Medical Cannabis for Intractable Epilepsy in Childhood: A Review

door Ben-Zeev, Bruria
Gepubliceerd in Rambam Maimonides Med J (2020)

Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention

door Lotan, Meir, Ben-Zeev, Bruria
Gepubliceerd in ScientificWorldJournal (2006)

Osteoporosis in Rett Syndrome: A Study on Normal Values

door Zysman, Lilit, Lotan, Meir, Ben-Zeev, Bruria
Gepubliceerd in ScientificWorldJournal (2006)

A forgotten alternative: Bromides for refractory status epilepticus

door Horesh, Nir, Rubinstein, Marina, Ben-Zeev, Bruria, Paret, Gideon
Gepubliceerd in J Pediatr Intensive Care (2013)

Memory, Executive Skills, and Psychosocial Phenotype in Children with Pharmacoresponsive Epilepsy: Reactivity to Intervention

door Schaffer, Yael, Ben Zeev, Bruria, Cohen, Roni, Shufer, Avinoam, Geva, Ronny
Gepubliceerd in Front Neurol (2017)

Epilepsy and behavioral changes, type 1 diabetes mellitus and a high titer of glutamic acid decarboxylase antibodies

door Ganelin-Cohen, Esther, Modan-Moses, Dalit, Hemi, Rina, Kanety, Hannah, Ben-zeev, Bruria, Hampe, Christiane S.
Gepubliceerd in Pediatr Diabetes (2015)

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

door El Waly, Bilal, Mignon-Ravix, Cécile, Cacciagli, Pierre, Buhler, Emmanuelle, ben Zeev, Bruria, Villard, Laurent
Gepubliceerd in Eur J Hum Genet (2020)

Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy

door Balestra, Dario, Giorgio, Domenico, Bizzotto, Matteo, Fazzari, Maria, Ben Zeev, Bruria, Pinotti, Mirko, Landsberger, Nicoletta, Frasca, Angelisa
Gepubliceerd in Int J Mol Sci (2019)

Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations

door Vecsler, Manuela, Ben Zeev, Bruria, Nudelman, Igor, Anikster, Yair, Simon, Amos J., Amariglio, Ninette, Rechavi, Gideon, Baasov, Timor, Gak, Eva
Gepubliceerd in 2011

In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations

door Nissenkorn, Andreea, Almog, Yael, Adler, Inbar, Safrin, Mary, Brusel, Marina, Marom, Milit, Bercovich, Shayel, Yakubovich, Daniel, Tzadok, Michal, Ben-Zeev, Bruria, Rubinstein, Moran
Gepubliceerd in PLoS One (2019)

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease

door Landau, Yuval E., Heimer, Gali, Barel, Ortal, Shalva, Nechama, Marek-Yagel, Dina, Veber, Alvit, Javasky, Elisheva, Shilon, Aya, Nissenkorn, Andreea, Ben-Zeev, Bruria, Anikster, Yair
Gepubliceerd in Mol Genet Metab Rep (2020)

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

door Nagamani, Sandesh C S, Erez, Ayelet, Ben-Zeev, Bruria, Frydman, Moshe, Winter, Susan, Zeller, Robert, El-Khechen, Dima, Escobar, Luis, Stankiewicz, Pawel, Patel, Ankita, Wai Cheung, Sau
Gepubliceerd in 2013

Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research

door Sapir, Tamar, Barakat, Tahsin Stefan, Paredes, Mercedes F., Lerman-Sagie, Tally, Aronica, Eleonora, Klonowski, Wlodzimierz, Nguyen, Laurent, Ben Zeev, Bruria, Bahi-Buisson, Nadia, Leventer, Richard, Rachmian, Noa, Reiner, Orly
Gepubliceerd in Front Cell Neurosci (2019)

Autoimmune Epilepsy: Some Epilepsy Patients Harbor Autoantibodies to Glutamate Receptors and dsDNA on both Sides of the Blood-brain Barrier, which may Kill Neurons and Decrease in...

door Ganor, Yonatan, Goldberg-Stern, Hadassa, Amrom, Dina, Lerman-Sagie, Tally, Teichberg, Vivian I., Pelled, Dori, Futerman, Anthony H., Ben Zeev, Bruria, Freilinger, Michael, Verheulpen, Denis, Van Bogaert, Patrick, Levite, Mia
Gepubliceerd in 2004

InterRett, a model for international data collection in a rare genetic disorder

door Louise, Sandra, Fyfe, Sue, Bebbington, Ami, Bahi-Buisson, Nadia, Anderson, Alison, Pineda, Mercé, Percy, Alan, Ben Zeev, Bruria, Wu, Xi Ru, Bao, Xinhua, Mac Leod, Patrick, Armstrong, Judith, Leonard, Helen
Gepubliceerd in 2009

Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

door Kaufmann, Rami, Straussberg, Rachel, Mandel, Hanna, Fattal-Valevski, Aviva, Ben-Zeev, Bruria, Naamati, Adi, Shaag, Avraham, Zenvirt, Shamir, Konen, Osnat, Mimouni-Bloch, Aviva, Dobyns, William B., Edvardson, Simon, Pines, Ophry, Elpeleg, Orly
Gepubliceerd in 2010

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

door Agamy, Orly, Ben Zeev, Bruria, Lev, Dorit, Marcus, Barak, Fine, Dina, Su, Dan, Narkis, Ginat, Ofir, Rivka, Hoffmann, Chen, Leshinsky-Silver, Esther, Flusser, Hagit, Sivan, Sara, Söll, Dieter, Lerman-Sagie, Tally, Birk, Ohad S.
Gepubliceerd in 2010

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

door Reichold, Markus, Zdebik, Anselm A., Lieberer, Evelyn, Rapedius, Markus, Schmidt, Katharina, Bandulik, Sascha, Sterner, Christina, Tegtmeier, Ines, Penton, David, Baukrowitz, Thomas, Hulton, Sally-Anne, Witzgall, Ralph, Ben-Zeev, Bruria, Howie, Alexander J., Kleta, Robert, Bockenhauer, Detlef, Warth, Richard
Gepubliceerd in 2010

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

door Saitsu, Hirotomo, Fukai, Ryoko, Ben-Zeev, Bruria, Sakai, Yasunari, Mimaki, Masakazu, Okamoto, Nobuhiko, Suzuki, Yasuhiro, Monden, Yukifumi, Saito, Hiroshi, Tziperman, Barak, Torio, Michiko, Akamine, Satoshi, Takahashi, Nagahisa, Osaka, Hitoshi, Yamagata, Takanori, Nakamura, Kazuyuki, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi
Gepubliceerd in Eur J Hum Genet (2016)

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

door Oz-Levi, Danit, Ben-Zeev, Bruria, Ruzzo, Elizabeth K., Hitomi, Yuki, Gelman, Amir, Pelak, Kimberly, Anikster, Yair, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Olender, Tsviya, Alkelai, Anna, Weiss, Meira, Ben-Asher, Edna, Ge, Dongliang, Shianna, Kevin V., Elazar, Zvulun, Goldstein, David B., Pras, Elon, Lancet, Doron
Gepubliceerd in 2012