المؤلفون: Mathilde Veneziano Broccia, Julia Vergier, Audrey Benoit, Yoann Huguenin, Anne Lambilliotte, Marie Pierre Castex, Stephanie Gourdon, Ghislaine Ithier, Kamila Kebaili, Pierre Rohrlich, Corinne Pondarre, Abdourahim Chamouine, Pauline Simon, Kokou Placide Agbo Kpati, Slimane Allali, Sandrine Baron-Joly, Sophie Bayart, Nicolas Billaud, Valentine Brousse, Cecile Dumesnil, Nathalie Garnier, Isabelle Guichard, Laure Joseph, Annie Kamdem, Julie Maitre, Catherine Mathey, Catherine Paillard, Aurelie Phulpin, Cecile Renard, Cecile Stoven, Mohamed Touati, Capucine Trochu, Suzanne Mathieu Nafissi, Catherine Badens, Sarah Szepetowski, Isabelle Thuret

المصدر: Haematologica, Vol 999, Iss 1 (2024)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://haematologica.org/article/view/11455Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test

الوصول الحر: https://doaj.org/article/c9cd9bf063f14502a2b276034138b71dTest

المؤلفون: Mathilde Veneziano, Audrey Benoit, Yoann Huguenin, Anne Lambilliotte, Marie-Pierre Castex, Stephanie Gourdon, Ghislaine Ithier, Kamila Kebaili, Pierre-Simon Rohrlich, Corinne Pondarre, Abdourahim Chamouine, Pauline Simon, Placide Agbo-Kpati-Kokou, Slimane Allali, Sandrine Baron-Joly, Sophie Bayart, Nicolas Billaud, Valentine Brousse, Cecile Dumesnil, Nathalie Garnier, Isabelle Guichard, Laure Joseph, Annie Kamdem, Julie Maitre, Catherine Mathey, Catherine Paillard, Aurélie Phulpin, Cécile Renard, Cecile Stoven, Mohamed Touati, Capucine Trochu, Suzanne Mathieu, Julia Vergier, Catherine Badens, Szepetowski Sarah, Isabelle Thuret

المصدر: HemaSphere, Vol 7, p e77759aa (2023)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: http://journals.lww.com/10.1097/01.HS9.0000972688.77759.aaTest; https://doaj.org/toc/2572-9241Test

الوصول الحر: https://doaj.org/article/697a6df9113e4fdd9ea248e91b76280fTest

المؤلفون: Szepetowski, S., Pondarré, C., Thuret, I.

المصدر: EMC - Pediatría; March 2024, Vol. 59 Issue: 1 p1-9, 9p

المؤلفون: Cloarec, Robin, Bruneau, Nadine, Rudolf, Gabrielle, Massacrier, Annick, Salmi, Manal, Bataillard, Marc, Boulay, Clotilde, Caraballo, Roberto, Fejerman, Natalio, Genton, Pierre, Hirsch, Edouard, Hunter, Alasdair, Lesca, Gaetan, Motte, Jacques, Roubertie, Agathe, Sanlaville, Damien, Wong, Sau-Wei, Rochette, Jacques, Ptácek, Louis, Szepetowski, Pierre, Fu, Ying-hui

المصدر: Neurology. 79(21)

مصطلحات موضوعية: Base Sequence, Chorea, Dyskinesias, Epilepsy, Benign Neonatal, Female, Genetic Linkage, Humans, Infant, Male, Membrane Proteins, Middle Aged, Migraine Disorders, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Pedigree, Seizures

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/87m476njTest

المؤلفون: Lee, Hsien-Yang, Huang, Yong, Bruneau, Nadine, Roll, Patrice, Roberson, Elisha DO, Hermann, Mark, Quinn, Emily, Maas, James, Edwards, Robert, Ashizawa, Tetsuo, Baykan, Betul, Bhatia, Kailash, Bressman, Susan, Bruno, Michiko K, Brunt, Ewout R, Caraballo, Roberto, Echenne, Bernard, Fejerman, Natalio, Frucht, Steve, Gurnett, Christina A, Hirsch, Edouard, Houlden, Henry, Jankovic, Joseph, Lee, Wei-Ling, Lynch, David R, Mohammed, Shehla, Müller, Ulrich, Nespeca, Mark P, Renner, David, Rochette, Jacques, Rudolf, Gabrielle, Saiki, Shinji, Soong, Bing-Wen, Swoboda, Kathryn J, Tucker, Sam, Wood, Nicholas, Hanna, Michael, Bowcock, Anne M, Szepetowski, Pierre, Fu, Ying-Hui, Ptáček, Louis J

المصدر: Cell reports. 1(1)

