-
1دورية أكاديمية
المؤلفون: Michele Iacomino, Nadia Houerbi, Sara Fortuna, Jennifer Howe, Shan Li, Giovanna Scorrano, Antonella Riva, Kai-Wen Cheng, Mandy Steiman, Iskra Peltekova, Afiqah Yusuf, Simona Baldassari, Serena Tamburro, Paolo Scudieri, Ilaria Musante, Armando Di Ludovico, Sara Guerrisi, Ganna Balagura
المصدر: Frontiers in Molecular Neuroscience, Vol 17 (2024)
مصطلحات موضوعية: PLAA gene, de novo variants, neurodevelopmental disorders, synaptic transmission, SNAREopathies, developmental regression, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2024.1268013/fullTest; https://doaj.org/toc/1662-5099Test
-
2دورية أكاديمية
المؤلفون: Xhuliana Kajana, Sonia Spinelli, Andrea Garbarino, Ganna Balagura, Martina Bartolucci, Andrea Petretto, Marco Pavanello, Giovanni Candiano, Isabella Panfoli, Maurizio Bruschi
المصدر: Biomolecules, Vol 13, Iss 12, p 1730 (2023)
مصطلحات موضوعية: cerebrospinal fluid, extraventricular drainage, extracellular vesicles, exosome, microvesicle, proteomics, Microbiology, QR1-502
وصف الملف: electronic resource
-
3دورية أكاديميةGenotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
المؤلفون: Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
مصطلحات موضوعية: Peroxisome biogenesis disorders, Zellweger spectrum disorder, PEX13, mitochondrial dysfunction, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
-
4دورية أكاديمية
المؤلفون: Nancy Volkers, Samuel Wiebe, Ali Akbar Asadi‐Pooya, Ganna Balagura, Patricia Gómez‐Iglesias, Alla Guekht, Julie Hall, Akio Ikeda, Nathalie Jetté, Nirmeen A. Kishk, Peter Murphy, Emilio Perucca, Juan Carlos Pérez‐Poveda, Emmanuel O. Sanya, Eugen Trinka, Dong Zhou, J. Helen Cross
المصدر: Epilepsia Open, Vol 6, Iss 2, Pp 255-265 (2021)
مصطلحات موضوعية: COVID‐19, epilepsy care, epilepsy research, pandemic, virtual working, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2470-9239Test
-
5دورية أكاديمية
المؤلفون: Antonella Riva, Giulia Nobile, Thea Giacomini, Marzia Ognibene, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Lino Nobili, Pasquale Striano, Maria Margherita Mancardi, Federico Zara, Michele Iacomino
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: epilepsy, Exome sequencing (ES), WOREE syndrome, array-CGH analysis, WWOX gene, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.847549/fullTest; https://doaj.org/toc/2296-2360Test
-
6دورية أكاديمية
المؤلفون: Andrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, Antonella Riva, Marcello Scala, Ganna Balagura, Vincenzo Salpietro, Francesca Madia, Mohamad Maghnie, Federico Zara, Pasquale Striano, Domenico Tortora, Mariasavina Severino, Valeria Capra
المصدر: Frontiers in Pediatrics, Vol 9 (2022)
مصطلحات موضوعية: macrocephaly, brain MRI, megalencephaly, head circumference, genetic diagnosis, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.794069/fullTest; https://doaj.org/toc/2296-2360Test
-
7دورية أكاديمية
المؤلفون: Antonella Riva, Alice Golda, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari, Gianluca Piccolo, Michele Iacomino, Simona Lattanzi, Vincenzo Salpietro, Carlo Minetti, Pasquale Striano
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: anti-seizure medications, epilepsy, genetics, inflammation, precision medicine, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.753753/fullTest; https://doaj.org/toc/1664-2295Test
-
8دورية أكاديمية
المؤلفون: Simon J. Houtman, Hanna C. A. Lammertse, Annemiek A. van Berkel, Ganna Balagura, Elena Gardella, Jennifer R. Ramautar, Chiara Reale, Rikke S. Møller, Federico Zara, Pasquale Striano, Mala Misra-Isrie, Mieke M. van Haelst, Marc Engelen, Titia L. van Zuijen, Huibert D. Mansvelder, Matthijs Verhage, Hilgo Bruining, Klaus Linkenkaer-Hansen
المصدر: Frontiers in Physiology, Vol 12 (2021)
مصطلحات موضوعية: MUNC18-1, SNAREopathies, EEG, excitation-inhibition balance, fE/I, aperiodic exponent, Physiology, QP1-981
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fphys.2021.775172/fullTest; https://doaj.org/toc/1664-042XTest
-
9دورية أكاديمية
المؤلفون: Simona Baldassari, Chiara Cervetto, Sarah Amato, Floriana Fruscione, Ganna Balagura, Simone Pelassa, Ilaria Musante, Michele Iacomino, Monica Traverso, Anna Corradi, Paolo Scudieri, Guido Maura, Manuela Marcoli, Federico Zara
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 18, p 10545 (2022)
مصطلحات موضوعية: stem cells, human-induced pluripotent stem cells (hiPSC), human neurons, diseases modelling, neurotransmitter release, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/23/18/10545Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
-
10دورية أكاديمية
المؤلفون: Michele Iacomino, Simona Baldassari, Yuki Tochigi, Katarzyna Kośla, Francesca Buffelli, Annalaura Torella, Mariasavina Severino, Dario Paladini, Luana Mandarà, Antonella Riva, Marcello Scala, Ganna Balagura, Andrea Accogli, Vincenzo Nigro, Carlo Minetti, Ezio Fulcheri, Federico Zara, Andrzej K. Bednarek, Pasquale Striano, Hiroetsu Suzuki, Vincenzo Salpietro
المصدر: Frontiers in Neuroscience, Vol 14 (2020)
مصطلحات موضوعية: WWOX, WOREE syndrome, neuropathology, animal model, developing brain, cytoskeleton, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fnins.2020.00644/fullTest; https://doaj.org/toc/1662-453XTest