Elpeleg ON - Search Results

1

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.

Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A. Elpeleg ON, et al. Hum Mutat. 1997;10(3):256-7. doi: 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z. Hum Mutat. 1997. PMID: 9298831 No abstract available.

2

Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria.

Elpeleg ON, Saada AB, Shaag A, Glustein JZ, Ruitenbeek W, Tein I, Halevy J. Elpeleg ON, et al. Muscle Nerve. 1997 Feb;20(2):238-40. doi: 10.1002/(sici)1097-4598(199702)20:2<238::aid-mus18>3.0.co;2-z. Muscle Nerve. 1997. PMID: 9040667 Free article. No abstract available.

3

Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency.

Aptowitzer I, Saada A, Faber J, Kleid D, Elpeleg ON. Aptowitzer I, et al. Among authors: elpeleg on. J Pediatr Gastroenterol Nutr. 1997 May;24(5):599-601. doi: 10.1097/00005176-199705000-00019. J Pediatr Gastroenterol Nutr. 1997. PMID: 9161958 No abstract available.

4

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

5

The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.

Elpeleg ON, Anikster Y, Barash V, Branski D, Shaag A. Elpeleg ON, et al. Am J Hum Genet. 1994 Aug;55(2):287-8. Am J Hum Genet. 1994. PMID: 8037206 Free PMC article.

6

Lipoamide dehydrogenase activity in lymphocytes.

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

7

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. Mol Genet Metab. 2003 May;79(1):1-5. doi: 10.1016/s1096-7192(03)00063-5. Mol Genet Metab. 2003. PMID: 12765840

8

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.

Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O. Edvardson S, et al. Am J Hum Genet. 2007 Oct;81(4):857-62. doi: 10.1086/521227. Epub 2007 Aug 24. Am J Hum Genet. 2007. PMID: 17847012 Free PMC article.

9

C6ORF66 is an assembly factor of mitochondrial complex I.

Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O. Saada A, et al. Am J Hum Genet. 2008 Jan;82(1):32-8. doi: 10.1016/j.ajhg.2007.08.003. Am J Hum Genet. 2008. PMID: 18179882 Free PMC article.

10

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

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