R. Straussberg

N. Orenstein, L. Basel-Salmon, S. Tzur, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

H. Mandel, A. Shaag, O. Elpeleg, 2017, European journal of medical genetics.

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

G. Nürnberg, P. Nürnberg, A. Shuper, 2012, Pediatric neurology.

A simple method for evaluation of latex phagocytosis by rat peritoneal macrophages.

H. Bessler, R. Straussberg, M. Bergman, 1997, Acta haematologica.

DEGS1 variant causes neurological disorder

A. Zvulunov, O. Birk, Y. Barhum, 2019, European Journal of Human Genetics.

Effect of diazepam on the immune response of rats exposed to acute and chronic swim stress.

Abraham Weizman, H. Bessler, R. Straussberg, 2000, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture

L. Leinwand, O. Birk, I. Shelef, 2016, BMC Medical Genetics.

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

I. Scheffer, S. Berkovic, D. Lev, 2009, Epilepsia.

Raynaud's phenomenon as a manifestation of parvovirus B19 infection: case reports and review of parvovirus B19 rheumatic and vasculitic syndromes.

H. Rudich, L. Harel, R. Straussberg, 2000, Clinical Infectious Diseases.

Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine

Y. Nevo, E. Nahum, R. Straussberg, 2022, European Journal of Paediatric Neurology.

Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy

J. Mullikin, W. Baze, J. Peterson, 2017, Brain : a journal of neurology.

Effects of Dexamethasone on IL-1β, IL-6, and TNF-α Production by Mononuclear Cells of Newborns and Adults

L. Sirota, H. Bessler, R. Straussberg, 1999, Neonatology.

Effects of dexamethasone on IL-1beta, IL-6, and TNF-alpha production by mononuclear cells of newborns and adults.

L. Sirota, H. Bessler, R. Straussberg, 1999, Biology of the Neonate.

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.

Yair Anikster, Sharon Aharoni, Bruria Ben-Zeev, 2013, Blood.

Acute motor axonal neuropathy--an atypical presentation.

R. Straussberg, J. Amir, R. Dabby, 2007, Pediatric neurology.

Clinical Experience With Open-Label Topiramate Use in Infants Younger Than 2 Years of Age

B. Ben-Zeev, T. Lerman-Sagie, Itai Berger, 2003, Journal of child neurology.

In vitro cytokine production in patients with iron deficiency anemia.

H. Bessler, R. Straussberg, M. Bergman, 2004, Clinical immunology.

Rheumatic fever in a developed country – is it still relevant? A retrospective, 25 years follow-up

G. Amarilyo, L. Harel, R. Straussberg, 2022, Pediatric Rheumatology.

Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

D. Behar, M. Salmon-Divon, L. Basel‐Vanagaite, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

syndrome e Report of another family with a BRAT1 mutation

D. Behar, M. Salmon-Divon, L. Basel‐Vanagaite, 2015 .

Phototherapy for neonatal hyperbilirubinemia affects cytokine production by peripheral blood mononuclear cells

L. Sirota, H. Bessler, R. Straussberg, 1999, European Journal of Pediatrics.

Vertebral Artery Dissection and Posterior Stroke in a Child

A. Shuper, R. Straussberg, A. Halevy, 2008, Journal of child neurology.

Successful treatment of rheumatic chorea with carbamazepine.

B. Volovitz, L. Harel, R. Straussberg, 2000, Pediatric neurology.

Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations

A. Fattal-Valevski, S. Ben-Shachar, L. Ben‐Sira, 2021, European Journal of Human Genetics.

Effect of oral chemotherapy on the mitochondrial size of mouse intestinal cells

B. Beilin, H. Bessler, R. Straussberg, 1996, Cancer Chemotherapy and Pharmacology.

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

H. Bessler, R. Straussberg, M. Bergman, 2005, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Expanding the phenotypic spectrum of L1CAM‐associated disease

M. Shohat, L. Basel‐Vanagaite, R. Straussberg, 2006, Clinical genetics.

X‐Ray Microanalysis of the Fingernails in Term and Preterm Infants

P. Fishman, R. Straussberg, M. Djaldetti, 1988, Pediatric dermatology.

Seventeen novel mutations that cause profound biotinidase deficiency.

