Rachel Straussberg: search on Z-Library

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1

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

Zehavi, Yoav, Mandel, Hanna, Zehavi, Arie, Rashid, Muhammad Abu, Straussberg, Rachel, Jabur, Banan, Shaag, Avraham, Elpeleg, Orly, Spiegel, Ronen

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.19 MB

english, 2017

2

In vitro effect of statins on cytokine production and mitogen response of human peripheral blood mononuclear cells

Hanna Bessler, Hertzel Salman, Michael Bergman, Rachel Straussberg, Meir Djaldetti

Journal:

Clinical Immunology

Year:

2005

Language:

english

File:

PDF, 217 KB

english, 2005

3

BACTEREMIA WITH GROUP A STREPTOCOCCUS ASSOCIATED WITH HERPETIC GINGIVOSTOMATITIS

Amir, Jacob, Nussinovitch, Moshe, Straussberg, Rachel, Harel, Liora

Journal:

Pediatric Infectious Disease Journal

Year:

2001

Language:

english

File:

PDF, 193 KB

english, 2001

4

Kyphoscoliosis peptidase(KY) mutation causes a novel congenital myopathy with core targetoid defects

Straussberg, Rachel, Schottmann, Gudrun, Sadeh, Menachem, Gill, Esther, Seifert, Franziska, Halevy, Ayelet, Qassem, Kaiyal, Rendu, John, van der Ven, Peter F. M., Stenzel, Werner, Schuelke, Markus

Journal:

Acta Neuropathologica

Year:

2016

Language:

english

File:

PDF, 902 KB

english, 2016

5

A Simple Method for Evaluation of Latex Phagocytosis by Rat Peritoneal Macrophages

Djaldetti, Meir, Salman, Hertzel, Bergman, Michael, Straussberg, Rachel, Alexandrova, Svetlana, Bessler, Hanna

Journal:

Acta Haematologica

Year:

1997

Language:

english

File:

PDF, 424 KB

english, 1997

6

Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16

Bernard S. Chang, Xianhua Piao, Adria Bodell, Lina Basel-Vanagaite, Rachel Straussberg, William B. Dobyns, Bassam Qasrawi, Robin M. Winter, A. Micheil Innes, Thomas Voit, P. Ellen Grant, A. James Bark

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 350 KB

english, 2003

7

Late Infantile Neuronal Ceroid Lipofuscinosis: A New Mutation in Arabs

Hadassa Goldberg-Stern, Ayelet Halevi, Dafna Marom, Rachel Straussberg, Aviva Mimouni-Bloch

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 192 KB

english, 2009

8

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel-Vanagaite, Danielle Gleason, R. Sean Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.01 MB

english, 2009

9

Benign paroxysmal torticollis in infancy

Cohen, Herman A., Nussinovitch, Moshe, Ashkenasi, Arie, Straussberg, Rachel, Kauschanksy, Arieh, Frydman, Moshe

Journal:

Pediatric Neurology

Year:

1993

Language:

english

File:

PDF, 279 KB

english, 1993

10

Serum-Sickness-Like Reaction Associated with Minocycline Therapy in Adolescents

Harel, Liora, Arnir, Jacob, Livni, Ella, Straussberg, Rachel, Varsano, Itzhak

Journal:

Annals of Pharmacotherapy

Year:

1996

Language:

english

File:

PDF, 448 KB

english, 1996

11

Tethered cord syndrome presenting as a nonhealing cutaneous ulcer

Natan Brand, Yishai Haimi-Cohen, Arie Weinstock, Rachel Straussberg

Journal:

Child's Nervous System

Year:

1996

Language:

english

File:

PDF, 326 KB

english, 1996

12

Acute Cerebellitis Presenting as Tonsillar Herniation and Hydrocephalus

Vered Shkalim, Jacob Amir, Liora Kornreich, Oded Scheuerman, Rachel Straussberg

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 192 KB

english, 2009

13

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22

Cohen, Rony, Basel-Vanagaite, Lina, Goldberg-Stern, Hadassah, Halevy, Ayelet, Shuper, Avinoam, Feingold-Zadok, Michal, Behar, Doron M., Straussberg, Rachel

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 565 KB

english, 2014

14

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A

Cohen, Rony, Halevy, Ayelet, Aharoni, Sharon, Kraus, Dror, Konen, Osnat, Basel-Vanagaite, Lina, Goldberg–Stern, Hadassa, Straussberg, Rachel

Journal:

Year:

2016

Language:

english

File:

PDF, 841 KB

english, 2016

15

Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2

Hellman-Aharony, Shlomit, Smirin-Yosef, Pola, Halevy, Ayelet, Pasmanik-Chor, Metsada, Yeheskel, Adva, Har-Zahav, Adi, Maya, Idit, Straussberg, Rachel, Dahary, Dvir, Haviv, Ami, Shohat, Mordechai, Base

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 934 KB

english, 2013

16

Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature

Kropach, Nesia, Shkalim-Zemer, Vered, Orenstein, Naama, Scheuerman, Oded, Straussberg, Rachel

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 145 KB

english, 2017

17

Successful treatment of rheumatic chorea with carbamazepine

Liora Harel, Abraham Zecharia, Rachel Straussberg, Benjamin Volovitz, Jacob Amir

Journal:

Pediatric Neurology

Year:

2000

Language:

english

File:

PDF, 53 KB

english, 2000

18

JOURNALS AND MAGAZINES.

