Shaag A - Search Results

1

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O. Edvardson S, et al. Among authors: shaag a. Am J Hum Genet. 2017 Aug 3;101(2):267-273. doi: 10.1016/j.ajhg.2017.07.002. Am J Hum Genet. 2017. PMID: 28777933 Free PMC article.

2

Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.

Elpeleg ON, Shaag A, Anikster Y, Jakobs C. Elpeleg ON, et al. Among authors: shaag a. J Inherit Metab Dis. 1994;17(6):664-6. doi: 10.1007/BF00712008. J Inherit Metab Dis. 1994. PMID: 7707689

3

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. Among authors: shaag a. Am J Hum Genet. 1994 Aug;55(2):287-8. Am J Hum Genet. 1994. PMID: 8037206 Free PMC article.

4

Glutaric aciduria type I in the Arab and Jewish communities in Israel.

Anikster Y, Shaag A, Joseph A, Mandel H, Ben-Zeev B, Christensen E, Elpeleg ON. Anikster Y, et al. Among authors: shaag a. Am J Hum Genet. 1996 Nov;59(5):1012-8. Am J Hum Genet. 1996. PMID: 8900228 Free PMC article.

5

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. Biochem Biophys Res Commun. 1997 Apr 28;233(3):637-9. doi: 10.1006/bbrc.1997.6496. Biochem Biophys Res Commun. 1997. PMID: 9168904

6

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: shaag 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.

7

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

8

Cone and rod dysfunction in the NARP syndrome.

Chowers I, Lerman-Sagie T, Elpeleg ON, Shaag A, Merin S. Chowers I, et al. Among authors: shaag a. Br J Ophthalmol. 1999 Feb;83(2):190-3. doi: 10.1136/bjo.83.2.190. Br J Ophthalmol. 1999. PMID: 10396197 Free PMC article.

9

The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

Elpeleg ON, Shaag A. Elpeleg ON, et al. Among authors: shaag a. J Inherit Metab Dis. 1999 Jun;22(4):531-4. doi: 10.1023/a:1005512524957. J Inherit Metab Dis. 1999. PMID: 10407784

10

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. Among authors: shaag a. Mol Genet Metab. 2001 May;73(1):107-10. doi: 10.1006/mgme.2001.3166. Mol Genet Metab. 2001. PMID: 11350191

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