T. Suormala, E. R. Baumgartner, C. Pérez-Cerdá, 2002, Molecular genetics and metabolism.

Effect of human colostrum on interleukin-2 production and natural killer cell activity.

L. Sirota, I. Notti, H. Bessler, 1995, Archives of Disease in Childhood: Fetal and Neonatal Edition.

Bacteremia with group A Streptococcus associated with herpetic gingivostomatitis.

M. Nussinovitch, L. Harel, R. Straussberg, 2001, The Pediatric infectious disease journal.

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

M. Nussinovitch, L. Harel, R. Straussberg, 2003, Pediatric neurology.

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

M. Simpson, J. McGrath, A. Onoufriadis, 2017, American journal of medical genetics. Part A.

Delayed parkinsonism Associated with Hypotension in a Child Undergoing Open‐heart Surgery

R. Straussberg, E. Shahar, N. Brand, 1993, Developmental medicine and child neurology.

A syndrome of transient encephalopathy associated with adenovirus infection.

L. Harel, R. Straussberg, J. Amir, 2001, Pediatrics.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2015, Journal of child neurology.

Treatment of calcinosis in juvenile dermatomyositis with probenecid: the role of phosphorus metabolism in the development of calcifications.

L. Harel, R. Straussberg, J. Amir, 2001, The Journal of rheumatology.

Familial infantile bilateral striatal necrosis: Clinical features and response to biotin treatment

R. Djaldetti, L. Basel, R. Weitz, 2002, Neurology.

Reversible deafness caused by biotinidase deficiency.

S. Korman, L. Harel, R. Straussberg, 2000, Pediatric neurology.

Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency.

O. Elpeleg, R. Shamir, L. Harel, 1997, Pediatrics.

G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

William B. Dobyns, A. James Barkovich, Bernard S. Chang, 2004, Science.

Treatment of Anticonvulsant Hypersensitivity Syndrome with Intravenous Immunoglobulins and Corticosteroids

D. Prais, M. Nussinovitch, L. Harel, 2006, Journal of child neurology.

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

T. Walsh, M. King, Ming K. Lee, 2013, Epilepsia.

Evaluation of a rapid enzyme immunoassay for the detection of herpes simplex virus antigen in children with herpetic gingivostomatitis.

L. Harel, R. Straussberg, J. Amir, 1996, The Pediatric infectious disease journal.

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

I. Scheffer, S. Berkovic, J. Mulley, 2007, Journal of Medical Genetics.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

M. Simpson, S. Blumen, J. Tolar, 2017, American journal of human genetics.

Teratoma of the head and neck in infancy.

R. Straussberg, J. Landman, F. Dulitzky, 1989, Israel journal of medical sciences.

The reliability of midstream urine culture from circumcised male infants.

R. Straussberg, J. Amir, I. Varsano, 1993, American journal of diseases of children.

A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.

F. Glaser, Y. Assaraf, G. Jansen, 2008, Blood.

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.

R. Straussberg, H. Goldberg-Stern, D. Marom, 2009, Pediatric neurology.

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

I. Scheffer, C. Walsh, Y. Shugart, 2004, Brain and Development.

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

C. Walsh, D. Bercovich, T. Olender, 2005, Journal of Medical Genetics.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

M. Daly, I. Scheffer, A. Palotie, 2014, Nature Genetics.

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

D. Behar, A. Shuper, L. Basel‐Vanagaite, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

C. Reid, J. Massano, D. Friedman, 2017, Annals of neurology.

A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2

M. Schuelke, H. Biebermann, H. Krude, 2021, International journal of molecular sciences.

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

C. Walsh, G. Rechavi, A. Simon, 2006, Annals of neurology.

Congenital intractable diarrhea of infancy in Iraqi Jews

R. Straussberg, J. Amir, I. Varsano, 1997, Clinical genetics.

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

M. Weedon, M. McEntagart, A. Crosby, 2016, BMC Medical Genetics.

A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.

M. Koenig, E. Bar-on, L. Basel‐Vanagaite, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc

V. Tarabykin, E. Dere, K. Willig, 2020, Molecular Psychiatry.

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

R. Hennekam, L. Basel‐Vanagaite, R. Straussberg, 2007, American journal of medical genetics. Part A.

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

M. Scott, J. Axelrod, A. Bassuk, 2008, American journal of human genetics.

Pseudotumor cerebri manifesting as stiff neck and torticollis.

