Bruria Ben-Zeev : rechercher sur Z-Library

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1

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

Année:

2017

Langue:

english

Fichier:

PDF, 324 KB

english, 2017

2

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

Année:

2019

Langue:

english

Fichier:

PDF, 289 KB

english, 2019

3

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:

Année:

2004

Langue:

english

Fichier:

PDF, 94 KB

english, 2004

4

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

Année:

2008

Langue:

english

Fichier:

PDF, 177 KB

english, 2008

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

Année:

2015

Langue:

english

Fichier:

PDF, 188 KB

english, 2015

6

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

Année:

2007

Langue:

english

Fichier:

PDF, 15 KB

english, 2007

7

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

Année:

2020

Fichier:

PDF, 901 KB

2020

8

Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: Prenatal diagnosis and postnatal outcome in brothers. A new syndrome?

Dr. David Chitayat, Lori Moore, Marc R. Del Bigio, Daune MacGregor, Bruria Ben-Zeev, Kathy Hodgkinson, John Deck, Tammy Stothers, Susan Ritchie, Ants Toi

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 1.06 MB

english, 1994

9

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

Année:

2011

Langue:

english

Fichier:

PDF, 279 KB

english, 2011

10

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

Année:

2011

Langue:

english

Fichier:

PDF, 879 KB

english, 2011

11

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

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

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 315 KB

english, 2001

12

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

Année:

1999

Langue:

english

Fichier:

PDF, 37 KB

english, 1999

13

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:

Année:

2002

Langue:

english

Fichier:

PDF, 96 KB

english, 2002

14

Severe classical congenital muscular dystrophy and merosin expression

Jiri Vajsar, David Chitayat, Laurence E. Becker, Michael Ho, Bruria Ben-Zeev, Venita Jay

Journal:

Clinical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 1.05 MB

english, 1998

15

Sulthiame in childhood epilepsy

Bruria Ben-Zeev, Nathan Watemberg, Pinchas Lerman, Itshak Barash, Nathan Brand, Tally Lerman-Sagie

Journal:

Pediatrics International

Année:

2004

Langue:

english

Fichier:

PDF, 74 KB

english, 2004

16

Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures

Uri Kramer, Esther Kahana, Zamir Shorer, Bruria Ben-Zeev

Journal:

Developmental Medicine & Child Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 71 KB

english, 2000

17

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:

Année:

2009

Langue:

english

Fichier:

PDF, 87 KB

english, 2009

18

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

Rami Kaufmann, Rachel Straussberg, Hanna Mandel, Aviva Fattal-Valevski, Bruria Ben-Zeev, Adi Naamati, Avraham Shaag, Shamir Zenvirt, Osnat Konen, Aviva Mimouni-Bloch, William B. Dobyns, Simon Edvardso

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 327 KB

english, 2010

19

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

Année:

2011

Langue:

english

Fichier:

PDF, 471 KB

english, 2011

20

Rhabdomyolysis due to hereditary torsion dystonia

Gideon Paret, Raz Tirosh, Bruria Ben-Zeev, Amir Vardi, Nathan Brandt, Zohar Barzilay

Journal:

Pediatric Neurology

Année:

1995

Langue:

english

Fichier:

PDF, 181 KB

english, 1995

21

Malignant migrating partial seizures in infancy

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

Journal:

Pediatric Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 350 KB

english, 2004

22

Aminoaciduria resulting from vigabatrin administration in children with epilepsy

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

Journal:

Pediatric Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 49 KB

english, 1999

23

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

Année:

2012

Langue:

english

Fichier:

PDF, 941 KB

english, 2012

24

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

Année:

2013

Langue:

english

Fichier:

PDF, 295 KB

english, 2013

25

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

Année:

2013

Langue:

english

Fichier:

PDF, 728 KB

english, 2013

26

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:

Année:

2013

Langue:

english

Fichier:

PDF, 369 KB

english, 2013

27

Rett Syndrome and Epilepsy: An Update for Child Neurologists

Dolce, Alison, Ben-Zeev, Bruria, Naidu, Sakkubai, Kossoff, Eric H.

Journal:

Pediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 814 KB

english, 2013

28

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Ruzzo, Elizabeth K., Capo-Chichi, José-Mario, Ben-Zeev, Bruria, Chitayat, David, Mao, Hanqian, Pappas, Andrea L., Hitomi, Yuki, Lu, Yi-Fan, Yao, Xiaodi, Hamdan, Fadi F., Pelak, Kimberly, Reznik-Wolf,

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.92 MB

english, 2013

29

Costeff syndrome: clinical features and natural history

Yahalom, Gilad, Anikster, Yair, Huna-Baron, Ruth, Hoffmann, Chen, Blumkin, Lubov, Lev, Dorit, Tsabari, Rakefet, Nitsan, Zeev, Lerman, Sheera F., Ben-Zeev, Bruria, Pode-Shakked, Ben, Sofer, Shira, Schw

Journal:

Journal of Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 943 KB

english, 2014

30

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

Année:

