Zeev, Bruria Ben: search on Z-Library

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1

Treatment with brivaracetam in children – The experience of a pediatric epilepsy center

Nissenkorn, Andreea, Tzadok, Michal, Bar-Yosef, Omer, Ben-Zeev, Bruria

Journal:

Epilepsy & Behavior

Year:

2019

Language:

english

File:

PDF, 289 KB

english, 2019

2

Assessing cognitive functioning in females with Rett syndrome by eye-tracking methodology

Ahonniska-Assa, Jaana, Polack, Orli, Saraf, Einat, Wine, Judy, Silberg, Tamar, Nissenkorn, Andreea, Ben-Zeev, Bruria

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 324 KB

english, 2017

3

MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

Yuval Yaron, Bruria Ben Zeev, Ruth Shomrat, Dani Bercovich, Tova Naiman, Avi Orr-Urtreger

Journal:

Year:

2002

Language:

english

File:

PDF, 92 KB

english, 2002

4

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

El Waly, Bilal, Mignon-Ravix, CÃ©cile, Cacciagli, Pierre, Buhler, Emmanuelle, ben Zeev, Bruria, Villard, Laurent

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 1.97 MB

2020

5

Electroencephalography for children with autistic spectrum disorder: a sedation protocol

Keidan, Ilan, Ben-Menachem, Erez, Tzadok, Michal, Ben-Zeev, Bruria, Berkenstadt, Haim, Cote, Charles

Journal:

Pediatric Anesthesia

Year:

2015

Language:

english

File:

PDF, 188 KB

english, 2015

6

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

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

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 901 KB

2020

7

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population

Tein, Ingrid, Elpeleg, Orly, Ben-Zeev, Bruria, Korman, Stanley H., Lossos, Alexander, Lev, Dorit, Lerman-Sagie, Tally, Vockley, Gerard, Berry, Gerard T., Lamhownah, Anne-Marie, Matern, Dieter, Roe, Ch

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 15 KB

english, 2007

8

Epilepsy in Rett syndrome—The experience of a National Rett Center

Andreea Nissenkorn, Eva Gak, Manuela Vecsler, Haia Reznik, Shay Menascu, Bruria Ben Zeev

Journal:

Year:

2010

Language:

english

File:

PDF, 589 KB

english, 2010

9

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

Ingrid Tein, Orly Elpeleg, Bruria Ben-Zeev, Stanley H. Korman, Alexander Lossos, Dorit Lev, Tally Lerman-Sagie, Esther Leshinsky-Silver, Jerry Vockley, Gerard T. Berry, Anne-Marie Lamhonwah, Dietrich

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 177 KB

english, 2008

10

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein

Ute Spiekerkoetter, Michael J. Bennett, Bruria Ben-Zeev, Arnold W. Strauss, Ingrid Tein

Journal:

Year:

2004

Language:

english

File:

PDF, 94 KB

english, 2004

11

Aminoaciduria resulting from vigabatrin administration in children with epilepsy

Eli Lahat, Bruria Ben-Zeev, Joseph Zlotnik, Ben-Ami Sela

Journal:

Pediatric Neurology

Year:

1999

Language:

english

File:

PDF, 49 KB

english, 1999

12

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

Kodera, Hirofumi, Kato, Mitsuhiro, Nord, Alex S., Walsh, Tom, Lee, Ming, Yamanaka, Gaku, Tohyama, Jun, Nakamura, Kazuyuki, Nakagawa, Eiji, Ikeda, Tae, Ben-Zeev, Bruria, Lev, Dorit, Lerman-Sagie, Tally

Journal:

Year:

2013

Language:

english

File:

PDF, 369 KB

english, 2013

13

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Huemer, Martina, Mulder-Bleile, Regina, Burda, Patricie, Froese, D. Sean, Suormala, Terttu, Zeev, Bruria Ben, Chinnery, Patrick F., Dionisi-Vici, Carlo, Dobbelaere, Dries, Gökcay, Gülden, Demirkol, Mü

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 406 KB

english, 2016

14

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H

Mulkey, Sarah B., Ben-Zeev, Bruria, Nicolai, Joost, Carroll, John L., Grønborg, Sabine, Jiang, Yong-hui, Joshi, Nishtha, Kelly, Megan, Koolen, David. A., Mikati, Mohamad A., Park, Kristen, Pearl, Phil

Journal:

Year:

2017

Language:

english

File:

PDF, 1.85 MB

english, 2017

15

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

Nissenkorn, Andreea, Almog, Yael, Adler, Inbar, Safrin, Mary, Brusel, Marina, Marom, Milit, Bercovich, Shayel, Yakubovich, Daniel, Tzadok, Michal, Ben-Zeev, Bruria, Rubinstein, Moran, Biagini, Giusepp

Journal:

Year:

2019

Language:

english

File:

PDF, 976 KB

english, 2019

16

Clinical Outcomes of Closed-Loop Vagal Nerve Stimulation in Patients with Refractory Epilepsy

Tzadok, Michal, Harush, Amit, Nissenkorn, Andrea, Zauberman, Yaacov, Feldman, Zeev, Ben-zeev, Bruria