مصطلحات موضوعية: Central Nervous System, Animals, Humans, Mice, Rats, Seizures, Dystonia, Membrane Proteins, Nerve Tissue Proteins, Pedigree, Sequence Alignment, Sequence Analysis, DNA, Chromosome Segregation, Species Specificity, Amino Acid Sequence, Protein Binding, Phenotype, Mutation, Alleles, Genome, Human, Molecular Sequence Data, Female, Male, Mutant Proteins, Synaptosomal-Associated Protein 25, DNA Copy Number Variations, HEK293 Cells, Neurosciences, Pediatric, Genetics, Biochemistry and Cell Biology, Medical Physiology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/88d9t6h1Test

المؤلفون: Xiao Mao, Nadine Bruneau, Quwen Gao, Hélène Becq, Zhengjun Jia, Hui Xi, Li Shu, Hua Wang, Pierre Szepetowski, Laurent Aniksztejn

المصدر: Frontiers in Cellular Neuroscience, Vol 14 (2020)

مصطلحات موضوعية: epilepsy of infancy with migrating focal seizures, KNa channels, KCNT genes, epilepsy, encephalopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fncel.2020.00001/fullTest; https://doaj.org/toc/1662-5102Test

الوصول الحر: https://doaj.org/article/8bb330b9083748019e9f0984ed78b8c0Test

المؤلفون: Happ, HC, Sadleir, LG, Zemel, M, de Valles-Ibáñez, G, Hildebrand, MS, McConkie-Rosell, A, McDonald, M, May, H, Sands, T, Aggarwal, V, Elder, C, Feyma, T, Bayat, A, Møller, RS, Fenger, CD, Klint Nielsen, JE, Datta, AN, Gorman, KM, King, MD, Linhares, ND, Burton, BK, Paras, A, Ellard, S, Rankin, J, Shukla, A, Majethia, P, Olson, RJ, Muthusamy, K, Schimmenti, LA, Starnes, K, Sedláčková, L, Štěrbová, K, Vlčková, M, Laššuthová, P, Jahodová, A, Porter, BE, Couque, N, Colin, E, Prouteau, C, Collet, C, Smol, T, Caumes, R, Vansenne, F, Bisulli, F, Licchetta, L, Person, R, Torti, E, McWalter, K, Webster, R, Gerard, EE, Lesca, G, Szepetowski, P, Scheffer, IE, Mefford, HC, Carvill, GL

العلاقة: pii: WNL.0000000000201492; Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D. ,. Carvill, G. L. (2023). Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology, 100 (6), pp.e603-e615. https://doi.org/10.1212/WNL.0000000000201492Test.; http://hdl.handle.net/11343/339796Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000201492Test
http://hdl.handle.net/11343/339796Test

المؤلفون: Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D., Linhares, N., Burton, B. K., Paras, A., Ellard, S., Rankin, J., Shukla, A., Majethia, P., Olson, R. J., Muthusamy, K., Schimmenti, L. A., Starnes, K., Sedlackova, L., Sterbova, K., Vlckova, M., Lassuthova, P., Jahodova, A., Porter, B. E., Couque, N., Colin, E., Prouteau, C., Collet, C., Smol, T., Caumes, R., Vansenne, F., Bisulli, F., Licchetta, L., Person, R., Torti, E., McWalter, K., Webster, R., Gerard, E. E., Lesca, G., Szepetowski, P., Scheffer, I. E., Mefford, H. C., Carvill, G. L.

العلاقة: http://www.neurology.org/cgi/pmidlookup?view=long&pmid=36307226Test; Neurology. 2022 Oct 28:10.1212/WNL.0000000000201492. doi:10.1212/WNL.0000000000201492.; https://rde.dspace-express.com/handle/11287/622755Test; Neurology

الإتاحة: https://doi.org/10.1212/wnl.0000000000201492Test
https://doi.org/10.1212/WNL.0000000000201492Test
https://rde.dspace-express.com/handle/11287/622755Test

المؤلفون: Paul Saultier, Sarah Szepetowski, Matthias Canault, Céline Falaise, Marjorie Poggi, Pierre Suchon, Vincent Barlogis, Gérard Michel, Stéphane Loyau, Martine Jandrot-Perrus, Jean-Claude Bordet, Marie-Christine Alessi, Hervé Chambost

المصدر: Haematologica, Vol 103, Iss 6 (2018)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://haematologica.org/article/view/8505Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test

الوصول الحر: https://doaj.org/article/8e9f9a1052bc4f338215351a82d88780Test

المؤلفون: Robin Cloarec, Sylvian Bauer, Natacha Teissier, Fabienne Schaller, Hervé Luche, Sandra Courtens, Manal Salmi, Vanessa Pauly, Emilie Bois, Emilie Pallesi-Pocachard, Emmanuelle Buhler, François J. Michel, Pierre Gressens, Marie Malissen, Thomas Stamminger, Daniel N. Streblow, Nadine Bruneau, Pierre Szepetowski

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

مصطلحات موضوعية: cytomegalovirus, microglia, rat model, fetal brain, neurological outcome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://journal.frontiersin.org/article/10.3389/fncel.2018.00055/fullTest; https://doaj.org/toc/1662-5102Test

الوصول الحر: https://doaj.org/article/63b2d4afd38e434c9e4dd67eb610625aTest