Shalev SA - Search Results

1

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: shalev sa. 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.

2

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: shalev sa. 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.

3

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: shalev sa. 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

4

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: shalev sa. 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.

5

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P. Spiegel R, et al. Among authors: shalev sa. J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11. J Med Genet. 2016. PMID: 26561570 Free PMC article.

6

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Spiegel R, Shaag A, Edvardson S, Mandel H, Stepensky P, Shalev SA, Horovitz Y, Pines O, Elpeleg O. Spiegel R, et al. Among authors: shalev sa. Ann Neurol. 2009 Sep;66(3):419-24. doi: 10.1002/ana.21752. Ann Neurol. 2009. PMID: 19798730

7

Expanding the clinical spectrum of SLC29A3 gene defects.

Spiegel R, Cliffe ST, Buckley MF, Crow YJ, Urquhart J, Horovitz Y, Tenenbaum-Rakover Y, Newman WG, Donnai D, Shalev SA. Spiegel R, et al. Among authors: shalev sa. Eur J Med Genet. 2010 Sep-Oct;53(5):309-13. doi: 10.1016/j.ejmg.2010.06.012. Epub 2010 Jul 7. Eur J Med Genet. 2010. PMID: 20619369

8

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.

Shalev SA, Spiegel R, Borochowitz ZU. Shalev SA, et al. Eur J Med Genet. 2012 Apr;55(4):256-64. doi: 10.1016/j.ejmg.2012.02.011. Epub 2012 Mar 3. Eur J Med Genet. 2012. PMID: 22440536

9

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Mandel H, Cohen Katsanelson K, Khayat M, Chervinsky I, Vladovski E, Iancu TC, Indelman M, Horovitz Y, Sprecher E, Shalev SA, Spiegel R. Mandel H, et al. Among authors: shalev sa. Eur J Med Genet. 2014 Nov-Dec;57(11-12):607-12. doi: 10.1016/j.ejmg.2014.09.004. Epub 2014 Sep 28. Eur J Med Genet. 2014. PMID: 25270050

10

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

Sharkia R, Shalev SA, Zalan A, Marom-David M, Watemberg N, Urquhart JE, Daly SB, Bhaskar SS, Williams SG, Newman WG, Spiegel R, Azem A, Elpeleg O, Mahajnah M. Sharkia R, et al. Among authors: shalev sa. Am J Med Genet A. 2017 Apr;173(4):1051-1055. doi: 10.1002/ajmg.a.38140. Am J Med Genet A. 2017. PMID: 28328138

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