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172 results
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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. Nat Genet. 2001 Nov;29(3):342-4. doi: 10.1038/ng751. Nat Genet. 2001. PMID: 11687801
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. Among authors: saada ab. 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 No abstract available.
Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T).
Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON. Shaag A, et al. Among authors: saada a. Biochem Biophys Res Commun. 1997 Apr 28;233(3):637-9. doi: 10.1006/bbrc.1997.6496. Biochem Biophys Res Commun. 1997. PMID: 9168904
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. Among authors: saada a. 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.
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: saada a. Am J Med Genet. 1999 Jan 15;82(2):177-82. Am J Med Genet. 1999. PMID: 9934985
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: saada a. Am J Med Genet. 2001 Aug 1;102(2):183-7. doi: 10.1002/ajmg.1457. Am J Med Genet. 2001. PMID: 11477613
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: saada a. Nat Genet. 2001 Nov;29(3):337-41. doi: 10.1038/ng746. Nat Genet. 2001. PMID: 11687800
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency.
Bar-Meir M, Elpeleg ON, Saada A. Bar-Meir M, et al. Among authors: saada a. J Pediatr. 2001 Dec;139(6):868-70. doi: 10.1067/mpd.2001.118885. J Pediatr. 2001. PMID: 11743516
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
Elpeleg O, Mandel H, Saada A. Elpeleg O, et al. Among authors: saada a. 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
Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion.
Nevo Y, Soffer D, Kutai M, Zelnik N, Saada A, Jossiphov J, Messer G, Shaag A, Shahar E, Harel S, Elpeleg O. Nevo Y, et al. Among authors: saada a. J Child Neurol. 2002 Jul;17(7):499-504. doi: 10.1177/088307380201700705. J Child Neurol. 2002. PMID: 12269728
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