L. Harel, R. Straussberg, J. Amir, 2002, Pediatric neurology.

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

Jana Marie Schwarz, M. Schuelke, W. Stenzel, 2020, Molecular genetics and metabolism.

Anesthesia for a child with giant axonal neuropathy

E. Bar-on, R. Straussberg, J. Attias, 2007, Acta anaesthesiologica Scandinavica.

Benign paroxysmal torticollis in infancy.

M. Frydman, M. Nussinovitch, H. Cohen, 1993, Pediatric Neurology.

Neurological Manifestations of Folate Transport Defect: Case Report and Review of the Literature

L. Harel, R. Straussberg, J. Amir, 2007, Journal of Child Neurology.

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

Dvir Dahary, M. Shohat, L. Basel‐Vanagaite, 2013, Pediatric neurology.

Phagocytosis-promoting factor in human colostrum.

L. Sirota, H. Bessler, R. Straussberg, 1995, Biology of the neonate.

Spontaneous decrease of spleen size in a patient with type 1 Gaucher's disease.

H. Bessler, R. Straussberg, A. Cohen, 1998, Haematologica.

Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years

L. Kornreich, R. Straussberg, A. Halevy, 2020, Neuropediatrics.

Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity

A. Alkelai, M. Shohat, L. Basel‐Vanagaite, 2003, Journal of medical genetics.

Benign Neonatal Sleep Myoclonus

I. Scheffer, S. Berkovic, A. Korczyn, 2012, Journal of child neurology.

Benign abducens nerve palsy of childhood.

M. Nussinovitch, H. Cohen, R. Straussberg, 1993, Pediatric neurology.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Tommaso Pippucci, Josemir W. Sander, Edouard Hirsch, 2019, Nature Communications.

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

R. Straussberg, M. Ehrenberg, N. Goldenberg-Cohen, 2016 .

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

William B Dobyns, Hanna Mandel, Bruria Ben-Zeev, 2010, American journal of human genetics.

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

C. Schwartz, F. Bartel, L. Basel‐Vanagaite, 2011, American journal of medical genetics. Part A.

The Adhesion G Protein-Coupled Receptor GPR56/ADGRG1 Is an Inhibitory Receptor on Human NK Cells.

E. Remmerswaal, R. V. van Lier, E. Kostenis, 2016, Cell reports.

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

L. Basel‐Vanagaite, R. Straussberg, A. Halevy, 2016, neurogenetics.

Benign Hereditary Chorea: Clinical, Neuroimaging, and Genetic Findings

P. Heutink, G. Breedveld, M. Mahajnah, 2007, Journal of child neurology.

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

J. Lupski, S. Berkovic, A. Mégarbané, 2005, Neurology.

Acute cerebellitis presenting as tonsillar herniation and hydrocephalus.

L. Kornreich, R. Straussberg, J. Amir, 2009, Pediatric neurology.

Acute Cerebellitis in Children

L. Kornreich, R. Straussberg, Y. Levinsky, 2016, Journal of child neurology.

Improvement of atypical acute disseminated encephalomyelitis with steroids and intravenous immunoglobulins.

R. Weitz, L. Harel, R. Straussberg, 2001, Pediatric neurology.

Presence of the d8/17 B‐cell marker in children with rheumatic fever in Israel

L. Harel, R. Straussberg, J. Amir, 2002, Clinical genetics.

Carbamazepine-induced Stevens-Johnson syndrome treated with IV steroids and IVIG.

D. Ben-Amitai, L. Harel, R. Straussberg, 2000, Pediatric neurology.

Infantile bilateral striatal necrosis maps to chromosome 19q

C. Walsh, M. Shohat, H. Shalev, 2004, Neurology.

Acute Infantile Bilateral Striatal Necrosis: Single-Photon Emission Computed Tomography (SPECT) Imaging and Review

L. Kornreich, R. Straussberg, N. Zevit, 2007, Journal of child neurology.

Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis

H. Bessler, R. Straussberg, M. Djaldetti, 2018, Neuroimmunomodulation.

Familial benign neonatal sleep myoclonus.

