Zobrazeno 1 - 10
of 217
pro vyhledávání: '"Bruria, Ben-Zeev"'
Autor:
Maayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Michal Stern-Zimmer, Aviva Eliyahu, Annick Raas-Rothschild, Maayan Bivas, Omer Shlomovitz, Odelia Chorin, Rachel Rock, Michal Tzadok, Bruria Ben-Zeev, Gali Heimer, Yoav Bolkier, Noah Gruber, Adi Dagan, Bat El Bar Aluma, Itai M. Pessach, Gideon Rechavi, Ortal Barel, Ben Pode-Shakked, Yair Anikster, Asaf Vivante
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric su
Externí odkaz:
https://doaj.org/article/5ffe107900c941c4ab532f5edb295397
Autor:
Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, Lior Greenbaum
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated
Externí odkaz:
https://doaj.org/article/e733bb6318cd4cbcadc0d78a11b7a3cd
Autor:
Shira Rabinowicz, Tal Schreiber, Gali Heimer, Omer Bar-Yosef, Andreea Nissenkorn, Zohar-Dayan E, Leo Arkush, Nasrin Hamed, Bruria Ben-Zeev, Michal Tzadok
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
IntroductionConcerns regarding felbamate adverse effects restrict its widespread use in children with drug-resistant epilepsy. We aimed to examine the efficacy and safety of felbamate in those children and identify the ones who may benefit most from
Externí odkaz:
https://doaj.org/article/3924f60a73cc4310b315ceb63f919dab
Autor:
Odelia Chorin, Yoel Hirsch, Rachel Rock, Liat Salzer Sheelo, Yael Goldberg, Hanna Mandel, Tova Hershkovitz, Nicole Fleischer, Lior Greenbaum, Uriel Katz, Ortal Barel, Nasrin Hamed, Bruria Ben-Zeev, Shoshana Greenberger, Nadra Nasser Samra, Michal Stern Zimmer, Annick Raas-Rothschild, Ben Pode-Shakked
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It is mainly characterized by global developmental delay, seizures, agenesis of the corpus callosum
Externí odkaz:
https://doaj.org/article/8e8a48b5d2af47e29c4d8e95ea739427
Publikováno v:
NeuroImage: Clinical, Vol 35, Iss , Pp 103085- (2022)
Objective: To assess whether white matter (WM) diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI) derived measures correlate with tuberous sclerosis complex (TSC) disease severity. Cohort and methods: A mult
Externí odkaz:
https://doaj.org/article/a8a9114cd8d04cd19674e0c0b5681b82
Autor:
Irene Unterman, Idit Bloch, Simona Cazacu, Gila Kazimirsky, Bruria Ben-Zeev, Benjamin P Berman, Chaya Brodie, Yuval Tabach
Publikováno v:
eLife, Vol 10 (2021)
Inactivating mutations in the Methyl-CpG Binding Protein 2 (MECP2) gene are the main cause of Rett syndrome (RTT). Despite extensive research into MECP2 function, no treatments for RTT are currently available. Here, we used an evolutionary genomics a
Externí odkaz:
https://doaj.org/article/190ef8124c044965b9e74f2959590c48
Autor:
Yuval E. Landau, Gali Heimer, Ortal Barel, Nechama Shalva, Dina Marek-Yagel, Alvit Veber, Elisheva Javasky, Aya Shilon, Andreea Nissenkorn, Bruria Ben-Zeev, Yair Anikster
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100631- (2020)
Introduction: Peroxisomal D-bifunctional protein (DBP) deficiency is an autosomal recessive disorder historically described as a Zellweger-like syndrome comprising neonatal seizures, retinopathy, hearing loss, dysmorphic features, and other complicat
Externí odkaz:
https://doaj.org/article/0fd48940702143a7b1fbf682d3044bff
Autor:
Ganna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Loreto Rios, Deepa Sirsi, Patrizia Accorsi, Elisabetta Amadori, Guja Astrea, Simona Baldassari, Francesca Beccaria, Antonella Boni, Mauro Budetta, Gaetano Cantalupo, Giuseppe Capovilla, Elisabetta Cesaroni, Valentina Chiesa, Antonietta Coppola, Robertino Dilena, Raffaella Faggioli, Annarita Ferrari, Elena Fiorini, Francesca Madia, Elena Gennaro, Thea Giacomini, Lucio Giordano, Michele Iacomino, Simona Lattanzi, Carla Marini, Maria Margherita Mancardi, Massimo Mastrangelo, Tullio Messana, Carlo Minetti, Lino Nobili, Amanda Papa, Antonia Parmeggiani, Tiziana Pisano, Angelo Russo, Vincenzo Salpietro, Salvatore Savasta, Marcello Scala, Andrea Accogli, Barbara Scelsa, Paolo Scudieri, Alberto Spalice, Nicola Specchio, Marina Trivisano, Michal Tzadok, Massimiliano Valeriani, Maria Stella Vari, Alberto Verrotti, Federico Vigevano, Aglaia Vignoli, Ruud Toonen, Federico Zara, Ingo Helbig, Pasquale Striano
Publikováno v:
Balagura, G, Xian, J, Riva, A, Marchese, F, Zeev, B B, Rios, L, Sirsi, D, Accorsi, P, Amadori, E, Astrea, G, Baldassari, S, Beccaria, F, Boni, A, Budetta, M, Cantalupo, G, Capovilla, G, Cesaroni, E, Chiesa, V, Coppola, A, Dilena, R, Faggioli, R, Ferrari, A, Fiorini, E, Madia, F, Gennaro, E, Giacomini, T, Giordano, L, Iacomino, M, Lattanzi, S, Marini, C, Mancardi, M M, Mastrangelo, M, Messana, T, Minetti, C, Nobili, L, Papa, A, Parmeggiani, A, Pisano, T, Russo, A, Salpietro, V, Savasta, S, Scala, M, Accogli, A, Scelsa, B, Scudieri, P, Spalice, A, Specchio, N, Trivisano, M, Tzadok, M, Valeriani, M, Vari, M S, Verrotti, A, Vigevano, F, Vignoli, A, Toonen, R, Zara, F, Helbig, I & Striano, P 2022, ' Epilepsy Course and Developmental Trajectories in STXBP1-DEE ', Neurology: Genetics, vol. 8, no. 3, e676, pp. 1-15 . https://doi.org/10.1212/NXG.0000000000000676
Neurology: Genetics, 8(3):e676, 1-15. Lippincott Williams and Wilkins
Neurology: Genetics, 8(3):e676, 1-15. Lippincott Williams and Wilkins
Background and ObjectivesClinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. We aim to trace the neurodevelopmental trajectories in individuals with S
Autor:
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F. Berkovic, Martin Broly, Patrick Callaerts, Raymond C. Caylor, Perrine Charles, Nicolas Chatron, Lior Cohen, Antonietta Coppola, Dawn Cordeiro, Claudia Cuccurullo, Ivon Cuscó, null Janette diMonda, Ramon Duran-Romaña, Nina Ekhilevitch, Paula Fernández-Alvarez, Christopher T. Gordon, Bertrand Isidor, Boris Keren, Gaetan Lesca, Jarymke Maljaars, Saadet Mercimek-Andrews, Michelle M. Morrow, Alison M. Muir, Frederic Rousseau, Vincenzo Salpietro, Ingrid E. Scheffer, Rhonda E. Schnur, Joost Schymkowitz, Erika Souche, Jean Steyaert, Elliot S. Stolerman, Jaime Vengoechea, Dorothée Ville, Camerun Washington, Karin Weiss, Rinat Zaid, Lynette G. Sadleir, Heather C. Mefford, Hilde Peeters
Publikováno v:
Genetics in Medicine. 24:2464-2474
KLHL20 is part of a CUL3-RING E3 ubiquitin ligase involved in protein ubiquitination. KLHL20 functions as the substrate adaptor that recognizes substrates and mediates the transfer of ubiquitin to the substrates. Although KLHL20 regulates neurite out
Autor:
Michal, Tzadok, Nasrin, Hamed, Gali, Heimer, Efrat, Zohar-Dayan, Shira, Rabinowicz, Bruria, Ben Zeev
Publikováno v:
Pediatric Neurology. 136:15-19
Several retrospective studies on pediatric epilepsy reported positive effects of cannabidiol-enriched artisanal cannabis oil and pure cannabidiol oil on seizure reduction.This is a retrospective study of children and adolescents with refractory epile