Shalev SA - 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: 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.

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: 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

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: 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.

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: 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.

5

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, Shalev SA. Spiegel R, et al. Among authors: shalev sa. J Inherit Metab Dis. 2007 Apr;30(2):266. doi: 10.1007/s10545-007-0536-8. Epub 2007 Feb 15. J Inherit Metab Dis. 2007. PMID: 17372854

6

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

7

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

8

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.

9

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

Spiegel R, Soiferman D, Shaag A, Shalev S, Elpeleg O, Saada A. Spiegel R, et al. JIMD Rep. 2017;33:55-60. doi: 10.1007/8904_2016_580. Epub 2016 Aug 19. JIMD Rep. 2017. PMID: 27539578 Free PMC article.

10

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.

Spiegel R, Shaag A, Shalev S, Elpeleg O. Spiegel R, et al. Neurogenetics. 2016 Jul;17(3):187-90. doi: 10.1007/s10048-016-0483-3. Epub 2016 Apr 28. Neurogenetics. 2016. PMID: 27122014

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