Ben Zeev B - Search Results

1

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

Heimer G, van Woerden GM, Barel O, Marek-Yagel D, Kol N, Munting JB, Borghei M, Atawneh OM, Nissenkorn A, Rechavi G, Anikster Y, Elgersma Y, Kushner SA, Ben Zeev B. Heimer G, et al. Among authors: ben zeev b. Hum Mutat. 2020 Feb;41(2):476-486. doi: 10.1002/humu.23945. Epub 2019 Nov 15. Hum Mutat. 2020. PMID: 31692205

2

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

Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, Gross-Tzur V, MacGregor D, Sidi R, Kleta R, Frydman M, Pras E. Ben-Zeev B, et al. Hum Genet. 2002 Aug;111(2):214-8. doi: 10.1007/s00439-002-0770-y. Epub 2002 Jul 16. Hum Genet. 2002. PMID: 12189496

3

MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.

Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A. Yaron Y, et al. Among authors: ben zeev b. Hum Mutat. 2002 Oct;20(4):323-4. doi: 10.1002/humu.9069. Hum Mutat. 2002. PMID: 12325033

4

Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation.

Modan-Moses D, Ben-Zeev B, Hoffmann C, Falik-Zaccai TC, Bental YA, Pinhas-Hamiel O, Anikster Y. Modan-Moses D, et al. Among authors: ben zeev b. J Clin Endocrinol Metab. 2006 Oct;91(10):3713-7. doi: 10.1210/jc.2006-0687. Epub 2006 Jul 25. J Clin Endocrinol Metab. 2006. PMID: 16868047

5

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

Hoffmann C, Ben-Zeev B, Anikster Y, Nissenkorn A, Brand N, Kuint J, Kushnir T. Hoffmann C, et al. Among authors: ben zeev b. J Child Neurol. 2007 Oct;22(10):1214-21. doi: 10.1177/0883073807306260. J Child Neurol. 2007. PMID: 17940249

6

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

Kramer U, Sagi L, Goldberg-Stern H, Zelnik N, Nissenkorn A, Ben-Zeev B. Kramer U, et al. Among authors: ben zeev b. Epilepsia. 2009 Jun;50(6):1517-24. doi: 10.1111/j.1528-1167.2008.01891.x. Epub 2008 Nov 19. Epilepsia. 2009. PMID: 19054417 Free article. Clinical Trial.

7

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

Nissenkorn A, Gak E, Vecsler M, Reznik H, Menascu S, Ben Zeev B. Nissenkorn A, et al. Among authors: ben zeev b. Epilepsia. 2010 Jul;51(7):1252-8. doi: 10.1111/j.1528-1167.2010.02597.x. Epub 2010 May 13. Epilepsia. 2010. PMID: 20491871 Free article.

8

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

Nissenkorn A, Levi YB, Vilozni D, Berkun Y, Efrati O, Frydman M, Yahav J, Waldman D, Somech R, Shenhod E, Menascu S, Ben-Zeev B. Nissenkorn A, et al. Among authors: ben zeev b. J Pediatr. 2011 Sep;159(3):466-471.e1. doi: 10.1016/j.jpeds.2011.02.005. Epub 2011 Mar 22. J Pediatr. 2011. PMID: 21429505

9

Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations.

Vecsler M, Ben Zeev B, Nudelman I, Anikster Y, Simon AJ, Amariglio N, Rechavi G, Baasov T, Gak E. Vecsler M, et al. Among authors: ben zeev b. PLoS One. 2011;6(6):e20733. doi: 10.1371/journal.pone.0020733. Epub 2011 Jun 13. PLoS One. 2011. PMID: 21695138 Free PMC article.

10

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

Nissenkorn A, Hassin-Baer S, Lerman SF, Levi YB, Tzadok M, Ben-Zeev B. Nissenkorn A, et al. Among authors: ben zeev b. J Child Neurol. 2013 Feb;28(2):155-60. doi: 10.1177/0883073812441999. Epub 2012 May 1. J Child Neurol. 2013. PMID: 22550086 Clinical Trial.

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