلفون: Erica Valencic, Prisca Da Lozzo, Gianluca Tornese, Elena Ghirigato, Francesco Facca, Elisa Piscianz, Flavio Faletra, Andrea Taddio, Alberto Tommasini, Andrea Magnolato

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: RASopathies, mTORopathies, Ras/MAPK, recent bone marrow emigrants, flow cytometry, immune dysregulation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.703613/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/6b34180d04494014b874929daadc1d44

المؤلفون: Bouquier, Nathalie, Moutin, Enora, Tintignac, Lionel A., Reverbel, Amandine, Jublanc, Elodie, Sinnreich, Michael, Chastagnier, Yan, Averous, Julien, Fafournoux, Pierre, Verpelli, Chiara, Boeckers, Tobias, Carnac, Gilles, Perroy, Julie^Aff1, Ollendorff, Vincent^Aff3

المصدر: BMC Biology. 18(1)

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