Berger I - Search Results

1

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O. Berger I, et al. Ann Neurol. 2008 Mar;63(3):405-8. doi: 10.1002/ana.21332. Ann Neurol. 2008. PMID: 18306244

2

Lipoamide dehydrogenase activity in lymphocytes.

Berger I, Elpeleg ON, Saada A. Berger I, et al. Clin Chim Acta. 1996 Dec 30;256(2):197-201. doi: 10.1016/s0009-8981(96)06420-0. Clin Chim Acta. 1996. PMID: 9027430

3

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.

Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg ON. Shaag A, et al. Among authors: berger i. Am J Med Genet. 1999 Jan 15;82(2):177-82. Am J Med Genet. 1999. PMID: 9934985

4

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

Berger I, Shaag A, Anikster Y, Baumgartner ER, Bar-Meir M, Joseph A, Elpeleg ON. Berger I, et al. Mol Genet Metab. 2001 May;73(1):107-10. doi: 10.1006/mgme.2001.3166. Mol Genet Metab. 2001. PMID: 11350191

5

Antenatal presentation of carnitine palmitoyltransferase II deficiency.

Elpeleg ON, Hammerman C, Saada A, Shaag A, Golzand E, Hochner-Celnikier D, Berger I, Nadjari M. Elpeleg ON, et al. Among authors: berger i. Am J Med Genet. 2001 Aug 1;102(2):183-7. doi: 10.1002/ajmg.1457. Am J Med Genet. 2001. PMID: 11477613

6

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O. Edvardson S, et al. Among authors: berger i. Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010. Am J Hum Genet. 2008. PMID: 19068277 Free PMC article.

7

The effect of antiepileptic drugs on mitochondrial activity: a pilot study.

Berger I, Segal I, Shmueli D, Saada A. Berger I, et al. J Child Neurol. 2010 May;25(5):541-5. doi: 10.1177/0883073809352888. J Child Neurol. 2010. PMID: 20413803

8

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

Berger I, Ben-Neriah Z, Dor-Wolman T, Shaag A, Saada A, Zenvirt S, Raas-Rothschild A, Nadjari M, Kaestner KH, Elpeleg O. Berger I, et al. Mol Genet Metab. 2011 Dec;104(4):517-20. doi: 10.1016/j.ymgme.2011.09.020. Epub 2011 Sep 24. Mol Genet Metab. 2011. PMID: 22019070

9

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

Berger I, Dor T, Halvardson J, Edvardson S, Shaag A, Feuk L, Elpeleg O. Berger I, et al. Epilepsia. 2012 Aug;53(8):1436-40. doi: 10.1111/j.1528-1167.2012.03536.x. Epub 2012 Jun 12. Epilepsia. 2012. PMID: 22690745 Free article.

10

A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.

Wilschanski M, Abbasi M, Blanco E, Lindberg I, Yourshaw M, Zangen D, Berger I, Shteyer E, Pappo O, Bar-Oz B, Martín MG, Elpeleg O. Wilschanski M, et al. Among authors: berger i. PLoS One. 2014 Oct 1;9(10):e108878. doi: 10.1371/journal.pone.0108878. eCollection 2014. PLoS One. 2014. PMID: 25272002 Free PMC article.

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