A. Shuper, R. Straussberg, Rony Cohen, 2007, Pediatric neurology.

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

Y. Nevo, T. Dor, S. Treves, 2013, PloS one.

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

H. Bessler, L. Harel, R. Straussberg, 2001, Pediatric neurology.

West Nile encephalitis mimicking herpes encephalitis.

R. Straussberg, J. Amir, A. Rimon, 2006, Pediatric neurology.

Colchicine-induced myoneuropathy in childhood

L. Harel, R. Straussberg, J. Amir, 1998, European Journal of Pediatrics.

Successful Intravenous Immunoglobulin Treatment in Pediatric Severe DRESS Syndrome.

D. Prais, D. Landau, R. Straussberg, 2017, The journal of allergy and clinical immunology. In practice.

Extraordinary daytime urinary frequency in children.

M. Frydman, M. Nussinovitch, A. Kauschansky, 1993, The Journal of family practice.

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

M. Schuelke, W. Stenzel, J. Rendu, 2016, Acta Neuropathologica.

Melkersson-Rosenthal syndrome.

M. Frydman, A. Kauschansky, H. Cohen, 1994, Cutis.

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

H. Bessler, R. Straussberg, M. Bergman, 2005, Clinical immunology.

Lymphedema praecox seen as isolated unilateral arm involvement: case report and review of the literature.

M. Nussinovitch, L. Harel, R. Straussberg, 1997, The Journal of pediatrics.

Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome

A. Metzker, R. Straussberg, B. Wolach, 1990, Clinical genetics.

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

L. Harel, R. Straussberg, I. Varsano, 1996, The Annals of Pharmacotherapy.

Tethered cord syndrome presenting as a nonhealing cutaneous ulcer

R. Straussberg, A. Weinstock, Y. Haimi-Cohen, 1996, Child's Nervous System.

Epileptic blindness in children: a localizing sign of various epileptic disorders

E. Shahar, R. Straussberg, P. Hwang, 1996, Clinical Neurology and Neurosurgery.

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

W. Chung, I. Helbig, J. Christodoulou, 2020, American journal of human genetics.

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

P Ellen Grant, Thomas Voit, William B Dobyns, 2003, Annals of neurology.

The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment.

R. Straussberg, Tammy Pilowsky-Peleg, Eliana Haddad-eid, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

C. Walsh, P. Bauer, A. Barkovich, 2021, Genetics in Medicine.

Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia

R. Weitz, L. Basel‐Vanagaite, L. Kornreich, 2005 .

Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia

R. Weitz, L. Basel‐Vanagaite, L. Kornreich, 2005, Journal of child neurology.

Thiamine deficiency in infants: MR findings in the brain.

L. Kornreich, E. Bron-Harlev, E. Nahum, 2005, AJNR. American journal of neuroradiology.

Effect of dexamethasone on IL-2 and IL-3 production by mononuclear cells in neonates and adults.

L. Sirota, H. Bessler, D. Aloni, 1996, Archives of disease in childhood. Fetal and neonatal edition.

Effect ofdexamethasone onIL-2andIL-3 production bymononuclear cells inneonates and adults

R. Straussberg, 1996 .

Radial osteomyelitis as a complication of venous cannulation

L. Harel, R. Straussberg, J. Amir, 2001, Archives of Disease in Childhood.

Effect of lipid emulsion on IL‐2 production by mononuclear cells of newborn infants and adults

L. Sirota, I. Notti, H. Bessler, 1997, Acta paediatrica.

Schilder's disease: non-invasive diagnosis and successful treatment with human immunoglobulins.

R. Straussberg, O. Konen, D. Kraus, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A new autosomal recessive syndrome of pachygyria

N. Gadoth, R. Straussberg, J. Amir, 1996, Clinical genetics.

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.

C. Walsh, P. Grant, K. Doheny, 2002, American journal of human genetics.

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

A. Strauss, R. Straussberg, 2002, Pediatric neurology.

Infant Botulism, Israel, 2007–2021

S. Blum, R. Straussberg, D. Elad, 2023, Emerging infectious diseases.

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

N. Orenstein, R. Straussberg, O. Scheuerman, 2017, Neuropediatrics.

Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?

L. Ben‐Sira, L. Basel‐Vanagaite, R. Straussberg, 2011, American journal of medical genetics. Part A.