Publications by authors named "Andreea Nissenkorn"

41Publications

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

Am J Med Genet A 2020 10 17;182(10):2207-2213. Epub 2020 Aug 17.

Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/ajmg.a.61795DOI Listing
October 2020

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

Mol Genet Metab Rep 2020 Dec 15;25:100631. Epub 2020 Aug 15.

Metabolic Disease Unit, Edmond and Lily Safra Children's hospital, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Israel.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451421PMC
December 2020

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

Epilepsy Behav 2019 12 4;101(Pt A):106541. Epub 2019 Nov 4.

Pediatric Neurology Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, Tel Ha Shomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.yebeh.2019.106541DOI Listing
December 2019

Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.

Hum Mutat 2020 02 15;41(2):476-486. Epub 2019 Nov 15.

Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Ramat Gan, Israel.

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http://dx.doi.org/10.1002/humu.23945DOI Listing
February 2020

Functional parameter measurements in children with ataxia telangiectasia.

Dev Med Child Neurol 2020 02 30;62(2):207-213. Epub 2019 Aug 30.

The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/dmcn.14334DOI Listing
February 2020

Secondary enuresis and urological manifestations in children with ataxia telangiectasia.

Eur J Paediatr Neurol 2018 Nov 26;22(6):1118-1123. Epub 2018 Jul 26.

Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Service of Pediatric Urology, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, Tel-Hashomer, Israel; Department of Urology, Chaim Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2018.07.006DOI Listing
November 2018

Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia.

Nutrition 2018 02 24;46:48-52. Epub 2017 Aug 24.

Pediatric Gastroenterology and Nutrition Unit, The Edmond and Lily Safra Children's Faculty of Hospital, Chaim Sheba Medical Center, Tel-Hashomer, Israel; Sackler Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.nut.2017.08.008DOI Listing
February 2018

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

Eur J Paediatr Neurol 2018 Jan 10;22(1):39-45. Epub 2017 Oct 10.

Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2017.09.010DOI Listing
January 2018

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

Eur J Paediatr Neurol 2017 Nov 11;21(6):858-863. Epub 2017 Jul 11.

Pediatric Neurology Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, Tel Ha Shomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2017.07.001DOI Listing
November 2017

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

Pediatr Neurol 2017 03 7;68:40-43. Epub 2016 Dec 7.

Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Tel Ha Shomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; The National Rett Center, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Tel Ha Shomer, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.11.006DOI Listing
March 2017

Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort.

Pediatr Res 2016 06 18;79(6):889-94. Epub 2016 Feb 18.

The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1038/pr.2016.19DOI Listing
June 2016

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.

Eur Respir Rev 2015 Dec;24(138):565-81

Dept of Paediatrics, Division of Respiratory Medicine, Amalia Children's Hospital Radboud, University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1183/16000617.0066-2015DOI Listing
December 2015

Ataxia telangiectasia: why should the ERS care?

Eur Respir J 2015 Dec;46(6):1557-60

Dept of Paediatrics, Division of Respiratory Medicine, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://erj.ersjournals.com/content/erj/46/6/1557.full.pdf
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http://erj.ersjournals.com/lookup/doi/10.1183/13993003.01456
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http://dx.doi.org/10.1183/13993003.01456-2015DOI Listing
December 2015

Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.

J Pediatr Gastroenterol Nutr 2016 Apr;62(4):550-5

*Pediatric Gastroenterology and Nutrition Unit †Department of Pediatrics, and Pediatric Immunology ‡Pediatric Radiology Unit §Pediatric Pulmonology Unit and Ataxia Telangiectasia Center ||Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Tel-Hashomer, Tel Aviv University, Israel.

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http://dx.doi.org/10.1097/MPG.0000000000001036DOI Listing
April 2016

Ataxia telangiectasia.

Handb Clin Neurol 2015 ;132:199-214

Pediatric Neurology Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/B978-0-444-62702-5.00014-7DOI Listing
August 2016

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Eur J Paediatr Neurol 2016 Jan 22;20(1):69-79. Epub 2015 Oct 22.

Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798150017
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http://dx.doi.org/10.1016/j.ejpn.2015.10.003DOI Listing
January 2016

Development of global rating instruments for pediatric patients with ataxia telangiectasia.

Eur J Paediatr Neurol 2016 Jan 25;20(1):140-6. Epub 2015 Sep 25.

Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2015.09.002DOI Listing
January 2016

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

Eur J Paediatr Neurol 2015 Nov 20;19(6):688-93. Epub 2015 Jul 20.

Department of Medicine B Director, Center for Research in Rheumatology, Hadassah Medical Center, Hebrew University, Jerusalem, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798150012
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http://dx.doi.org/10.1016/j.ejpn.2015.07.001DOI Listing
November 2015

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

J Child Neurol 2015 Nov 20;30(13):1749-56. Epub 2015 Apr 20.

Pediatric Neurology Unit, Edmond and Lily Children's Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1177/0883073815579708DOI Listing
November 2015

Epilepsy in Rett syndrome--lessons from the Rett networked database.

Epilepsia 2015 Apr 19;56(4):569-76. Epub 2015 Mar 19.

Pediatric Neurology Unit and Rett National Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/epi.12941DOI Listing
April 2015

Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant.

Pediatr Hematol Oncol 2013 Sep 19;30(6):574-82. Epub 2013 Mar 19.

Department of Pediatric Hematology-Oncology, Safra Children's Hospital, Tel-Hashomer, Ramat-Gan, Israel.

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http://dx.doi.org/10.3109/08880018.2013.777949DOI Listing
September 2013

Dermatologic manifestations of ataxia-telangiectasia syndrome.

J Am Acad Dermatol 2013 Jun 27;68(6):932-6. Epub 2013 Jan 27.

Department of Dermatology, Sheba Medical Center, Ramat Gan, Israel.

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http://dx.doi.org/10.1016/j.jaad.2012.12.950DOI Listing
June 2013

The many faces of Glut1 deficiency syndrome.

J Child Neurol 2014 Mar 22;29(3):349-59. Epub 2013 Jan 22.

1Pediatric Neurology Unit, Edmond and Lily Safra Childern's Hospital, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1177/0883073812471718DOI Listing
March 2014

Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate.

J Child Neurol 2013 Feb 1;28(2):155-60. Epub 2012 May 1.

The National A-T Clinic, Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.

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http://dx.doi.org/10.1177/0883073812441999DOI Listing
February 2013

Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?

J Pediatr 2011 Sep 22;159(3):466-471.e1. Epub 2011 Mar 22.

National A-T Clinic, Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.

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http://dx.doi.org/10.1016/j.jpeds.2011.02.005DOI Listing
September 2011

Epilepsy in Rett syndrome---the experience of a National Rett Center.

Epilepsia 2010 Jul 13;51(7):1252-8. Epub 2010 May 13.

Pediatric Neurology Unit, Safra Children Hospital, Tel Ha Shomer, Israel.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02597.xDOI Listing
July 2010

Reversible airway obstruction in children with ataxia telangiectasia.

Pediatr Pulmonol 2010 Mar;45(3):230-5

Ataxia Telangiectasia National Clinic, Chaim Sheba Medical Center, Tel Hashomer, affiliated with the Sackler Medical School, Tel-Aviv University, Israel.

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http://dx.doi.org/10.1002/ppul.21095DOI Listing
March 2010

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

Epilepsia 2009 Jun 19;50(6):1517-24. Epub 2008 Nov 19.

Pediatric Neurology Unit, Dana Children's Hospital, Tel Aviv Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01891.xDOI Listing
June 2009

Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.

J Child Neurol 2007 Oct;22(10):1214-21

Magnetic Resonance Imaging Unit and Department of Diagnostic Imaging, Safra Pediatric Hospital, Chaim Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1177/0883073807306260DOI Listing
October 2007

5-ASA and lycopene decrease the oxidative stress and inflammation induced by iron in rats with colitis.

J Gastroenterol 2004 Jun;39(6):514-9

The School of Nutritional Sciences, The Hebrew University of Jerusalem, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s00535-003-1336-zDOI Listing
June 2004

Infant botulism in Israel: knowledge enables prompt diagnosis.

Isr Med Assoc J 2004 Apr;6(4):249-50

Pediatric Intensive Care Unit, Wolfson Medical Center, Holon, Israel.

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https://www.ima.org.il/FilesUpload/IMAJ/0/52/26008.pdf
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April 2004

Muscle glycogen depletion and increased oxidative phosphorylation following status epilepticus.

J Child Neurol 2003 Dec;18(12):876-8

Mitochondrial Disease Clinic, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Israel.

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http://dx.doi.org/10.1177/088307380301801208DOI Listing
December 2003