Zobrazeno 1 - 10
of 338
pro vyhledávání: '"Bruria Ben, Zeev"'
Publikováno v:
Epilepsia Open, Vol 9, Iss 6, Pp 2443-2453 (2024)
Abstract Objective Epilepsy is a chronic neurological disorder related to various etiologies, and the prevalence of active epilepsy is estimated to be between 4 and 10 per 1000 individuals having a significant role in genetic mutations. Next‐Genera
Externí odkaz:
https://doaj.org/article/8b174e20817840b48b32ee1a0169fcb3
Autor:
Agathe Roubertie, Irina Anselm, Bruria Ben‐Zeev, Wuh‐Liang Hwu, Ashutosh Kumar, Berrin Monteleone, Shin‐ichi Muramatsu, Vincenzo Leuzzi, Salvador Ibáñez, Scellig Stone, Phillip L. Pearl
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 1, Pp 53-59 (2024)
Abstract Background Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare, severe neurological disorder caused by pathogenic variants in the dopa decarboxylase (DDC) gene, resulting in a combined deficiency of monoamine neurotransmitters
Externí odkaz:
https://doaj.org/article/deca6b443a2e40fb99fb7e172d08a585
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:
Bruria Ben-Zeev
Publikováno v:
Rambam Maimonides Medical Journal, Vol 11, Iss 1, p e0004 (2020)
In recent years, cannabis has been gaining increasing interest in both the medical research and clinical fields, with regard to its therapeutic effects in various disorders. One of the major fields of interest is its role as an anticonvulsant for ref
Externí odkaz:
https://doaj.org/article/b766de42f2a54db289ba2d8037e5e1e8