Elpeleg O - Search Results

1

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.

2

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I. Spiegel R, et al. Among authors: elpeleg o. J Med Genet. 2011 Mar;48(3):177-82. doi: 10.1136/jmg.2010.084608. Epub 2010 Dec 8. J Med Genet. 2011. PMID: 21147908

3

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O. Spiegel R, et al. Among authors: elpeleg o. Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281368 Free PMC article. Clinical Trial.

4

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V. Spiegel R, et al. Among authors: elpeleg o. Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424123 Free PMC article.

5

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: elpeleg o. 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.

6

Acute infantile liver failure due to mutations in the TRMU gene.

Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O. Zeharia A, et al. Among authors: elpeleg o. Am J Hum Genet. 2009 Sep;85(3):401-7. doi: 10.1016/j.ajhg.2009.08.004. Am J Hum Genet. 2009. PMID: 19732863 Free PMC article.

7

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. Am J Hum Genet. 2010 Jan;86(1):93-7. doi: 10.1016/j.ajhg.2009.12.007. Epub 2009 Dec 31. Am J Hum Genet. 2010. PMID: 20036350 Free PMC article.

8

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O. Kaufmann R, et al. Among authors: elpeleg o. Am J Hum Genet. 2010 Nov 12;87(5):667-70. doi: 10.1016/j.ajhg.2010.09.016. Epub 2010 Oct 14. Am J Hum Genet. 2010. PMID: 20950787 Free PMC article.

9

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O. Spiegel R, et al. Among authors: elpeleg o. Am J Hum Genet. 2012 Mar 9;90(3):518-23. doi: 10.1016/j.ajhg.2012.01.009. Am J Hum Genet. 2012. PMID: 22405087 Free PMC article.

10

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.

Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A. Abdulhag UN, et al. Among authors: elpeleg o. Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781756 Free PMC article.

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