Elpeleg O - Search Results

1

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N. Mandel H, et al. Among authors: elpeleg o. Nat Genet. 2001 Nov;29(3):337-41. doi: 10.1038/ng746. Nat Genet. 2001. PMID: 11687800

2

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.

Elpeleg O, Mandel H, Saada A. Elpeleg O, et al. J Mol Med (Berl). 2002 Jul;80(7):389-96. doi: 10.1007/s00109-002-0343-5. Epub 2002 May 24. J Mol Med (Berl). 2002. PMID: 12110944

3

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.

Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Saada A, et al. Among authors: elpeleg o. Nat Genet. 2001 Nov;29(3):342-4. doi: 10.1038/ng751. Nat Genet. 2001. PMID: 11687801

4

The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies.

Mandel H, Hartman C, Berkowitz D, Elpeleg ON, Manov I, Iancu TC. Mandel H, et al. Among authors: elpeleg on. Hepatology. 2001 Oct;34(4 Pt 1):776-84. doi: 10.1053/jhep.2001.27664. Hepatology. 2001. PMID: 11584375

5

mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency.

Saada A, Shaag A, Elpeleg O. Saada A, et al. Among authors: elpeleg o. Mol Genet Metab. 2003 May;79(1):1-5. doi: 10.1016/s1096-7192(03)00063-5. Mol Genet Metab. 2003. PMID: 12765840

6

Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency.

Saada A, Ben-Shalom E, Zyslin R, Miller C, Mandel H, Elpeleg O. Saada A, et al. Among authors: elpeleg o. Biochem Biophys Res Commun. 2003 Oct 24;310(3):963-6. doi: 10.1016/j.bbrc.2003.09.104. Biochem Biophys Res Commun. 2003. PMID: 14550298

7

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A. Elpeleg O, et al. Am J Hum Genet. 2005 Jun;76(6):1081-6. doi: 10.1086/430843. Epub 2005 Apr 22. Am J Hum Genet. 2005. PMID: 15877282 Free PMC article.

8

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.

Spiegel R, Shaag A, Mandel H, Reich D, Penyakov M, Hujeirat Y, Saada A, Elpeleg O, Shalev SA. Spiegel R, et al. Among authors: elpeleg o. Eur J Hum Genet. 2009 Sep;17(9):1200-3. doi: 10.1038/ejhg.2009.24. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259137 Free PMC article.

9

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.

Saada A, Shaag A, Arnon S, Dolfin T, Miller C, Fuchs-Telem D, Lombes A, Elpeleg O. Saada A, et al. Among authors: elpeleg o. J Med Genet. 2007 Dec;44(12):784-6. doi: 10.1136/jmg.2007.053116. Epub 2007 Sep 14. J Med Genet. 2007. PMID: 17873122 Free PMC article.

10

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: elpeleg on. Am J Med Genet. 1999 Jan 15;82(2):177-82. Am J Med Genet. 1999. PMID: 9934985

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