Hellman-Aharony, Shlomit, Smirin-Yosef, Pola, Halevy, Ayelet, Pasmanik-Chor, Metsada, Yeheskel, Adva, Har-Zahav, Adi, Maya, Idit, Straussberg, Rachel, Dahary, Dvir, Haviv, Ami, Shohat, Mordechai, Base

Journal:

Year:

1908

Language:

english

File:

PDF, 359 KB

english, 1908

19

Pseudotumor cerebri manifesting as stiff neck and torticollis

Rachel Straussberg, Liora Harel, Jacob Amir

Journal:

Pediatric Neurology

Year:

2002

Language:

english

File:

PDF, 28 KB

english, 2002

20

Absolute neutrophil count in aseptic and bacterial meningitis related to time of lumbar puncture

Rachel Straussberg, Liora Harel, Moshe Nussinovitch, Jacob Amir

Journal:

Pediatric Neurology

Year:

2003

Language:

english

File:

PDF, 116 KB

english, 2003

21

Improvement of atypical acute disseminated encephalomyelitis with steroids and intravenous immunoglobulins

Rachel Straussberg, Tommy Schonfeld, Raphael Weitz, Boaz Karmazyn, Liora Harel

Journal:

Pediatric Neurology

Year:

2001

Language:

english

File:

PDF, 121 KB

english, 2001

22

A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism

Schwarz, Jana Marie, Pedrazza, Leonardo, Stenzel, Werner, Rosa, Jose Luis, Schuelke, Markus, Straussberg, Rachel

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 4.15 MB

2020

23

Extraosseous99mTc-MDP uptake in squamous cell carcinoma of the pleura

Itzhak Garty, Rachel Straussberg, Edith Flatau

Journal:

European Journal of Nuclear Medicine and Molecular Imaging

Year:

1987

Language:

english

File:

PDF, 292 KB

english, 1987

24

Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation

Straussberg, Rachel, Ganelin-Cohen, Esther, Goldberg-Stern, Hadassah, Tzur, Shay, Behar, Doron M., Smirin-Yosef, Pola, Salmon-Divon, Mali, Basel-Vanagaite, Lina

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 337 KB

english, 2015

25

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder

Orenstein, Naama, Goldberg-Stern, Hadassa, Straussberg, Rachel, Bazak, Lily, Hubshman, Monika Weisz, Kropach, Nesia, Gilad, Oded, Scheuerman, Oded, Dory, Yahav, Kraus, Dror, Tzur, Shay, Magal, Nurit,

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 4.56 MB

english, 2017

26

Phagocytic capacity and apoptosis of peripheral blood cells from patients with iron deficiency anemia

Michael Bergman, Hertzel Salman, Rafael Pinchasi, Rachel Straussberg, Meir Djaldetti, Hanna Bessler

Journal:

Biomedicine & Pharmacotherapy

Year:

2005

Language:

english

File:

PDF, 205 KB

english, 2005

27

Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

Straussberg, Rachel, Kornreich, Liora, Harel, Liora, Varsano, Izhak

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 189 KB

english, 1998

28

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome

Lina Basel-Vanagaite, Limor Rainshtein, Dov Inbar, Doron Gothelf, Raoul Hennekam, Rachel Straussberg

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 96 KB

english, 2007

29

Urodynamic Manifestations Associated with Ramsay-Hunt Syndrome

Cohen, Herman A., Abarbanel, Joseph, Ashkenasi, Arie, Frydman, Moshe, Straussberg, Rachel, Varsano, Itzhak

Journal:

Scandinavian Journal of Urology and Nephrology

Year:

1993

Language:

english

File:

PDF, 318 KB

english, 1993

30

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

Tan, Tiong Yang, SedmÃk, JiÅÃ, Fitzgerald, Mark P., Halevy, Rivka Sukenik, Keegan, Liam P., Helbig, Ingo, Basel-Salmon, Lina, Cohen, Lior, Straussberg, Rachel, Chung, Wendy K., Helal, Mayada, Maroo

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 3.30 MB

2020

31

X-linked mental retardation with alacrima and achalasia—Triple A syndrome or a new syndrome?

