Elpeleg O - Search Results

1

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.

Edvardson S, Oz S, Abulhijaa FA, Taher FB, Shaag A, Zenvirt S, Dascal N, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. J Med Genet. 2013 Feb;50(2):118-23. doi: 10.1136/jmedgenet-2012-101223. J Med Genet. 2013. PMID: 23339110

2

A human laterality disorder associated with recessive CCDC11 mutation.

Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O. Perles Z, et al. Among authors: elpeleg o. J Med Genet. 2012 Jun;49(6):386-90. doi: 10.1136/jmedgenet-2011-100457. Epub 2012 May 10. J Med Genet. 2012. PMID: 22577226

3

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.

Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. J Med Genet. 2013 Nov;50(11):733-9. doi: 10.1136/jmedgenet-2013-101753. Epub 2013 Sep 12. J Med Genet. 2013. PMID: 24031089

4

Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.

Ta-Shma A, El-lahham N, Edvardson S, Stepensky P, Nir A, Perles Z, Gavri S, Golender J, Yaakobi-Simhayoff N, Shaag A, Rein AJ, Elpeleg O. Ta-Shma A, et al. Among authors: elpeleg o. J Med Genet. 2014 Apr;51(4):268-70. doi: 10.1136/jmedgenet-2013-102100. Epub 2014 Jan 13. J Med Genet. 2014. PMID: 24421281

5

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

Edvardson S, Kose S, Jalas C, Fattal-Valevski A, Watanabe A, Ogawa Y, Mamada H, Fedick AM, Ben-Shachar S, Treff NR, Shaag A, Bale S, Gärtner J, Imamoto N, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. J Med Genet. 2016 Feb;53(2):132-7. doi: 10.1136/jmedgenet-2015-103232. Epub 2015 Nov 6. J Med Genet. 2016. PMID: 26545878

6

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.

Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O. Mandel H, et al. Among authors: elpeleg o. J Med Genet. 2016 Oct;53(10):690-6. doi: 10.1136/jmedgenet-2016-103922. Epub 2016 May 12. J Med Genet. 2016. PMID: 27208207

7

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.

Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. J Med Genet. 2017 Mar;54(3):196-201. doi: 10.1136/jmedgenet-2016-104202. Epub 2016 Sep 30. J Med Genet. 2017. PMID: 27694521

8

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

Zehavi Y, Mandel H, Zehavi A, Rashid MA, Straussberg R, Jabur B, Shaag A, Elpeleg O, Spiegel R. Zehavi Y, et al. Among authors: elpeleg o. Eur J Med Genet. 2017 Jun;60(6):317-320. doi: 10.1016/j.ejmg.2017.04.001. Epub 2017 Apr 5. Eur J Med Genet. 2017. PMID: 28389307

9

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.

10

C6ORF66 is an assembly factor of mitochondrial complex I.

Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O. Saada A, et al. Among authors: elpeleg o. Am J Hum Genet. 2008 Jan;82(1):32-8. doi: 10.1016/j.ajhg.2007.08.003. Am J Hum Genet. 2008. PMID: 18179882 Free PMC article.

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