Journal:

Year:

2019

Language:

english

File:

PDF, 343 KB

english, 2019

17

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

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

Journal:

International Journal of Molecular Sciences

Year:

2019

Language:

english

File:

PDF, 1.69 MB

english, 2019

18

Dermatologic manifestations of ataxia-telangiectasia syndrome

Greenberger, Shoshana, Berkun, Yackov, Ben-Zeev, Bruria, Levi, Yonit Banet, Barziliai, Aviv, Nissenkorn, Andreea

Journal:

Journal of the American Academy of Dermatology

Year:

2013

Language:

english

File:

PDF, 728 KB

english, 2013

19

Auditory verbal memory and psychosocial symptoms are related in children with idiopathic epilepsy

Schaffer, Yael, Ben Zeev, Bruria, Cohen, Roni, Shuper, Avinoam, Geva, Ronny

Journal:

Epilepsy & Behavior

Year:

2015

Language:

english

File:

PDF, 425 KB

english, 2015

20

Liver Disease in Pediatric Patients With Ataxia Telangiectasia

Weiss, Batia, Krauthammer, Alexander, Soudack, Michalle, Lahad, Avishay, Sarouk, Ifat, Somech, Raz, Heimer, Gali, Ben-Zeev, Bruria, Nissenkorn, Andreea

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2016

Language:

english

File:

PDF, 165 KB

english, 2016

21

MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome

Amnon Zung, Erwin Petek, Bruria Ben-Zeev, Thomas Schwarzbraun, Sagi Josefsberg Ben-Yehoshua

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 279 KB

english, 2011

22

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

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

Journal:

Research in Autism Spectrum Disorders

Year:

2009

Language:

english

File:

PDF, 294 KB

english, 2009

23

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

Ganelin-Cohen, Esther, Modan-Moses, Dalit, Hemi, Rina, Kanety, Hannah, Ben-zeev, Bruria, Hampe, Christiane S.

Journal:

Pediatric Diabetes

Year:

2015

Language:

english

File:

PDF, 160 KB

english, 2015

24

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

Bruria Ben-Zeev, Etgar Levy-Nissenbaum, Hadas Lahat, Yair Anikster, Yael Shinar, Nathan Brand, Varda Gross-Tzur, Daune MacGregor, Roy Sidi, Robert Kleta, Moshe Frydman, Elon Pras

Journal:

Year:

2002

Language:

english

File:

PDF, 96 KB

english, 2002

25

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 Brain Fluids after Hemispherotomy

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 Bogae

Journal:

Clinical & Developmental Immunology

Year:

2004

Language:

english

File:

PDF, 3.42 MB

english, 2004

26

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

Saitsu, Hirotomo, Fukai, Ryoko, Ben-Zeev, Bruria, Sakai, Yasunari, Mimaki, Masakazu, Okamoto, Nobuhiko, Suzuki, Yasuhiro, Monden, Yukifumi, Saito, Hiroshi, Tziperman, Barak, Torio, Michiko, Akamine, S

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.82 MB

english, 2016

27

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

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, R

Journal:

Frontiers in Cellular Neuroscience

Year:

2019

Language:

english

File:

PDF, 1003 KB

english, 2019

28

Rare copy number variants are an important cause of epileptic encephalopathies

Heather C. Mefford, Simone C. Yendle, Cynthia Hsu, Joseph Cook, Eileen Geraghty, Jacinta M. McMahon, Orvar Eeg-Olofsson, Lynette G. Sadleir, Deepak Gill, Bruria Ben-Zeev, Tally Lerman-Sagie, Mark Mack

Journal:

Annals of Neurology

Year:

2011

Language:

english

File:

PDF, 879 KB

english, 2011

29

Transient Oromotor Deficits in Children with Benign Childhood Epilepsy with Central Temporal Spikes

Uri Kramer, Bruria Ben-Zeev, Shaul Harel, Sarah Kivity

Journal:

Year:

2001

Language:

english

File:

PDF, 315 KB

english, 2001

30

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

Danit Oz-Levi, Bruria Ben-Zeev, Elizabeth K. Ruzzo, Yuki Hitomi, Amir Gelman, Kimberly Pelak, Yair Anikster, Haike Reznik-Wolf, Ifat Bar-Joseph, Tsviya Olender, Anna Alkelai, Meira Weiss, Edna Ben-Ash

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 941 KB

english, 2012

31

Unusual Presentation of Familial Glucocorticoid Deficiency with a Novel MRAP Mutation

Modan-Moses, Dalit, Ben-Zeev, Bruria, Hoffmann, Chen, Falik-Zaccai, Tzipora C., Bental, Yoram A., Pinhas-Hamiel, Orit, Anikster, Yair

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

32

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

Myers, Candace T., Stong, Nicholas, Mountier, Emily I., Helbig, Katherine L., Freytag, Saskia, Sullivan, Joseph E., Ben Zeev, Bruria, Nissenkorn, Andreea, Tzadok, Michal, Heimer, Gali, Shinde, Deepali

