المؤلفون: Mastrangelo, Mario, Greco, Carlo, Tolve, Manuela, Bartolini, Emanuele, Russo, Angelo, Nicita, Francesco, Pruna, Dario, Galli, Jessica, Favaro, Jacopo, Terrone, Gaetano, De Felice, Claudio, Pisani, Francesco

المصدر: In Seizure: European Journal of Epilepsy July 2024 119:119-127

المؤلفون: Rosenhahn, Erik, O'Brien, Thomas J., Zaki, Maha S., Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, Alkuraya, Fowsan S., Hashem, Mais O., Alhashem, Amal, Tabarki, Brahim, Alamri, Abdullah S., Al Safar, Ayat H., Bubshait, Dalal K., Alahmady, Nada F., Gleeson, Joseph G., Abdel-Hamid, Mohamed S., Lesko, Nicole, Ygberg, Sofia, Correia, Sandrina P., Wredenberg, Anna, Alavi, Shahryar, Seyedhassani, Seyed M., Ebrahimi Nasab, Mahya, Hussien, Haytham, Omar, Tarek E. I., Harzallah, Ines, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, Abdel-Salam, Ghada M. H., Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, Lemke, Johannes R., Sticht, Heinrich, Abou Jamra, Rami, Brown, Andre E. X., Maroofian, Reza, Platzer, Konrad

المصدر: American Journal of Human Genetics. 109(8):1421-1435

مصطلحات موضوعية: Acetylcholinesterase, Animals, Drosophila melanogaster, Epilepsy, Loss of Heterozygosity, Microcephaly, Nervous System Malformations, Neurodevelopmental Disorders, Pedigree, animal, genetics, heterozygosity loss, mental disease, nervous system malformation, Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-21694
https://doi.org/10.1016/j.ajhg.2022.06.008
https://his.diva-portal.org/smash/get/diva2:1688208/FULLTEXT01.pdf

المؤلفون: Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niels, Levy, Michael A., Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Boris, de Villemeur, Thierry B., Volker-Touw, Catharina M.L., Verbeek, Nienke, van der Smagt, Jasper J., Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni B., Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

المصدر: In Genetics in Medicine August 2023 25(8)

المؤلفون: Nunziata, Francesco^{Aff1, IDs1007202206076x_cor1}, Vassallo, Edoardo, Alessio, Maria, Romano, Alfonso, Vecchio, Andrea Lo, D’Amico, Alessandra, Buono, Giuseppe, Bruzzese, Eugenia, Guarino, Alfredo, Terrone, Gaetano

المصدر: Neurological Sciences. 43(8):4645-4648

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المؤلفون: Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W, Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander R, Pagnamenta, Alistair T, Wenninger-Weinzierl, Andrea, Martinez-Reza, Maria Fernanda, Landler, Lukas, Lise, Stefano, Taylor, Jenny C, Terrone, Gaetano, Vitiello, Giuseppina, Del Giudice, Ennio, Brunetti-Pierri, Nicola, D’Amico, Alessandra, Reymond, Alexandre, Voisin, Norine, Bernstein, Jonathan A, Farrelly, Ellyn, Kini, Usha, Leonard, Thomas A, Valence, Stéphanie, Burglen, Lydie, Armstrong, Linlea, Hiatt, Susan M, Cooper, Gregory M, Aldinger, Kimberly A, Dobyns, William B, Mirzaa, Ghayda, Pierson, Tyler Mark, Baas, Frank, Chelly, Jamel, Cowan, Nicholas J, Keays, David Anthony

المصدر: Neuron. 100(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Rare Diseases, Pediatric, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Neurological, Agenesis of Corpus Callosum, Animals, Animals, Newborn, Apoptosis, Brain, Cells, Cultured, Cerebellum, Child, Developmental Disabilities, Disease Models, Animal, Embryo, Mammalian, Female, Gene Expression Regulation, Developmental, Humans, Male, Malformations of Cortical Development, Mice, Mice, Inbred C57BL, Mice, Knockout, Microtubule-Associated Proteins, Mutation, Nerve Tissue Proteins, Nervous System Malformations, PAX6 Transcription Factor, MAST1, cerebellar hypoplasia, corpus callosum, microdeletion, microtubules, Psychology, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6zj1233t

المؤلفون: De Bernardi, Margherita Lucia, Di Stazio, Agnese, Romano, Alfonso, Minardi, Raffaella, Bisulli, Francesca, Licchetta, Laura, Aiello, Salvatore, Carelli, Valerio, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Terrone, Gaetano

المصدر: In European Journal of Medical Genetics May 2022 65(5)

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المؤلفون: Aronica, Eleonora, Bauer, Sebastian, Bozzi, Yuri, Caleo, Matteo, Dingledine, Raymond, Gorter, Jan A, Henshall, David C, Kaufer, Daniela, Koh, Sookyong, Löscher, Wolfgang, Louboutin, Jean‐Pierre, Mishto, Michele, Norwood, Braxton A, Palma, Eleonora, Poulter, Michael O, Terrone, Gaetano, Vezzani, Annamaria, Kaminski, Rafal M

المصدر: Epilepsia. 58(Suppl 3)

مصطلحات موضوعية: Epilepsy, Biotechnology, Neurosciences, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, 5.1 Pharmaceuticals, Development of treatments and therapeutic interventions, Neurological, Animals, Anticonvulsants, Brain, Clinical Trials as Topic, Disease Models, Animal, Drug Resistant Epilepsy, Drugs, Investigational, Humans, Neurogenic Inflammation, Inflammation, Immune response, Drug development, Anti-ictogenesis, Antiepileptogenesis, Disease modification, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8n42766g