Elpeleg O - Search Results

1

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.

Fichtman B, Zagairy F, Biran N, Barsheshet Y, Chervinsky E, Ben Neriah Z, Shaag A, Assa M, Elpeleg O, Harel A, Spiegel R. Fichtman B, et al. Among authors: elpeleg o. Nat Commun. 2019 Feb 5;10(1):605. doi: 10.1038/s41467-019-08493-7. Nat Commun. 2019. PMID: 30723199 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: 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.

3

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

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

4

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S. Fichtman B, et al. Among authors: elpeleg o. Am J Hum Genet. 2019 Jul 3;105(1):48-64. doi: 10.1016/j.ajhg.2019.05.003. Epub 2019 Jun 6. Am J Hum Genet. 2019. PMID: 31178128 Free PMC article.

5

A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.

Zehavi Y, Saada A, Jabaly-Habib H, Dessau M, Shaag A, Elpeleg O, Spiegel R. Zehavi Y, et al. Among authors: elpeleg o. Metab Brain Dis. 2021 Apr;36(4):581-588. doi: 10.1007/s11011-021-00671-1. Epub 2021 Jan 20. Metab Brain Dis. 2021. PMID: 33471299 Review.

6

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

Berger I, Ben-Neriah Z, Dor-Wolman T, Shaag A, Saada A, Zenvirt S, Raas-Rothschild A, Nadjari M, Kaestner KH, Elpeleg O. Berger I, et al. Among authors: elpeleg o. Mol Genet Metab. 2011 Dec;104(4):517-20. doi: 10.1016/j.ymgme.2011.09.020. Epub 2011 Sep 24. Mol Genet Metab. 2011. PMID: 22019070

7

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.

8

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.

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. Among authors: elpeleg o. 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

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.

Zehavi Y, Mandel H, Eran A, Ravid S, Abu Rashid M, Jansen EEW, Wamelink MMC, Saada A, Shaag A, Elpeleg O, Spiegel R. Zehavi Y, et al. Among authors: elpeleg o. Metab Brain Dis. 2019 Apr;34(2):557-563. doi: 10.1007/s11011-019-0384-x. Epub 2019 Jan 12. Metab Brain Dis. 2019. PMID: 30637540 Review.

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