Elpeleg O - Search Results

1

Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Shahrour MA, Nicolae CM, Edvardson S, Ashhab M, Galvan AM, Constantin D, Abu-Libdeh B, Moldovan GL, Elpeleg O. Shahrour MA, et al. Among authors: elpeleg o. Neurogenetics. 2017 Apr;18(2):119. doi: 10.1007/s10048-017-0511-y. Neurogenetics. 2017. PMID: 28190220 No abstract available.

2

PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Shahrour MA, Nicolae CM, Edvardson S, Ashhab M, Galvan AM, Constantin D, Abu-Libdeh B, Moldovan GL, Elpeleg O. Shahrour MA, et al. Among authors: elpeleg o. Neurogenetics. 2016 Oct;17(4):227-232. doi: 10.1007/s10048-016-0493-1. Epub 2016 Sep 13. Neurogenetics. 2016. PMID: 27624574 Free PMC article.

3

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

Shahrour MA, Ashhab M, Edvardson S, Gur M, Abu-Libdeh B, Elpeleg O. Shahrour MA, et al. Among authors: elpeleg o. Neurogenetics. 2017 Jul;18(3):135-139. doi: 10.1007/s10048-017-0515-7. Epub 2017 May 10. Neurogenetics. 2017. PMID: 28493104

4

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.

Abu-Libdeh B, Ashhab M, Shahrour M, Daana M, Dudin A, Elpeleg O, Edvardson S, Harel T. Abu-Libdeh B, et al. Among authors: elpeleg o. Neurogenetics. 2019 Oct;20(4):209-213. doi: 10.1007/s10048-019-00583-4. Epub 2019 Aug 2. Neurogenetics. 2019. PMID: 31372774

5

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

Damseh N, Danson CM, Al-Ashhab M, Abu-Libdeh B, Gallon M, Sharma K, Yaacov B, Coulthard E, Caldwell MA, Edvardson S, Cullen PJ, Elpeleg O. Damseh N, et al. Among authors: elpeleg o. Neurogenetics. 2015 Jul;16(3):215-221. doi: 10.1007/s10048-015-0446-0. Epub 2015 Apr 17. Neurogenetics. 2015. PMID: 25894286 Free PMC article.

6

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.

Edvardson S, Wang H, Dor T, Atawneh O, Yaacov B, Gartner J, Cinnamon Y, Chen S, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. Neurogenetics. 2016 Jan;17(1):25-30. doi: 10.1007/s10048-015-0464-y. Epub 2015 Nov 17. Neurogenetics. 2016. PMID: 26573021

7

A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.

Edvardson S, Elbaz-Alon Y, Jalas C, Matlock A, Patel K, Labbé K, Shaag A, Jackman JE, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. Neurogenetics. 2016 Oct;17(4):219-225. doi: 10.1007/s10048-016-0487-z. Epub 2016 Jun 15. Neurogenetics. 2016. PMID: 27307223

8

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

Sheffer R, Bennett-Back O, Yaacov B, Edvardson S, Gomori M, Werner M, Fahham D, Anteby I, Frumkin A, Meiner V, Elpeleg O. Sheffer R, et al. Among authors: elpeleg o. Neurogenetics. 2015 Jan;16(1):23-6. doi: 10.1007/s10048-014-0428-7. Epub 2014 Oct 22. Neurogenetics. 2015. PMID: 25338135

9

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. Am J Hum Genet. 2017 Aug 3;101(2):267-273. doi: 10.1016/j.ajhg.2017.07.002. Am J Hum Genet. 2017. PMID: 28777933 Free PMC article.

10

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL. Edvardson S, et al. Among authors: elpeleg o. Am J Hum Genet. 2019 Jan 3;104(1):179-185. doi: 10.1016/j.ajhg.2018.11.018. Epub 2018 Dec 27. Am J Hum Genet. 2019. PMID: 30595371 Free PMC article.

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