Medical Cannabis for Intractable Epilepsy in Childhood: A Review

Por Ben-Zeev, Bruria
Publicado no Rambam Maimonides Med J (2020)

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

Por Lotan, Meir, Ben-Zeev, Bruria
Publicado no ScientificWorldJournal (2006)

Osteoporosis in Rett Syndrome: A Study on Normal Values

Por Zysman, Lilit, Lotan, Meir, Ben-Zeev, Bruria
Publicado no ScientificWorldJournal (2006)

A forgotten alternative: Bromides for refractory status epilepticus

Por Horesh, Nir, Rubinstein, Marina, Ben-Zeev, Bruria, Paret, Gideon
Publicado no J Pediatr Intensive Care (2013)

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

Por Schaffer, Yael, Ben Zeev, Bruria, Cohen, Roni, Shufer, Avinoam, Geva, Ronny
Publicado no Front Neurol (2017)

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

Por Ganelin-Cohen, Esther, Modan-Moses, Dalit, Hemi, Rina, Kanety, Hannah, Ben-zeev, Bruria, Hampe, Christiane S.
Publicado no Pediatr Diabetes (2015)

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

Por El Waly, Bilal, Mignon-Ravix, Cécile, Cacciagli, Pierre, Buhler, Emmanuelle, ben Zeev, Bruria, Villard, Laurent
Publicado no Eur J Hum Genet (2020)

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

Por Balestra, Dario, Giorgio, Domenico, Bizzotto, Matteo, Fazzari, Maria, Ben Zeev, Bruria, Pinotti, Mirko, Landsberger, Nicoletta, Frasca, Angelisa
Publicado no 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

Por Vecsler, Manuela, Ben Zeev, Bruria, Nudelman, Igor, Anikster, Yair, Simon, Amos J., Amariglio, Ninette, Rechavi, Gideon, Baasov, Timor, Gak, Eva
Publicado em 2011

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

Por Nissenkorn, Andreea, Almog, Yael, Adler, Inbar, Safrin, Mary, Brusel, Marina, Marom, Milit, Bercovich, Shayel, Yakubovich, Daniel, Tzadok, Michal, Ben-Zeev, Bruria, Rubinstein, Moran
Publicado no PLoS One (2019)

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

Por 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
Publicado no 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

Por 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
Publicado em 2013

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

Por 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
Publicado no 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...

Por 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
Publicado em 2004

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

Por 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
Publicado em 2009

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

Por 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
Publicado em 2010

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

Por 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.
Publicado em 2010

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

Por 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
Publicado em 2010

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

Por 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
Publicado no Eur J Hum Genet (2016)

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

Por 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
Publicado em 2012