2015

Langue:

english

Fichier:

PDF, 4.84 MB

english, 2015

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

Année:

2006

Langue:

english

Fichier:

PDF, 173 KB

english, 2006

32

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

Année:

2013

Langue:

english

Fichier:

PDF, 471 KB

english, 2013

33

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

Année:

2016

Langue:

english

Fichier:

PDF, 1.82 MB

english, 2016

34

Development of global rating instruments for pediatric patients with ataxia telangiectasia

Nissenkorn, Andreea, Borgohain, Rupam, Micheli, Roberto, Leuzzi, Vincenzo, Hegde, Anaita Udwadia, Mridula, Kandadai Rukmini, Molinaro, Anna, D'Agnano, Daniela, Yareeda, Sireesha, Ben-Zeev, Bruria

Journal:

European Journal of Paediatric Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 472 KB

english, 2016

35

Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency

Ben-Zeev, Bruria, Tabib, Adi, Nissenkorn, Andreea, Garti, Ben-Zion, Gomori, John Moshe, Nass, Dvora, Goldshmidt, Hanoch, Fellig, Yakov, Anikster, Yair, Nevo, Yoram, Elpeleg, Orly, Mevorach, Dror

Journal:

European Journal of Paediatric Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2015

36

Efficacy of corticosteroid therapy in treating epileptic encephalopathies and refractory epilepsies other than West syndrome

Kramer, Uri, Watemberg, Nathan, Zelnik, Nathanel, Shahar, Eli, Lerman-Sagie, Tally, Goldberg-Stern, Hadassah, Ben-Zeev, Bruria

Journal:

Journal of Pediatric Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 57 KB

english, 2015

37

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

Année:

2015

Langue:

english

Fichier:

PDF, 160 KB

english, 2015

38

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

Année:

2016

Langue:

english

Fichier:

PDF, 165 KB

english, 2016

39

KCNQ2 encephalopathy

Millichap, John J., Park, Kristen L., Tsuchida, Tammy, Ben-Zeev, Bruria, Carmant, Lionel, Flamini, Robert, Joshi, Nishtha, Levisohn, Paul M., Marsh, Eric, Nangia, Srishti, Narayanan, Vinodh, Ortiz-Gon

Journal:

Neurology: Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 574 KB

english, 2016

40

Dual array EEG-fMRI: An approach for motion artifact suppression in EEG recorded simultaneously with fMRI

Klovatch-Podlipsky, Ilana, Gazit, Tomer, Fahoum, Firas, Tsirelson, Boris, Kipervasser, Svetlana, Kremer, Uri, Ben-Zeev, Bruria, Goldberg-Stern, Hadassah, Eisenstein, Orna, Harpaz, Yuval, Levy, Ory, Ki

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 4.65 MB

english, 2016

41

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

Année:

2016

Langue:

english

Fichier:

PDF, 1.69 MB

english, 2016

42

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

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

Journal:

Pediatric Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 244 KB

english, 2017

43

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:

Année:

2017

Langue:

english

Fichier:

PDF, 1.85 MB

english, 2017

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:

Année:

2017

Langue:

english

Fichier:

PDF, 948 KB

english, 2017

45

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal infantile encephalopathy

Ben-Zeev, Bruria, Barel, Ortal, Malicdan, May Christine, Atawa, Osama, Cohen Ganelin, Et, Heimer, Gali, Nissenkorn, Andreea, Hoffman, Chen, Kandel, Judith, Schrader, Michael, Eckmann, David M., Anikst

Journal:

European Journal of Paediatric Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 42 KB

english, 2017

46

Influence of epileptic activity during sleep on cognitive performance in benign childhood epilepsy with centrotemporal spikes

Nissenkorn, Andreea, Pappo, Adi, Feldmann, Yael, Heimer, Gali, Bar-Yosef, Omer, Tzadok, Michal, Polack, Orli, Bord, Ayelet, Levav, Miriam, Ben-Zeev, Bruria

Journal:

European Journal of Paediatric Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 692 KB

english, 2017

47

Electroencephalography for Children With Autistic Spectrum Disorder

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

Journal:

Survey of Anesthesiology

Année:

2016

Langue:

english

Fichier:

PDF, 138 KB

english, 2016

48

A novel inborn error of the Coenzyme Q10 biosynthesis pathway: Cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency

Malicdan, May Christine V., Vilboux, Thierry, Ben-Zeev, Bruria, Guo, Jennifer, Eliyahu, Aviva, Pode-Shakked, Ben, Dori, Amir, Kakani, Sravan, Chandrasekharappa, Settara C., Ferreira, Carlos, Shelestov

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 4.90 MB

english, 2017

49

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

Lotan, Meir, Ben-Zeev, Bruria

Journal:

The Scientific World JOURNAL

Année:

2006

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2006

50

Osteoporosis in Rett Syndrome: A Study on Normal Values

Zysman, Lilit, Lotan, Meir, Ben-Zeev, Bruria

Journal:

The Scientific World JOURNAL

Année:

2006

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2006