Edvardson S - Search Results

1

A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency.

van Diepen L, Buettner FFR, Hoffmann D, Thiesler CT, von Bohlen Und Halbach O, von Bohlen Und Halbach V, Jensen LR, Steinemann D, Edvardson S, Elpeleg O, Schambach A, Gerardy-Schahn R, Kuss AW. van Diepen L, et al. Among authors: edvardson s. Eur J Hum Genet. 2018 Dec;26(12):1773-1783. doi: 10.1038/s41431-018-0220-5. Epub 2018 Aug 8. Eur J Hum Genet. 2018. PMID: 30089820 Free PMC article.

2

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. 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.

3

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: edvardson s. 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.

4

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O. Berger I, et al. Among authors: edvardson s. Ann Neurol. 2008 Mar;63(3):405-8. doi: 10.1002/ana.21332. Ann Neurol. 2008. PMID: 18306244

5

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O. Edvardson S, et al. Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010. Am J Hum Genet. 2008. PMID: 19068277 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: edvardson s. Ann Neurol. 2009 Sep;66(3):419-24. doi: 10.1002/ana.21752. Ann Neurol. 2009. PMID: 19798730

7

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O. Edvardson S, et al. Am J Hum Genet. 2010 Jan;86(1):93-7. doi: 10.1016/j.ajhg.2009.12.007. Epub 2009 Dec 31. Am J Hum Genet. 2010. PMID: 20036350 Free PMC article.

8

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O. Kaufmann R, et al. Among authors: edvardson s. Am J Hum Genet. 2010 Nov 12;87(5):667-70. doi: 10.1016/j.ajhg.2010.09.016. Epub 2010 Oct 14. Am J Hum Genet. 2010. PMID: 20950787 Free PMC article.

9

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O. Edvardson S, et al. Ann Neurol. 2012 Apr;71(4):569-72. doi: 10.1002/ana.23524. Ann Neurol. 2012. PMID: 22522446

10

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.

Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, Jalas C, Lesage S, Brice A, Taraboulos A, Kaestner KH, Greene LE, Elpeleg O. Edvardson S, et al. PLoS One. 2012;7(5):e36458. doi: 10.1371/journal.pone.0036458. Epub 2012 May 1. PLoS One. 2012. PMID: 22563501 Free PMC article.

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