Medical Cannabis for Intractable Epilepsy in Childhood: A Review

Bằng Ben-Zeev, Bruria
Xuất bản năm Rambam Maimonides Med J (2020)

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

Bằng Lotan, Meir, Ben-Zeev, Bruria
Xuất bản năm ScientificWorldJournal (2006)

Osteoporosis in Rett Syndrome: A Study on Normal Values

Bằng Zysman, Lilit, Lotan, Meir, Ben-Zeev, Bruria
Xuất bản năm ScientificWorldJournal (2006)

A forgotten alternative: Bromides for refractory status epilepticus

Bằng Horesh, Nir, Rubinstein, Marina, Ben-Zeev, Bruria, Paret, Gideon
Xuất bản năm J Pediatr Intensive Care (2013)

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

Bằng Schaffer, Yael, Ben Zeev, Bruria, Cohen, Roni, Shufer, Avinoam, Geva, Ronny
Xuất bản năm Front Neurol (2017)

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

Bằng Ganelin-Cohen, Esther, Modan-Moses, Dalit, Hemi, Rina, Kanety, Hannah, Ben-zeev, Bruria, Hampe, Christiane S.
Xuất bản năm Pediatr Diabetes (2015)

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

Bằng El Waly, Bilal, Mignon-Ravix, Cécile, Cacciagli, Pierre, Buhler, Emmanuelle, ben Zeev, Bruria, Villard, Laurent
Xuất bản năm Eur J Hum Genet (2020)

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

Bằng Balestra, Dario, Giorgio, Domenico, Bizzotto, Matteo, Fazzari, Maria, Ben Zeev, Bruria, Pinotti, Mirko, Landsberger, Nicoletta, Frasca, Angelisa
Xuất bản năm 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

Bằng Vecsler, Manuela, Ben Zeev, Bruria, Nudelman, Igor, Anikster, Yair, Simon, Amos J., Amariglio, Ninette, Rechavi, Gideon, Baasov, Timor, Gak, Eva
Được phát hành 2011

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

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

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

Bằng 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
Xuất bản năm 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

Bằng 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
Được phát hành 2013

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

Bằng 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
Xuất bản năm 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...

Bằng 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
Được phát hành 2004

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

Bằng 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
Được phát hành 2009

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

Bằng 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
Được phát hành 2010

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

Bằng 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.
Được phát hành 2010

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

Bằng 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
Được phát hành 2010

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

Bằng 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
Xuất bản năm Eur J Hum Genet (2016)

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

Bằng 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
Được phát hành 2012