Daphna Marom, Adi Albin, Charles Schwartz, Adi Har-Zahav, Rachel Straussberg, Frank Bartel, Efrat Birk, Dov Inbar, Lina Basel-Vanagaite

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 144 KB

english, 2011

32

Pro- and anti-inflammatory cytokines in children with febrile convulsions

Rachel Straussberg, Jacob Amir, Liora Harel, Igor Punsky, Hanna Bessler

Journal:

Pediatric Neurology

Year:

2001

Language:

english

File:

PDF, 115 KB

english, 2001

33

3-Methylglutaconic Aciduria

Kesler, Anat, Gadoth, Natan, Straussberg, Rachel

Journal:

Journal of Neuro-Ophthalmology

Year:

1997

File:

PDF, 206 KB

1997

34

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

Straussberg, Rachel, Onoufriadis, Alexandros, Konen, Osnat, Zouabi, Yasmin, Cohen, Lior, Lee, John Y.W., Hsu, Chao-Kai, Simpson, Michael A., McGrath, John A.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 511 KB

english, 2017

35

Reversible cortical atrophy and cognitive decline induced by valproic acid

Rachel Straussberg, Sara Kivity, Raphael Weitz, Liora Harel, Natan Gadoth

Journal:

European Journal of Paediatric Neurology

Year:

1998

Language:

english

File:

PDF, 2.85 MB

english, 1998

36

Peripheral neuropathy in pediatric systemic lupus erythematosus

Liora Harel, Masha Mukamel, Riva Brik, Hannah Blau, Rachel Straussberg

Journal:

Pediatric Neurology

Year:

2002

Language:

english

File:

PDF, 43 KB

english, 2002

37

Carbamazepine-induced Stevens-Johnson Syndrome treated with IV steroids and IVIG

Rachel Straussberg, Liora Harel, Dan Ben-Amitai, Danielle Cohen, Jacob Amir

Journal:

Pediatric Neurology

Year:

2000

Language:

english

File:

PDF, 62 KB

english, 2000

38

An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21

Xianhua Piao, Lina Basel-Vanagaite, Rachel Straussberg, P. Ellen Grant, Elizabeth W. Pugh, Kim Doheny, Betty Doan, Susan E. Hong, Yin Yao Shugart, Christopher A. Walsh

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 723 KB

english, 2002

39

Blue Cone Monochromacy Causes Deterioration in Visual Acuity and Color Vision in a Boy

Weiss, Shirel, Bazak, Lily, Ehrenberg, Miriam, Straussberg, Rachel, Cohen, Nitza Goldenberg

Journal:

Journal of Pediatric Neurology and Medicine

Year:

2016

Language:

english

File:

PDF, 790 KB

english, 2016

40

Familial Benign Neonatal Sleep Myoclonus

Rony Cohen, Avinoam Shuper, Rachel Straussberg

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 115 KB

english, 2007

41

Knee-chest position as a sign of increased intracranial pressure in children

Rachel Straussberg, Jacob Amir, Itzhak Varsano

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 172 KB

english, 1993

42

Congenital intractable diarrhea of infancy in Iraqi Jews

Rachel Straussberg, Rivka Shapiro, Jacob Amir, Anita Yonash, Avinoam Rachmel, William M. Bisset, Itzhak Varsano

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 661 KB

english, 1997

43

Effect of Three Days Starvation on the Phagocytic Activity of Rat Peritoneal Macrophages

Salman, Hertzel, Bergman, Michael, Bessler, Hanna, Alexandrova, Svetlana, Straussberg, Rachel, Zahavi, Izhar, Djaldetti, Meir

Journal:

Acta Haematologica

Year:

1998

Language:

english

File:

PDF, 284 KB

english, 1998

44

Novel homozygous missense mutation inGANassociated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

Aharoni, Sharon, Barwick, Katy E. S., Straussberg, Rachel, Harlalka, Gaurav V., Nevo, Yoram, Chioza, Barry A., McEntagart, Meriel M., Mimouni-Bloch, Aviva, Weedon, Michael, Crosby, Andrew H.

Journal:

BMC Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.04 MB

english, 2016

45

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

Lina Basel-Vanagaite, Liora Muncher, Rachel Straussberg, Metsada Pasmanik-Chor, Michal Yahav, Limor Rainshtein, Christopher A. Walsh, Nurit Magal, Ellen Taub, Valerie Drasinover, Hanna Shalev, Revital

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 759 KB

english, 2006

46

In vitro cytokine production in patients with iron deficiency anemia

Michael Bergman, Hanna Bessler, Hertzel Salman, Dimitri Siomin, Rachel Straussberg, Meir Djaldetti

Journal:

Clinical Immunology

Year:

2004

Language:

english

File:

PDF, 268 KB

english, 2004

47

A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency

Rachel Straussberg, Arnold W Strauss

Journal:

Pediatric Neurology

Year:

2002

Language:

english

File:

PDF, 34 KB

english, 2002

48

Benign abducens nerve palsy of childhood

Cohen, Herman A., Nussinovitch, Moshe, Ashkenazi, Arieh, Straussberg, Rachel, Kaushansky, Arieh

Journal:

Pediatric Neurology

Year:

1993

Language:

english

File:

PDF, 182 KB

english, 1993

49

BACTERIAL TRACHEITIS CAUSED BY PSEUDOMONAS AERUGINOSA

Weinstock, Arie, Amir, Jacob, Straussberg, Rachel, Varsano, Itzhak

Journal:

Pediatric Infectious Disease Journal

Year:

1993

File:

PDF, 246 KB

1993

50

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

Year:

2010

Language:

english

File:

PDF, 327 KB

english, 2010

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