Edvardson S - Search Results

1

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing; Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC. Shahrour MA, et al. Among authors: edvardson s. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12. Clin Genet. 2017. PMID: 27573165 Free PMC article.

2

Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.

Edvardson S, Gerhard F, Jalas C, Lachmann J, Golan D, Saada A, Shaag A, Ungermann C, Elpeleg O. Edvardson S, et al. J Med Genet. 2015 Nov;52(11):749-53. doi: 10.1136/jmedgenet-2015-103239. Epub 2015 Aug 25. J Med Genet. 2015. PMID: 26307567

3

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.

Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O. Edvardson S, et al. Am J Med Genet A. 2011 May;155A(5):1170-2. doi: 10.1002/ajmg.a.33972. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465660

4

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

Saada A, Edvardson S, Shaag A, Chung WK, Segel R, Miller C, Jalas C, Elpeleg O. Saada A, et al. Among authors: edvardson s. J Inherit Metab Dis. 2012 Jan;35(1):125-31. doi: 10.1007/s10545-011-9348-y. Epub 2011 May 24. J Inherit Metab Dis. 2012. PMID: 21607760

5

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O. Spiegel R, et al. Among authors: edvardson s. Am J Hum Genet. 2012 Mar 9;90(3):518-23. doi: 10.1016/j.ajhg.2012.01.009. Am J Hum Genet. 2012. PMID: 22405087 Free PMC article.

6

A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.

Nasca A, Di Meo I, Fellig Y, Saada A, Elpeleg O, Ghezzi D, Edvardson S. Nasca A, et al. Among authors: edvardson s. J Hum Genet. 2021 Aug;66(8):835-840. doi: 10.1038/s10038-020-00897-4. Epub 2021 Feb 22. J Hum Genet. 2021. PMID: 33612823

7

Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.

Edvardson S, Tian G, Cullen H, Vanyai H, Ngo L, Bhat S, Aran A, Daana M, Da'amseh N, Abu-Libdeh B, Cowan NJ, Heng JI, Elpeleg O. Edvardson S, et al. Hum Mol Genet. 2016 Nov 1;25(21):4635-4648. doi: 10.1093/hmg/ddw292. Hum Mol Genet. 2016. PMID: 28158450 Free PMC article.

8

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R. Giunta M, et al. Among authors: edvardson s. Hum Mol Genet. 2016 Jul 15;25(14):2985-2996. doi: 10.1093/hmg/ddw149. Epub 2016 May 18. Hum Mol Genet. 2016. PMID: 27193168 Free PMC article.

9

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo EK, Szeinberg A, Maayan C, Mai-Zahav M, Efrati O, Pras E, Reznik-Wolf H, Lancet D, Goldstein DB, Anikster Y, Shalev SA, Elpeleg O, Ben Zeev B. Heimer G, et al. Among authors: edvardson s. Eur J Paediatr Neurol. 2016 Jan;20(1):69-79. doi: 10.1016/j.ejpn.2015.10.003. Epub 2015 Oct 22. Eur J Paediatr Neurol. 2016. PMID: 26542466

10

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.

Harel T, Quek DQY, Wong BH, Cazenave-Gassiot A, Wenk MR, Fan H, Berger I, Shmueli D, Shaag A, Silver DL, Elpeleg O, Edvardson S. Harel T, et al. Among authors: edvardson s. Neurogenetics. 2018 Dec;19(4):227-235. doi: 10.1007/s10048-018-0556-6. Epub 2018 Jul 24. Neurogenetics. 2018. PMID: 30043326

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