Saada A - Search Results

1

Mitochondrial myopathy with atypical subacute presentation.

Cohen O, Steiner I, Argov Z, Ashkenazi A, Diment J, Saada A, River Y. Cohen O, et al. Among authors: saada a. J Neurol Neurosurg Psychiatry. 1998 Mar;64(3):410-1. doi: 10.1136/jnnp.64.3.410. J Neurol Neurosurg Psychiatry. 1998. PMID: 9527168 Free PMC article. No abstract available.

2

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

3

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N. Imagawa E, et al. Among authors: saada a. J Neurol Neurosurg Psychiatry. 2016 Feb;87(2):212-6. doi: 10.1136/jnnp-2014-310084. Epub 2015 May 20. J Neurol Neurosurg Psychiatry. 2016. PMID: 25995486

4

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

5

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

6

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

7

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.

Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, Hershkovitz E, Elpeleg O. Miller C, et al. Among authors: saada a. Ann Neurol. 2004 Nov;56(5):734-8. doi: 10.1002/ana.20282. Ann Neurol. 2004. PMID: 15505824

8

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. Among authors: saada a. Ann Neurol. 2008 Mar;63(3):405-8. doi: 10.1002/ana.21332. Ann Neurol. 2008. PMID: 18306244

9

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. 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

10

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. Among authors: saada a. 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.

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