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 266 KB

english, 2017

33

The phenotype associated with a large deletion on MECP2

Bebbington, Ami, Downs, Jenny, Percy, Alan, Pineda, Mercé, Zeev, Bruria Ben, Bahi-Buisson, Nadia, Leonard, Helen

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 483 KB

english, 2012

34

Rett Syndrome

Ben Zeev Ghidoni, Bruria

Journal:

Child and Adolescent Psychiatric Clinics of North America

Year:

2007

Language:

english

File:

PDF, 311 KB

english, 2007

35

Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation

Katz, Joel S., Frankel, Hyman, Ma, Tracy, Zagzag, David, Liechty, Benjamin, Zeev, Bruria Ben, Tzadok, Michal, Devinsky, Orrin, Weiner, Howard L., Roth, Jonathan

Journal:

Child's Nervous System

Year:

2017

Language:

english

File:

PDF, 1.36 MB

english, 2017

36

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

Lotan, Meir, Ben-Zeev, Bruria

Journal:

The Scientific World JOURNAL

Year:

2006

Language:

english

File:

PDF, 1.21 MB

english, 2006

37

Neurologic Presentation in Children with Ataxia-Telangiectasia: Is Small Head Circumference a Hallmark of the Disease?

Andreea Nissenkorn, Yonit Banet Levi, Daphna Vilozni, Yakov Berkun, Ori Efrati, Moshe Frydman, Jacob Yahav, Dalia Waldman, Raz Somech, Efrat Shenhod, Shay Menascu, Bruria Ben-Zeev

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 471 KB

english, 2011

38

Absence of mutations inATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia

S. Hassin-Baer, Anat Bar-Shira, Shlomit Gilad, Yaron Galanty, Rami Khosravi, Alexander Lossos, Nir Giladi, Rafael Weitz, Bruria Ben-Zeev, Yochanan Goldhammer, Yosef Shiloh

Journal:

Journal of Neurology

Year:

1999

Language:

english

File:

PDF, 37 KB

english, 1999

39

Rett networked database: An integrated clinical and genetic network of rett syndrome databases

Elisa Grillo, Laurent Villard, Angus Clarke, Bruria Ben Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Anna Hryniewiecka-Jaworska, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, E

Journal:

Year:

2012

Language:

english

File:

PDF, 290 KB

english, 2012

40

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

Orly Agamy, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina Fine, Dan Su, Ginat Narkis, Rivka Ofir, Chen Hoffmann, Esther Leshinsky-Silver, Hagit Flusser, Sara Sivan, Dieter Söll, Tally Lerman-Sagie, O

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.26 MB

english, 2010

41

Malignant migrating partial seizures in infancy

Varda Gross-Tsur, Bruria Ben-Zeev, Ruth S. Shalev

Journal:

Pediatric Neurology

Year:

2004

Language:

english

File:

PDF, 350 KB

english, 2004

42

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

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

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 295 KB

english, 2013

43

The Utilization of an Insertable Cardiac Monitor in a Child With Pallid Breath-Holding Spells

Tejman-Yarden, Shai, Ben-Zeev, Bruria, Goldshmit, Yuval, Sarquella-Brugada, Georgia, Cicurel, Assi, Katz, Uriel, Mishali, David, Glikson, Michael

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 1.69 MB

english, 2016

44

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

Barel, Ortal, Christine V. Malicdan, May, Ben-Zeev, Bruria, Kandel, Judith, Pri-Chen, Hadass, Stephen, Joshi, Castro, Inês G., Metz, Jeremy, Atawa, Osama, Moshkovitz, Sharon, Ganelin, Eti, Barshack, I

Journal:

Year:

2017

Language:

english

File:

PDF, 948 KB

english, 2017

45

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

Schaffer, Yael, Ben Zeev, Bruria, Cohen, Roni, Shufer, Avinoam, Geva, Ronny

Journal:

Frontiers in Neurology

Year:

2017

Language:

english

File:

PDF, 376 KB

english, 2017

46

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K., Lu, Yi-Fan, McSweeney, K. Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S., Hitomi, Y

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 4.84 MB

english, 2015

47

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 471 KB

english, 2013

48

Clinical spectrum and medical treatment of children with electrical status epilepticus in sleep (ESES)

Uri Kramer, Liora Sagi, Hadassa Goldberg-Stern, Nathanel Zelnik, Andreea Nissenkorn, Bruria Ben-Zeev

Journal:

Year:

2009

Language:

english

File:

PDF, 87 KB

english, 2009

49

A Potential Life-Threatening Reaction to Glatiramer Acetate in Rett Syndrome

Nissenkorn, Andreea, Kidon, Mona, Ben-Zeev, Bruria

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 244 KB

english, 2017

50

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation

Pode-Shakked, Ben, Heimer, Gali, Vilboux, Thierry, Marek-Yagel, Dina, Ben-Zeev, Bruria, Davids, Mariska, Ferreira, Carlos R., Philosoph, Amit Mary, Veber, Alvit, Pode-Shakked, Naomi, Kenet, Gili, Soud

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 3.11 MB

english, 2019

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